SPTBN2 (spectrin beta, non-erythrocytic 2)

Gene

• Entrez ID: 6712
• Gene name: Spectrin beta, non-erythrocytic 2
• Gene symbol: SPTBN2
• Synonyms: GTRAP41, SCA5, SCAR14
• Chromosome: 11
• Chromosome location: 11q13.2
• Summary: Spectrins are principle components of a cell`s membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74909073	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs116099040	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918306	A>G	Pathogenic	Coding sequence variant, missense variant
rs139077453	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs141683210	T>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs143155918	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144939155	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs145522851	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs146859515	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs147766428	G>A	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs148065361	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148207416	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150159444	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs373728971	GTGAG>-,GTGAGGTGAG	Pathogenic	Coding sequence variant, frameshift variant
rs397514749	G>A	Pathogenic	Missense variant, coding sequence variant
rs541484241	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs769987150	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs786205617	TT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797046006	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs875989881	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886041245	CCT>-	Pathogenic	Inframe deletion, coding sequence variant
rs1057524761	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795665	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1085307915	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1166383301	G>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs1450514987	T>C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554984881	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554985851	TGAGGTAGAGCAGGTCCTGGAACACCTTCTGCAGCTCCA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1554986337	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554986345	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1590911156	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1590955348	AGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018419	hsa-miR-335-5p	Microarray	18185580
MIRT031841	hsa-miR-16-5p	Proteomics	18668040
MIRT052103	hsa-let-7b-5p	CLASH	23622248
MIRT052103	hsa-let-7b-5p	CLASH	23622248
MIRT046696	hsa-miR-222-3p	CLASH	23622248
MIRT041544	hsa-miR-193b-3p	CLASH	23622248
MIRT038253	hsa-miR-330-5p	CLASH	23622248
MIRT698900	hsa-miR-542-3p	HITS-CLIP	23313552
MIRT698899	hsa-miR-4802-3p	HITS-CLIP	23313552
MIRT698898	hsa-miR-4446-3p	HITS-CLIP	23313552
MIRT698897	hsa-miR-5190	HITS-CLIP	23313552
MIRT698896	hsa-miR-584-3p	HITS-CLIP	23313552
MIRT698895	hsa-miR-3189-3p	HITS-CLIP	23313552
MIRT698894	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT698893	hsa-miR-4645-3p	HITS-CLIP	23313552
MIRT698892	hsa-miR-938	HITS-CLIP	23313552
MIRT698891	hsa-miR-6886-3p	HITS-CLIP	23313552
MIRT698890	hsa-miR-1292-5p	HITS-CLIP	23313552
MIRT698889	hsa-miR-4471	HITS-CLIP	23313552
MIRT698888	hsa-miR-8059	HITS-CLIP	23313552
MIRT508382	hsa-miR-6829-5p	HITS-CLIP	23313552
MIRT698887	hsa-miR-2355-5p	HITS-CLIP	23313552
MIRT698886	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT698885	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT698884	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT639130	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT639129	hsa-miR-4709-5p	HITS-CLIP	23824327
MIRT508391	hsa-miR-4459	PAR-CLIP	21572407
MIRT508390	hsa-miR-665	PAR-CLIP	21572407
MIRT508388	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT508389	hsa-miR-6134	PAR-CLIP	21572407
MIRT508387	hsa-miR-377-5p	PAR-CLIP	21572407
MIRT508386	hsa-miR-6086	PAR-CLIP	21572407
MIRT508385	hsa-miR-3689d	PAR-CLIP	21572407
MIRT508383	hsa-miR-6851-5p	PAR-CLIP	21572407
MIRT508384	hsa-miR-4656	PAR-CLIP	21572407
MIRT508382	hsa-miR-6829-5p	PAR-CLIP	21572407
MIRT508381	hsa-miR-4492	PAR-CLIP	21572407
MIRT508380	hsa-miR-4498	PAR-CLIP	21572407
MIRT508379	hsa-miR-5001-5p	PAR-CLIP	21572407
MIRT508378	hsa-miR-762	PAR-CLIP	21572407
MIRT508377	hsa-miR-4675	PAR-CLIP	21572407
MIRT508376	hsa-miR-4741	PAR-CLIP	21572407
MIRT508375	hsa-miR-6880-5p	PAR-CLIP	21572407
MIRT508374	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT508373	hsa-miR-4684-3p	PAR-CLIP	21572407
MIRT508372	hsa-miR-106a-3p	PAR-CLIP	21572407
MIRT508371	hsa-miR-1587	PAR-CLIP	21572407
MIRT508370	hsa-miR-3620-5p	PAR-CLIP	21572407
MIRT508391	hsa-miR-4459	PAR-CLIP	23446348
MIRT508390	hsa-miR-665	PAR-CLIP	23446348
MIRT508388	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT508389	hsa-miR-6134	PAR-CLIP	23446348
MIRT508387	hsa-miR-377-5p	PAR-CLIP	23446348
MIRT508386	hsa-miR-6086	PAR-CLIP	23446348
MIRT508385	hsa-miR-3689d	PAR-CLIP	23446348
MIRT508383	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT508375	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT508374	hsa-miR-7847-3p	PAR-CLIP	23446348
MIRT508373	hsa-miR-4684-3p	PAR-CLIP	23446348
MIRT508372	hsa-miR-106a-3p	PAR-CLIP	23446348
MIRT514786	hsa-miR-1273e	PAR-CLIP	23446348
MIRT508391	hsa-miR-4459	PAR-CLIP	23446348
MIRT508390	hsa-miR-665	PAR-CLIP	23446348
MIRT508388	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT508389	hsa-miR-6134	PAR-CLIP	23446348
MIRT508387	hsa-miR-377-5p	PAR-CLIP	23446348
MIRT508386	hsa-miR-6086	PAR-CLIP	23446348
MIRT508385	hsa-miR-3689d	PAR-CLIP	23446348
MIRT508383	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT508384	hsa-miR-4656	PAR-CLIP	23446348
MIRT508382	hsa-miR-6829-5p	PAR-CLIP	23446348
MIRT508381	hsa-miR-4492	PAR-CLIP	23446348
MIRT508380	hsa-miR-4498	PAR-CLIP	23446348
MIRT508379	hsa-miR-5001-5p	PAR-CLIP	23446348
MIRT508378	hsa-miR-762	PAR-CLIP	23446348
MIRT508377	hsa-miR-4675	PAR-CLIP	23446348
MIRT508376	hsa-miR-4741	PAR-CLIP	23446348
MIRT508375	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT508374	hsa-miR-7847-3p	PAR-CLIP	23446348
MIRT508373	hsa-miR-4684-3p	PAR-CLIP	23446348
MIRT508372	hsa-miR-106a-3p	PAR-CLIP	23446348
MIRT508371	hsa-miR-1587	PAR-CLIP	23446348
MIRT508370	hsa-miR-3620-5p	PAR-CLIP	23446348
MIRT734211	hsa-miR-1827	Microarray	34179092
MIRT698900	hsa-miR-542-3p	HITS-CLIP	23313552
MIRT698899	hsa-miR-4802-3p	HITS-CLIP	23313552
MIRT698898	hsa-miR-4446-3p	HITS-CLIP	23313552
MIRT698897	hsa-miR-5190	HITS-CLIP	23313552
MIRT698896	hsa-miR-584-3p	HITS-CLIP	23313552
MIRT698895	hsa-miR-3189-3p	HITS-CLIP	23313552
MIRT698894	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT698893	hsa-miR-4645-3p	HITS-CLIP	23313552
MIRT698892	hsa-miR-938	HITS-CLIP	23313552
MIRT698891	hsa-miR-6886-3p	HITS-CLIP	23313552
MIRT698890	hsa-miR-1292-5p	HITS-CLIP	23313552
MIRT698889	hsa-miR-4471	HITS-CLIP	23313552
MIRT698888	hsa-miR-8059	HITS-CLIP	23313552
MIRT508382	hsa-miR-6829-5p	HITS-CLIP	23313552
MIRT698887	hsa-miR-2355-5p	HITS-CLIP	23313552
MIRT698886	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT698885	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT698884	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT639130	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT639129	hsa-miR-4709-5p	HITS-CLIP	23824327
MIRT508391	hsa-miR-4459	PAR-CLIP	21572407
MIRT508390	hsa-miR-665	PAR-CLIP	21572407
MIRT508388	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT508389	hsa-miR-6134	PAR-CLIP	21572407
MIRT508387	hsa-miR-377-5p	PAR-CLIP	21572407
MIRT508386	hsa-miR-6086	PAR-CLIP	21572407
MIRT508385	hsa-miR-3689d	PAR-CLIP	21572407
MIRT508383	hsa-miR-6851-5p	PAR-CLIP	21572407
MIRT508384	hsa-miR-4656	PAR-CLIP	21572407
MIRT508382	hsa-miR-6829-5p	PAR-CLIP	21572407
MIRT508381	hsa-miR-4492	PAR-CLIP	21572407
MIRT508380	hsa-miR-4498	PAR-CLIP	21572407
MIRT508379	hsa-miR-5001-5p	PAR-CLIP	21572407
MIRT508378	hsa-miR-762	PAR-CLIP	21572407
MIRT508377	hsa-miR-4675	PAR-CLIP	21572407
MIRT508376	hsa-miR-4741	PAR-CLIP	21572407
MIRT508375	hsa-miR-6880-5p	PAR-CLIP	21572407
MIRT508374	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT508373	hsa-miR-4684-3p	PAR-CLIP	21572407
MIRT508372	hsa-miR-106a-3p	PAR-CLIP	21572407
MIRT508371	hsa-miR-1587	PAR-CLIP	21572407
MIRT508370	hsa-miR-3620-5p	PAR-CLIP	21572407
MIRT508391	hsa-miR-4459	PAR-CLIP	23446348
MIRT508390	hsa-miR-665	PAR-CLIP	23446348
MIRT508388	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT508389	hsa-miR-6134	PAR-CLIP	23446348
MIRT508387	hsa-miR-377-5p	PAR-CLIP	23446348
MIRT508386	hsa-miR-6086	PAR-CLIP	23446348
MIRT508385	hsa-miR-3689d	PAR-CLIP	23446348
MIRT508383	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT508375	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT508374	hsa-miR-7847-3p	PAR-CLIP	23446348
MIRT508373	hsa-miR-4684-3p	PAR-CLIP	23446348
MIRT508372	hsa-miR-106a-3p	PAR-CLIP	23446348
MIRT514786	hsa-miR-1273e	PAR-CLIP	23446348
MIRT508391	hsa-miR-4459	PAR-CLIP	23446348
MIRT508390	hsa-miR-665	PAR-CLIP	23446348
MIRT508388	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT508389	hsa-miR-6134	PAR-CLIP	23446348
MIRT508387	hsa-miR-377-5p	PAR-CLIP	23446348
MIRT508386	hsa-miR-6086	PAR-CLIP	23446348
MIRT508385	hsa-miR-3689d	PAR-CLIP	23446348
MIRT508383	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT508384	hsa-miR-4656	PAR-CLIP	23446348
MIRT508382	hsa-miR-6829-5p	PAR-CLIP	23446348
MIRT508381	hsa-miR-4492	PAR-CLIP	23446348
MIRT508380	hsa-miR-4498	PAR-CLIP	23446348
MIRT508379	hsa-miR-5001-5p	PAR-CLIP	23446348
MIRT508378	hsa-miR-762	PAR-CLIP	23446348
MIRT508377	hsa-miR-4675	PAR-CLIP	23446348
MIRT508376	hsa-miR-4741	PAR-CLIP	23446348
MIRT508375	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT508374	hsa-miR-7847-3p	PAR-CLIP	23446348
MIRT508373	hsa-miR-4684-3p	PAR-CLIP	23446348
MIRT508372	hsa-miR-106a-3p	PAR-CLIP	23446348
MIRT508371	hsa-miR-1587	PAR-CLIP	23446348
MIRT508370	hsa-miR-3620-5p	PAR-CLIP	23446348
MIRT1386909	hsa-miR-1207-3p	CLIP-seq
MIRT1386910	hsa-miR-122	CLIP-seq
MIRT1386911	hsa-miR-1228	CLIP-seq
MIRT1386912	hsa-miR-1270	CLIP-seq
MIRT1386913	hsa-miR-1273f	CLIP-seq
MIRT1386914	hsa-miR-2278	CLIP-seq
MIRT1386915	hsa-miR-3135b	CLIP-seq
MIRT1386916	hsa-miR-329	CLIP-seq
MIRT1386917	hsa-miR-362-3p	CLIP-seq
MIRT1386918	hsa-miR-4461	CLIP-seq
MIRT1386919	hsa-miR-4534	CLIP-seq
MIRT1386920	hsa-miR-4653-3p	CLIP-seq
MIRT1386921	hsa-miR-4683	CLIP-seq
MIRT1386922	hsa-miR-4786-3p	CLIP-seq
MIRT1386923	hsa-miR-619	CLIP-seq
MIRT1386924	hsa-miR-620	CLIP-seq
MIRT1386925	hsa-miR-646	CLIP-seq
MIRT1386926	hsa-miR-671-5p	CLIP-seq
MIRT1386927	hsa-miR-885-3p	CLIP-seq
MIRT1554127	hsa-miR-1321	CLIP-seq
MIRT1554128	hsa-miR-3150a-3p	CLIP-seq
MIRT1554129	hsa-miR-3175	CLIP-seq
MIRT1554130	hsa-miR-4419a	CLIP-seq
MIRT1554131	hsa-miR-4447	CLIP-seq
MIRT1554132	hsa-miR-4472	CLIP-seq
MIRT1554133	hsa-miR-4510	CLIP-seq
MIRT1554134	hsa-miR-4651	CLIP-seq
MIRT1554135	hsa-miR-4721	CLIP-seq
MIRT1554136	hsa-miR-4728-5p	CLIP-seq
MIRT1554137	hsa-miR-4739	CLIP-seq
MIRT1554138	hsa-miR-4756-5p	CLIP-seq
MIRT1554139	hsa-miR-491-5p	CLIP-seq
MIRT1554140	hsa-miR-608	CLIP-seq
MIRT1554141	hsa-miR-939	CLIP-seq
MIRT2115778	hsa-miR-1292	CLIP-seq
MIRT2115779	hsa-miR-1343	CLIP-seq
MIRT2115780	hsa-miR-1913	CLIP-seq
MIRT2115781	hsa-miR-1915	CLIP-seq
MIRT2115782	hsa-miR-2861	CLIP-seq
MIRT2115783	hsa-miR-298	CLIP-seq
MIRT2115784	hsa-miR-3064-5p	CLIP-seq
MIRT2115785	hsa-miR-3126-3p	CLIP-seq
MIRT2115786	hsa-miR-3128	CLIP-seq
MIRT2115787	hsa-miR-3141	CLIP-seq
MIRT2115788	hsa-miR-3154	CLIP-seq
MIRT2115789	hsa-miR-3184	CLIP-seq
MIRT2115790	hsa-miR-324-3p	CLIP-seq
MIRT2115791	hsa-miR-339-5p	CLIP-seq
MIRT2115792	hsa-miR-361-3p	CLIP-seq
MIRT2115793	hsa-miR-3652	CLIP-seq
MIRT2115794	hsa-miR-3663-5p	CLIP-seq
MIRT2115795	hsa-miR-3918	CLIP-seq
MIRT2115796	hsa-miR-3921	CLIP-seq
MIRT2115797	hsa-miR-3977	CLIP-seq
MIRT2115798	hsa-miR-423-5p	CLIP-seq
MIRT2115799	hsa-miR-4251	CLIP-seq
MIRT2115800	hsa-miR-4313	CLIP-seq
MIRT2115801	hsa-miR-4329	CLIP-seq
MIRT2115802	hsa-miR-4430	CLIP-seq
MIRT2115803	hsa-miR-4505	CLIP-seq
MIRT2115804	hsa-miR-4512	CLIP-seq
MIRT2115805	hsa-miR-4527	CLIP-seq
MIRT2115806	hsa-miR-4649-3p	CLIP-seq
MIRT2115807	hsa-miR-4653-5p	CLIP-seq
MIRT2115808	hsa-miR-4685-5p	CLIP-seq
MIRT2115809	hsa-miR-4720-5p	CLIP-seq
MIRT2115810	hsa-miR-4727-5p	CLIP-seq
MIRT2115811	hsa-miR-4746-5p	CLIP-seq
MIRT2115812	hsa-miR-4799-3p	CLIP-seq
MIRT2115813	hsa-miR-922	CLIP-seq
MIRT2115780	hsa-miR-1913	CLIP-seq
MIRT2115781	hsa-miR-1915	CLIP-seq
MIRT2115782	hsa-miR-2861	CLIP-seq
MIRT2115787	hsa-miR-3141	CLIP-seq
MIRT1554128	hsa-miR-3150a-3p	CLIP-seq
MIRT1554129	hsa-miR-3175	CLIP-seq
MIRT2115790	hsa-miR-324-3p	CLIP-seq
MIRT2115792	hsa-miR-361-3p	CLIP-seq
MIRT2115795	hsa-miR-3918	CLIP-seq
MIRT2115796	hsa-miR-3921	CLIP-seq
MIRT2115797	hsa-miR-3977	CLIP-seq
MIRT2115799	hsa-miR-4251	CLIP-seq
MIRT2115800	hsa-miR-4313	CLIP-seq
MIRT2115801	hsa-miR-4329	CLIP-seq
MIRT1554131	hsa-miR-4447	CLIP-seq
MIRT1554132	hsa-miR-4472	CLIP-seq
MIRT2115804	hsa-miR-4512	CLIP-seq
MIRT1554134	hsa-miR-4651	CLIP-seq
MIRT2115807	hsa-miR-4653-5p	CLIP-seq
MIRT2115808	hsa-miR-4685-5p	CLIP-seq
MIRT2115810	hsa-miR-4727-5p	CLIP-seq
MIRT2338378	hsa-miR-4781-3p	CLIP-seq
MIRT1554139	hsa-miR-491-5p	CLIP-seq
MIRT2338379	hsa-miR-5095	CLIP-seq
MIRT1554140	hsa-miR-608	CLIP-seq
MIRT1386925	hsa-miR-646	CLIP-seq
MIRT1554141	hsa-miR-939	CLIP-seq
MIRT2115783	hsa-miR-298	CLIP-seq
MIRT2460491	hsa-miR-3714	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0003779	Function	Actin binding	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9826670
GO:0005543	Function	Phospholipid binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005829	Component	Cytosol	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007411	Process	Axon guidance	TAS
GO:0007416	Process	Synapse assembly	IEA
GO:0008091	Component	Spectrin	IDA	9826670
GO:0016192	Process	Vesicle-mediated transport	IDA	9826670
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0021692	Process	Cerebellar Purkinje cell layer morphogenesis	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0051693	Process	Actin filament capping	IEA
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098918	Function	Structural constituent of synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099173	Process	Postsynapse organization	IEA
GO:0099189	Component	Postsynaptic spectrin-associated cytoskeleton	IEA

Other IDs

• MIM: 604985
• HGNC: 11276
• e!Ensembl: ENSG00000173898

Protein

• UniProt ID: O15020
• Protein name: Spectrin beta chain, non-erythrocytic 2 (Beta-III spectrin) (Spinocerebellar ataxia 5 protein)
• Protein function: Probably plays an important role in neuronal membrane skeleton.
• PDB: 1WJM, 1WYQ, 6ANU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	57 → 162	Calponin homology (CH) domain	Domain
  PF00307	CH	176 → 282	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	305 → 415	Spectrin repeat	Domain
  PF00435	Spectrin	425 → 528	Spectrin repeat	Domain
  PF00435	Spectrin	531 → 639	Spectrin repeat	Domain
  PF00435	Spectrin	641 → 745	Spectrin repeat	Domain
  PF00435	Spectrin	747 → 850	Spectrin repeat	Domain
  PF00435	Spectrin	852 → 956	Spectrin repeat	Domain
  PF00435	Spectrin	958 → 1063	Spectrin repeat	Domain
  PF00435	Spectrin	1065 → 1170	Spectrin repeat	Domain
  PF00435	Spectrin	1172 → 1276	Spectrin repeat	Domain
  PF00435	Spectrin	1278 → 1381	Spectrin repeat	Domain
  PF00435	Spectrin	1383 → 1486	Spectrin repeat	Domain
  PF00435	Spectrin	1488 → 1586	Spectrin repeat	Domain
  PF00435	Spectrin	1588 → 1692	Spectrin repeat	Domain
  PF00435	Spectrin	1694 → 1799	Spectrin repeat	Domain
  PF00435	Spectrin	1801 → 1905	Spectrin repeat	Domain
  PF00435	Spectrin	1908 → 2011	Spectrin repeat	Domain
  PF00435	Spectrin	2013 → 2097	Spectrin repeat	Domain
  PF15410	PH_9	2220 → 2328	Pleckstrin homology domain	Domain

• Sequence:

  MSSTLSPTDFDSLEIQGQYSDINNRWDLPDSDWDNDSSSARLFERSRIKALADEREAVQK
  KTFTKWVNSHLARVTCRVGDLYSDLRDGRNLLRLLEVLSGEILPKPTKGRMRIHCLENVD
  KALQFLKEQKVHLENMGSHDIVDGNHRLTLGLVWTIILRFQIQDISVETEDNKEKKSAKD
  ALLLWCQMKTAGYPNVNVHNFTTSWRDGLAFNAIVHKHRPDLLDFESLKKCNAHYNLQNA
  FNLAEKELGLTKLLDPEDVNVDQPDEKSIITYVATYYHYFSKMKALAVEGKRIGKVLDHA
  MEAERLVEKYESLASELLQWIEQTIVTLNDRQLANSLSGVQNQLQSFNSYRTVEKPPKFT
  EKGNLEVLLFTIQSKLRANNQKVYTPREGRLISDINKAWERLEKAEHERELALRTELIRQ
  EKLEQLAARFDRKAAMRETWLSENQRLVSQDNFGLELAAVEAAVRKHEAIETDIVAYSGR
  VQAVDAVAAELAAERYHDIKRIAARQHNVARLWDFLRQMVAARRERLLLNLELQKVFQDL
  LYLMDWMEEMKGRLQSQDLGRHLAGVEDLLQLHELVEADIAVQAERVRAVSASALRFCNP
  GKEYRPCDPQLVSERVAKLEQSYEALCELAAARRARLEESRRLWRFLWEVGEAEAWVREQ
  QHLLASADTGRDLTGALRLLNKHTALRGEMSGRLGPLKLTLEQGQQLVAEGHPGASQASA
  RAAELQAQWERLEALAEERAQRLAQAASLYQFQADANDMEAWLVDALRLVSSPELGHDEF
  STQALARQHRALEEEIRSHRPTLDALREQAAALPPTLSRTPEVQSRVPTLERHYEELQAR
  AGERARALEAALALYTMLSEAGACGLWVEEKEQWLNGLALPERLEDLEVVQQRFETLEPE
  MNTLAAQITAVNDIAEQLLKANPPGKDRIVNTQEQLNHRWQQFRRLADGKKAALTSALSI
  QNYHLECTETQAWMREKTKVIESTQGLGNDLAGVLALQRKLAGTERDLEAIAARVGELTR
  EANALAAGHPAQAVAINARLREVQTGWEDLRATMRRREESLGEARRLQDFLRSLDDFQAW
  LGRTQTAVASEEGPATLPEAEALLAQHAALRGEVERAQSEYSRLRALGEEVTRDQADPQC
  LFLRQRLEALGTGWEELGRMWESRQGRLAQAHGFQGFLRDARQAEGVLSSQEYVLSHTEM
  PGTLQAADAAIKKLEDFMSTMDANGERIHGLLEAGRQLVSEGNIHADKIREKADSIERRH
  KKNQDAAQQFLGRLRDNREQQHFLQDCHELKLWIDEKMLTAQDVSYDEARNLHTKWQKHQ
  AFMAELAANKDWLDKVDKEGRELTLEKPELKALVSEKLRDLHRRWDELETTTQAKARSLF
  DANRAELFAQSCCALESWLESLQAQLHSDDYGKDLTSVNILLKKQQMLEWEMAVREKEVE
  AIQAQAKALAQEDQGAGEVERTSRAVEEKFRALCQPMRERCRRLQASREQHQFHRDVEDE
  ILWVTERLPMASSMEHGKDLPSVQLLMKKNQTLQKEIQGHEPRIADLRERQRALGAAAAG
  PELAELQEMWKRLGHELELRGKRLEDALRAQQFYRDAAEAEAWMGEQELHMMGQEKAKDE
  LSAQAEVKKHQVLEQALADYAQTIHQLAASSQDMIDHEHPESTRISIRQAQVDKLYAGLK
  ELAGERRERLQEHLRLCQLRRELDDLEQWIQEREVVAASHELGQDYEHVTMLRDKFREFS
  RDTSTIGQERVDSANALANGLIAGGHAARATVAEWKDSLNEAWADLLELLDTRGQVLAAA
  YELQRFLHGARQALARVQHKQQQLPDGTGRDLNAAEALQRRHCAYEHDIQALSPQVQQVQ
  DDGHRLQKAYAGDKAEEIGRHMQAVAEAWAQLQGSSAARRQLLLDTTDKFRFFKAVRELM
  LWMDEVNLQMDAQERPRDVSSADLVIKNQQGIKAEIEARADRFSSCIDMGKELLARSHYA
  AEEISEKLSQLQARRQETAEKWQEKMDWLQLVLEVLVFGRDAGMAEAWLCSQEPLVRSAE
  LGCTVDEVESLIKRHEAFQKSAVAWEERFCALEKLTALEEREKERKRKREEEERRKQPPA
  PEPTASVPPGDLVGGQTASDTTWDGTQPRPPPSTQAPSVNGVCTDGEPSQPLLGQQRLEH
  SSFPEGPGPGSGDEANGPRGERQTRTRGPAPSAMPQSRSTESAHAATLPPRGPEPSAQEQ
  MEGMLCRKQEMEAFGKKAANRSWQNVYCVLRRGSLGFYKDAKAASAGVPYHGEVPVSLAR
  AQGSVAFDYRKRKHVFKLGLQDGKEYLFQAKDEAEMSSWLRVVNAAIATASSASGEPEEP
  VVPSTTRGMTRAMTMPPVSPVGAEGPVVLRSKDGREREREKRFSFFKKNK

• Sequence length: 2390

Pathways

KEGG:

Cytoskeleton in muscle cells
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases

Reactome:

MHC class II antigen presentation
NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, Spinocerebellar ataxia 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	16429157, 22914369, 29795474, 28636205, 28636205, 23236289
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	28636205
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nystagmus	Nystagmus, End-Position	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	18678470

Unknown
Disease name	Disease term	dbSNP ID	References
Abnormal involuntary movement	Abnormal involuntary movement
Cerebellar atrophy	Cerebellar atrophy
Dysarthria	Dysarthria
Horizontal nystagmus	Horizontal Nystagmus
Impaired cognition	Impaired cognition
Spectrin-associated cerebellar ataxia	Spectrin-associated autosomal recessive cerebellar ataxia
Strabismus	Strabismus