Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6712
Gene name	Spectrin beta, non-erythrocytic 2
Gene symbol	SPTBN2
Synonyms (NCBI Gene)	GTRAP41SCA5SCAR14
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

Show/Hide all (32)

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

261

Show/Hide all (261)

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

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	9826670
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9826670
GO:0005543	Function	Phospholipid binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005938	Component	Cell cortex	IEA
GO:0007416	Process	Synapse assembly	IEA
GO:0008091	Component	Spectrin	IDA	9826670
GO:0008091	Component	Spectrin	IEA
GO:0008091	Component	Spectrin	TAS	9826670
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IDA	9826670
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0021692	Process	Cerebellar Purkinje cell layer morphogenesis	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030534	Process	Adult behavior	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0033010	Component	Paranodal junction	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042995	Component	Cell projection	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0051015	Function	Actin filament binding	IBA
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	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099150	Process	Regulation of postsynaptic specialization assembly	IEA
GO:0099173	Process	Postsynapse organization	IEA
GO:0099186	Function	Structural constituent of postsynapse	IEA
GO:0099189	Component	Postsynaptic spectrin-associated cytoskeleton	IEA

MIM	HGNC	e!Ensembl
604985	11276	ENSG00000173898

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

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.

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

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases		MHC class II antigen presentation NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade COPI-mediated anterograde transport

390

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive spinocerebellar ataxia 14	Pathogenic; Likely pathogenic	rs2135558909, rs1318256630, rs2496277115, rs1195128790, rs374457871, rs146859515, rs373728971, rs1590911156	RCV001647147 RCV001352896 RCV002789995 RCV003340849 RCV004557242 RCV000054553 RCV000054555 RCV002468612
Cerebellar ataxia	Likely pathogenic	rs797046006	RCV000192407
Intellectual disability	Likely pathogenic	rs373270554	RCV001291096
Spinocerebellar ataxia type 5	Likely pathogenic; Pathogenic	rs1940772032, rs1941829953, rs2135319250, rs2135526204, rs1941485201, rs121918306, rs875989881, rs2495860648, rs886041245, rs1554985851, rs1554986345, rs1554986337, rs1590955348, rs541484241, rs1941669517	RCV001330335 RCV001330338 RCV001807913 RCV002221400 RCV000005592 RCV000005593 RCV000211499 RCV003388213 RCV005411396 RCV000005591 RCV001027673 RCV000677650 RCV000991208 RCV000995650 RCV001193661

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs1371679359	RCV005908944
Autosomal dominant cerebellar ataxia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs506028, rs34775878, rs148207416, rs114241603, rs886048544, rs572522164, rs376249009, rs886048546, rs569905004, rs200370228, rs759505522, rs35532855, rs115062978, rs199675740, rs148878156 View all (64 more)	RCV000390858 RCV000321710 RCV000284039 RCV000381666 RCV000367729 RCV000332799 RCV000337478 RCV000314625 RCV000270076 RCV000357655 RCV000372867 RCV000278400 RCV000365987 RCV000360014 RCV000315842 RCV000385474 RCV000341209 RCV000353981 RCV000370069 RCV000382070 RCV000376280 RCV000362679 RCV000315744 RCV000372765 RCV000350725 RCV000329403 RCV000339524 RCV000380137 RCV000286184 RCV000306514 RCV000322971 RCV000348787 RCV000308925 RCV000319313 RCV000289580 RCV000283778 RCV000306197 RCV000277033 RCV000278321 RCV000300818 RCV000313826 RCV000307159 RCV000261765 RCV000312246 RCV000382764 RCV000269739 RCV000285047 RCV000301363 RCV000365596 RCV000374169 RCV000293833 RCV000267678 RCV000346859 RCV000406662 RCV000300273 RCV000357356 RCV000404927 RCV000309029 RCV000378762 RCV000267891 RCV000280440 RCV000337775 RCV000293573 RCV000277883 RCV000405082 RCV000403446 RCV000267857 RCV000319541 RCV000404452 RCV000395720 RCV000354315 RCV000261835 RCV000334063 RCV000403048 RCV000313099 RCV000325109 RCV000271021 RCV000379883 RCV000348710
Autosomal recessive cerebellar ataxia	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs190532690, rs200016211, rs558572111, rs143083152	RCV000270397 RCV000274229 RCV000293515 RCV000328646
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs142797448, rs74909073, rs200435327	RCV005931996 RCV005892998 RCV005893005
Clear cell carcinoma of kidney	Benign	rs146602750	RCV005903115
Colorectal cancer	Benign; Likely benign	rs74909073	RCV005892999
Gastric cancer	Benign; Likely benign	rs3741359, rs74909073, rs146602750	RCV005922556 RCV005893001 RCV005903116
Hereditary spastic paraplegia	Uncertain significance	rs561053672	RCV005622193
Lung cancer	Benign; Likely benign	rs74909073	RCV005893003
Malignant tumor of esophagus	Benign; Likely benign	rs3741359, rs142797448	RCV005922555 RCV005931995
Malignant tumor of urinary bladder	Benign; Likely benign	rs144939155	RCV005892997
Melanoma	Benign; Likely benign	rs74909073	RCV005893002
Sarcoma	Benign; Likely benign	rs74909073	RCV005893000
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs749397149, rs572061488, rs2496311936, rs1258204858	RCV002253039 RCV002252444 RCV003985702 RCV002252222
SPTBN2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs34806527, rs773474294, rs373673230, rs368373337, rs140000699, rs370442239, rs548188891, rs368173749, rs377231549, rs150159444, rs374953065, rs144636685, rs2496311388, rs2495959819, rs749463565 View all (23 more)	RCV003910949 RCV003900839 RCV003893285 RCV003958639 RCV004753539 RCV003903432 RCV003896062 RCV003933722 RCV003926734 RCV004752774 RCV003973705 RCV004753593 RCV003416777 RCV003416919 RCV004731545 RCV003897695 RCV003930295 RCV003977886 RCV003901902 RCV003910122 RCV003940159 RCV003950028 RCV003930294 RCV003910123 RCV003940160 RCV003983005 RCV003983006 RCV003977885 RCV003979930 RCV003962438 RCV003915461 RCV003905308 RCV003980102 RCV003915990 RCV003962970 RCV003973005 RCV004753262 RCV003426028
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs150159444	RCV005889827
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs74909073	RCV005893004

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	23838597, 24030952, 29915382, 33318253, 36233161
Ataxia Telangiectasia Like Disorder	Associate	29915382
Azoospermia	Associate	33621950
Cerebellar Ataxia	Associate	23838597
Cerebellar Diseases	Associate	33756041, 33801522, 36233161
Cerebral Palsy	Associate	31721007
Cerebral Palsy Ataxic Autosomal Recessive	Associate	25981959, 31721007
Cognition Disorders	Associate	33801522
Colorectal Neoplasms	Associate	32749190, 35146902
Developmental Disabilities	Associate	31607427, 31721007, 33801522
Intellectual Disability	Associate	33318253
Malformations of Cortical Development	Associate	36233161
Muscle Hypotonia	Associate	33801522
Myopathies Structural Congenital	Associate	33801522
Neoplasms	Associate	32749190
Neurodegenerative Diseases	Associate	26883385, 33801522
Neurologic Manifestations	Associate	33847457
Obesity	Associate	37800791
Pain	Associate	32807182
Psychomotor Disorders	Associate	23838597
Spinocerebellar Ataxia 11	Associate	23838597
Spinocerebellar Ataxias	Associate	22843192, 23838597, 26883385, 29116080, 31721007, 33318253, 33756041, 33797620, 33801522, 33839680, 36731793, 37626910
Spinocerebellar Degenerations	Stimulate	21592489
Spinocerebellar Degenerations	Associate	24030952, 33318253, 33801522
Thyroid Cancer Papillary	Stimulate	35968508
Thyroid Neoplasms	Associate	35968508
Urinary Bladder Neoplasms	Associate	37800791

SPTBN2 (spectrin beta, non-erythrocytic 2)