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	6709
Gene name	Spectrin alpha, non-erythrocytic 1
Gene symbol	SPTAN1
Synonyms (NCBI Gene)	DEE5DEVEPEIEE5HMN11HMND11NEASSPG91SPTA2
Chromosome	9
Chromosome location	9q34.11
Summary	Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetra

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SNP ID	Visualize variation	Clinical significance	Consequence
rs34654141	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs72758823	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign, uncertain-significance	Synonymous variant, coding sequence variant
rs77358650	G>A	Likely-pathogenic, likely-benign, benign	Missense variant, coding sequence variant
rs138101005	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Coding sequence variant, synonymous variant
rs138985089	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs143166100	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs144787939	T>G	Likely-benign, benign, pathogenic	Missense variant, coding sequence variant
rs145038571	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs147132904	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Synonymous variant, coding sequence variant
rs147233101	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs147466898	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Synonymous variant, coding sequence variant
rs150870424	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs187613754	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Intron variant
rs200456378	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs200543425	T>G	Benign, likely-benign, pathogenic	Intron variant
rs202180736	G>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs371350283	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs373491498	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs377253398	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs377437879	G>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs398122865	AGC>-	Pathogenic	Inframe deletion, coding sequence variant
rs569997507	C>T	Uncertain-significance, likely-benign, pathogenic	Missense variant, coding sequence variant
rs587784438	GAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs587784440	ACCAGCTGG>-,ACCAGCTGGACCAGCTGG	Uncertain-significance, likely-pathogenic, pathogenic	Inframe insertion, inframe deletion, coding sequence variant
rs754528571	CCTA>-	Conflicting-interpretations-of-pathogenicity	Intron variant, splice acceptor variant
rs763385120	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs768986492	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs770046688	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs778489951	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs779993051	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs780658554	C>T	Pathogenic	Coding sequence variant, missense variant
rs796053298	G>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs796053322	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796053327	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796053332	CTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs796053334	->CAGCTGGGC	Likely-pathogenic	Coding sequence variant, inframe insertion
rs796053335	->GCATGC	Pathogenic	Coding sequence variant, inframe insertion
rs797046004	->AA	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs1305659962	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1339046005	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1441152520	A>G	Pathogenic	Missense variant, coding sequence variant
rs1554746442	AAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1554759745	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554769022	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554769099	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1564197227	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1564286708	C>T	Pathogenic	Missense variant, coding sequence variant
rs1589311413	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1589393179	->CTGCAG	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1589416130	CATCCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion

200

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miRTarBase ID	miRNA	Experiments	Reference
MIRT025260	hsa-miR-34a-5p	Proteomics	21566225
MIRT025260	hsa-miR-34a-5p	Proteomics	21566225
MIRT043347	hsa-miR-331-3p	CLASH	23622248
MIRT038805	hsa-miR-93-3p	CLASH	23622248
MIRT1386626	hsa-miR-103a	CLIP-seq
MIRT1386627	hsa-miR-107	CLIP-seq
MIRT1386628	hsa-miR-1264	CLIP-seq
MIRT1386629	hsa-miR-1272	CLIP-seq
MIRT1386630	hsa-miR-1275	CLIP-seq
MIRT1386631	hsa-miR-128	CLIP-seq
MIRT1386632	hsa-miR-134	CLIP-seq
MIRT1386633	hsa-miR-219-5p	CLIP-seq
MIRT1386634	hsa-miR-29a	CLIP-seq
MIRT1386635	hsa-miR-29b	CLIP-seq
MIRT1386636	hsa-miR-29c	CLIP-seq
MIRT1386637	hsa-miR-3118	CLIP-seq
MIRT1386638	hsa-miR-3164	CLIP-seq
MIRT1386639	hsa-miR-3606	CLIP-seq
MIRT1386640	hsa-miR-3609	CLIP-seq
MIRT1386641	hsa-miR-3616-3p	CLIP-seq
MIRT1386642	hsa-miR-3654	CLIP-seq
MIRT1386643	hsa-miR-3669	CLIP-seq
MIRT1386644	hsa-miR-3682-3p	CLIP-seq
MIRT1386645	hsa-miR-3977	CLIP-seq
MIRT1386646	hsa-miR-3978	CLIP-seq
MIRT1386647	hsa-miR-4260	CLIP-seq
MIRT1386648	hsa-miR-4279	CLIP-seq
MIRT1386649	hsa-miR-4286	CLIP-seq
MIRT1386650	hsa-miR-4436b-3p	CLIP-seq
MIRT1386651	hsa-miR-4445	CLIP-seq
MIRT1386652	hsa-miR-4525	CLIP-seq
MIRT1386653	hsa-miR-4665-5p	CLIP-seq
MIRT1386654	hsa-miR-4666-5p	CLIP-seq
MIRT1386655	hsa-miR-4690-5p	CLIP-seq
MIRT1386656	hsa-miR-4708-3p	CLIP-seq
MIRT1386657	hsa-miR-4720-3p	CLIP-seq
MIRT1386658	hsa-miR-4721	CLIP-seq
MIRT1386659	hsa-miR-4723-5p	CLIP-seq
MIRT1386660	hsa-miR-4728-5p	CLIP-seq
MIRT1386661	hsa-miR-4729	CLIP-seq
MIRT1386662	hsa-miR-4782-3p	CLIP-seq
MIRT1386663	hsa-miR-508-3p	CLIP-seq
MIRT1386664	hsa-miR-511	CLIP-seq
MIRT1386665	hsa-miR-548ah	CLIP-seq
MIRT1386666	hsa-miR-570	CLIP-seq
MIRT1386667	hsa-miR-582-5p	CLIP-seq
MIRT1386668	hsa-miR-625	CLIP-seq
MIRT1386669	hsa-miR-758	CLIP-seq
MIRT1386670	hsa-miR-767-5p	CLIP-seq
MIRT1386671	hsa-miR-921	CLIP-seq
MIRT1386626	hsa-miR-103a	CLIP-seq
MIRT1386627	hsa-miR-107	CLIP-seq
MIRT1386672	hsa-miR-1262	CLIP-seq
MIRT1386628	hsa-miR-1264	CLIP-seq
MIRT1386629	hsa-miR-1272	CLIP-seq
MIRT1386630	hsa-miR-1275	CLIP-seq
MIRT1386631	hsa-miR-128	CLIP-seq
MIRT1386632	hsa-miR-134	CLIP-seq
MIRT1386673	hsa-miR-1915	CLIP-seq
MIRT1386633	hsa-miR-219-5p	CLIP-seq
MIRT1386634	hsa-miR-29a	CLIP-seq
MIRT1386635	hsa-miR-29b	CLIP-seq
MIRT1386636	hsa-miR-29c	CLIP-seq
MIRT1386637	hsa-miR-3118	CLIP-seq
MIRT1386638	hsa-miR-3164	CLIP-seq
MIRT1386639	hsa-miR-3606	CLIP-seq
MIRT1386641	hsa-miR-3616-3p	CLIP-seq
MIRT1386642	hsa-miR-3654	CLIP-seq
MIRT1386644	hsa-miR-3682-3p	CLIP-seq
MIRT1386645	hsa-miR-3977	CLIP-seq
MIRT1386646	hsa-miR-3978	CLIP-seq
MIRT1386674	hsa-miR-4270	CLIP-seq
MIRT1386675	hsa-miR-4271	CLIP-seq
MIRT1386648	hsa-miR-4279	CLIP-seq
MIRT1386649	hsa-miR-4286	CLIP-seq
MIRT1386650	hsa-miR-4436b-3p	CLIP-seq
MIRT1386676	hsa-miR-4441	CLIP-seq
MIRT1386651	hsa-miR-4445	CLIP-seq
MIRT1386652	hsa-miR-4525	CLIP-seq
MIRT1386677	hsa-miR-4651	CLIP-seq
MIRT1386653	hsa-miR-4665-5p	CLIP-seq
MIRT1386655	hsa-miR-4690-5p	CLIP-seq
MIRT1386678	hsa-miR-4701-3p	CLIP-seq
MIRT1386656	hsa-miR-4708-3p	CLIP-seq
MIRT1386657	hsa-miR-4720-3p	CLIP-seq
MIRT1386658	hsa-miR-4721	CLIP-seq
MIRT1386659	hsa-miR-4723-5p	CLIP-seq
MIRT1386679	hsa-miR-4725-3p	CLIP-seq
MIRT1386661	hsa-miR-4729	CLIP-seq
MIRT1386662	hsa-miR-4782-3p	CLIP-seq
MIRT1386680	hsa-miR-503	CLIP-seq
MIRT1386663	hsa-miR-508-3p	CLIP-seq
MIRT1386667	hsa-miR-582-5p	CLIP-seq
MIRT1386681	hsa-miR-608	CLIP-seq
MIRT1386668	hsa-miR-625	CLIP-seq
MIRT1386669	hsa-miR-758	CLIP-seq
MIRT1386670	hsa-miR-767-5p	CLIP-seq
MIRT1386671	hsa-miR-921	CLIP-seq
MIRT1554116	hsa-miR-185	CLIP-seq
MIRT1554117	hsa-miR-3925-5p	CLIP-seq
MIRT1554118	hsa-miR-4306	CLIP-seq
MIRT1554119	hsa-miR-4644	CLIP-seq
MIRT1554120	hsa-miR-765	CLIP-seq
MIRT1386626	hsa-miR-103a	CLIP-seq
MIRT1386627	hsa-miR-107	CLIP-seq
MIRT1386656	hsa-miR-4708-3p	CLIP-seq
MIRT1386680	hsa-miR-503	CLIP-seq
MIRT1386630	hsa-miR-1275	CLIP-seq
MIRT1386675	hsa-miR-4271	CLIP-seq
MIRT1386652	hsa-miR-4525	CLIP-seq
MIRT1386653	hsa-miR-4665-5p	CLIP-seq
MIRT1386659	hsa-miR-4723-5p	CLIP-seq
MIRT1386679	hsa-miR-4725-3p	CLIP-seq
MIRT1386661	hsa-miR-4729	CLIP-seq
MIRT1386664	hsa-miR-511	CLIP-seq
MIRT1386668	hsa-miR-625	CLIP-seq
MIRT1386630	hsa-miR-1275	CLIP-seq
MIRT1386675	hsa-miR-4271	CLIP-seq
MIRT1386652	hsa-miR-4525	CLIP-seq
MIRT1386653	hsa-miR-4665-5p	CLIP-seq
MIRT1386659	hsa-miR-4723-5p	CLIP-seq
MIRT1386679	hsa-miR-4725-3p	CLIP-seq
MIRT1386661	hsa-miR-4729	CLIP-seq
MIRT1386664	hsa-miR-511	CLIP-seq
MIRT1386668	hsa-miR-625	CLIP-seq
MIRT1386628	hsa-miR-1264	CLIP-seq
MIRT1386646	hsa-miR-3978	CLIP-seq
MIRT1386655	hsa-miR-4690-5p	CLIP-seq
MIRT1386657	hsa-miR-4720-3p	CLIP-seq
MIRT1386667	hsa-miR-582-5p	CLIP-seq
MIRT1386626	hsa-miR-103a	CLIP-seq
MIRT1386627	hsa-miR-107	CLIP-seq
MIRT1386672	hsa-miR-1262	CLIP-seq
MIRT1386628	hsa-miR-1264	CLIP-seq
MIRT1386629	hsa-miR-1272	CLIP-seq
MIRT1386630	hsa-miR-1275	CLIP-seq
MIRT1386631	hsa-miR-128	CLIP-seq
MIRT1386632	hsa-miR-134	CLIP-seq
MIRT1554116	hsa-miR-185	CLIP-seq
MIRT1386673	hsa-miR-1915	CLIP-seq
MIRT1386633	hsa-miR-219-5p	CLIP-seq
MIRT1386634	hsa-miR-29a	CLIP-seq
MIRT1386635	hsa-miR-29b	CLIP-seq
MIRT1386636	hsa-miR-29c	CLIP-seq
MIRT1386637	hsa-miR-3118	CLIP-seq
MIRT1386638	hsa-miR-3164	CLIP-seq
MIRT1386639	hsa-miR-3606	CLIP-seq
MIRT1386640	hsa-miR-3609	CLIP-seq
MIRT1386641	hsa-miR-3616-3p	CLIP-seq
MIRT1386642	hsa-miR-3654	CLIP-seq
MIRT1386644	hsa-miR-3682-3p	CLIP-seq
MIRT1554117	hsa-miR-3925-5p	CLIP-seq
MIRT1386645	hsa-miR-3977	CLIP-seq
MIRT1386646	hsa-miR-3978	CLIP-seq
MIRT1386647	hsa-miR-4260	CLIP-seq
MIRT1386674	hsa-miR-4270	CLIP-seq
MIRT1386675	hsa-miR-4271	CLIP-seq
MIRT1386648	hsa-miR-4279	CLIP-seq
MIRT1386649	hsa-miR-4286	CLIP-seq
MIRT1554118	hsa-miR-4306	CLIP-seq
MIRT1386650	hsa-miR-4436b-3p	CLIP-seq
MIRT1386676	hsa-miR-4441	CLIP-seq
MIRT1386651	hsa-miR-4445	CLIP-seq
MIRT1386652	hsa-miR-4525	CLIP-seq
MIRT1554119	hsa-miR-4644	CLIP-seq
MIRT1386677	hsa-miR-4651	CLIP-seq
MIRT1386653	hsa-miR-4665-5p	CLIP-seq
MIRT1386654	hsa-miR-4666-5p	CLIP-seq
MIRT1386655	hsa-miR-4690-5p	CLIP-seq
MIRT1386678	hsa-miR-4701-3p	CLIP-seq
MIRT1386656	hsa-miR-4708-3p	CLIP-seq
MIRT1386657	hsa-miR-4720-3p	CLIP-seq
MIRT1386658	hsa-miR-4721	CLIP-seq
MIRT1386659	hsa-miR-4723-5p	CLIP-seq
MIRT1386679	hsa-miR-4725-3p	CLIP-seq
MIRT1386660	hsa-miR-4728-5p	CLIP-seq
MIRT1386661	hsa-miR-4729	CLIP-seq
MIRT1386662	hsa-miR-4782-3p	CLIP-seq
MIRT1386680	hsa-miR-503	CLIP-seq
MIRT1386663	hsa-miR-508-3p	CLIP-seq
MIRT1386664	hsa-miR-511	CLIP-seq
MIRT1386665	hsa-miR-548ah	CLIP-seq
MIRT1386666	hsa-miR-570	CLIP-seq
MIRT1386667	hsa-miR-582-5p	CLIP-seq
MIRT1386681	hsa-miR-608	CLIP-seq
MIRT1386668	hsa-miR-625	CLIP-seq
MIRT1386669	hsa-miR-758	CLIP-seq
MIRT1554120	hsa-miR-765	CLIP-seq
MIRT1386670	hsa-miR-767-5p	CLIP-seq
MIRT1386671	hsa-miR-921	CLIP-seq
MIRT1386645	hsa-miR-3977	CLIP-seq
MIRT1386655	hsa-miR-4690-5p	CLIP-seq
MIRT1386657	hsa-miR-4720-3p	CLIP-seq
MIRT1386626	hsa-miR-103a	CLIP-seq
MIRT1386627	hsa-miR-107	CLIP-seq
MIRT1386640	hsa-miR-3609	CLIP-seq
MIRT1386646	hsa-miR-3978	CLIP-seq
MIRT1386656	hsa-miR-4708-3p	CLIP-seq
MIRT1386665	hsa-miR-548ah	CLIP-seq
MIRT1386667	hsa-miR-582-5p	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	2307671
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	2307671
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12571280, 12820899, 15328537, 16336193, 17043677, 19102630, 20706999, 29961565, 30021884, 31413325, 35271311
GO:0005516	Function	Calmodulin binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005938	Component	Cell cortex	IEA
GO:0008091	Component	Spectrin	TAS	2307671
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	TAS	2307671
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0030864	Component	Cortical actin cytoskeleton	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0042995	Component	Cell projection	IBA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051693	Process	Actin filament capping	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904724	Component	Tertiary granule lumen	TAS

MIM	HGNC	e!Ensembl
182810	11273	ENSG00000197694

Q13813

Protein name

Spectrin alpha chain, non-erythrocytic 1 (Alpha-II spectrin) (Fodrin alpha chain) (Spectrin, non-erythroid alpha subunit)

Protein function

Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.

PDB

2FOT , 3F31 , 3FB2 , 5FW9 , 5FWB , 5FWC , 6ZEH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00435	Spectrin	44 → 147	Spectrin repeat	Domain
PF00435	Spectrin	149 → 252	Spectrin repeat	Domain
PF00435	Spectrin	255 → 359	Spectrin repeat	Domain
PF00435	Spectrin	361 → 465	Spectrin repeat	Domain
PF00435	Spectrin	467 → 571	Spectrin repeat	Domain
PF00435	Spectrin	573 → 676	Spectrin repeat	Domain
PF00435	Spectrin	678 → 782	Spectrin repeat	Domain
PF00435	Spectrin	784 → 888	Spectrin repeat	Domain
PF00435	Spectrin	890 → 973	Spectrin repeat	Domain
PF00018	SH3_1	973 → 1018	SH3 domain	Domain
PF00435	Spectrin	1092 → 1175	Spectrin repeat	Domain
PF00435	Spectrin	1233 → 1337	Spectrin repeat	Domain
PF00435	Spectrin	1339 → 1443	Spectrin repeat	Domain
PF00435	Spectrin	1445 → 1549	Spectrin repeat	Domain
PF00435	Spectrin	1551 → 1656	Spectrin repeat	Domain
PF00435	Spectrin	1658 → 1762	Spectrin repeat	Domain
PF00435	Spectrin	1764 → 1868	Spectrin repeat	Domain
PF00435	Spectrin	1870 → 1974	Spectrin repeat	Domain
PF00435	Spectrin	1976 → 2081	Spectrin repeat	Domain
PF00435	Spectrin	2091 → 2195	Spectrin repeat	Domain
PF00435	Spectrin	2205 → 2310	Spectrin repeat	Domain
PF13499	EF-hand_7	2325 → 2396	EF-hand domain pair	Domain
PF08726	EFhand_Ca_insen	2402 → 2471	Ca2+ insensitive EF hand	Domain

Sequence

MDPSGVKVLETAEDIQERRQQVLDRYHRFKELSTLRRQKLEDSYRFQFFQRDAEELEKWI
QEKLQIASDENYKDPTNLQGKLQKHQAFEAEVQANSGAIVKLDETGNLMISEGHFASETI
RTRLMELHRQWELLLEKMREKGIKLLQAQKLVQYLRECEDVMDWINDKEAIVTSEELGQD
LEHVEVLQKKFEEFQTDMAAHEERVNEVNQFAAKLIQEQHPEEELIKTKQDEVNAAWQRL
KGLALQRQGKLFGAAEVQRFNRDVDETISWIKEKEQLMASDDFGRDLASVQALLRKHEGL
ERDLAALEDKVKALCAEADRLQQSHPLSATQIQVKREELITNWEQIRTLAAERHARLNDS
YRLQRFLADFRDLTSWVTEMKALINADELASDVAGAEALLDRHQEHKGEIDAHEDSFKSA
DESGQALLAAGHYASDEVREKLTVLSEERAALLELWELRRQQYEQCMDLQLFYRDTEQVD
NWMSKQEAFLLNEDLGDSLDSVEALLKKHEDFEKSLSAQEEKITALDEFATKLIQNNHYA
MEDVATRRDALLSRRNALHERAMRRRAQLADSFHLQQFFRDSDELKSWVNEKMKTATDEA
YKDPSNLQGKVQKHQAFEAELSANQSRIDALEKAGQKLIDVNHYAKDEVAARMNEVISLW
KKLLEATELKGIKLREANQQQQFNRNVEDIELWLYEVEGHLASDDYGKDLTNVQNLQKKH
ALLEADVAAHQDRIDGITIQARQFQDAGHFDAENIKKKQEALVARYEALKEPMVARKQKL
ADSLRLQQLFRDVEDEETWIREKEPIAASTNRGKDLIGVQNLLKKHQALQAEIAGHEPRI
KAVTQKGNAMVEEGHFAAEDVKAKLHELNQKWEALKAKASQRRQDLEDSLQAQQYFADAN
EAESWMREKEPIVGSTDYGKDEDSAEALLKKHEALMSDLSAYGSSIQALREQAQSCRQQV
APTDDETGKELVLALYDYQEKSPREVTMKKGDILTLLNSTNKDWWKVEVNDRQGFVPAAY
VKKLDPAQSASRENLLEEQGSIALRQEQIDNQTRITKEAGSVSLRMKQVEELYHSLLELG
EKRKGMLEKSCKKFMLFREANELQQWINEKEAALTSEEVGADLEQVEVLQKKFDDFQKDL
KANESRLKDINKVAEDLESEGLMAEEVQAVQQQEVYGMMPRDETDSKTASPWKSARLMVH
TVATFNSIKELNERWRSLQQLAEERSQLLGSAHEVQRFHRDADETKEWIEEKNQALNTDN
YGHDLASVQALQRKHEGFERDLAALGDKVNSLGETAERLIQSHPESAEDLQEKCTELNQA
WSSLGKRADQRKAKLGDSHDLQRFLSDFRDLMSWINGIRGLVSSDELAKDVTGAEALLER
HQEHRTEIDARAGTFQAFEQFGQQLLAHGHYASPEIKQKLDILDQERADLEKAWVQRRMM
LDQCLELQLFHRDCEQAENWMAAREAFLNTEDKGDSLDSVEALIKKHEDFDKAINVQEEK
IAALQAFADQLIAAGHYAKGDISSRRNEVLDRWRRLKAQMIEKRSKLGESQTLQQFSRDV
DEIEAWISEKLQTASDESYKDPTNIQSKHQKHQAFEAELHANADRIRGVIDMGNSLIERG
ACAGSEDAVKARLAALADQWQFLVQKSAEKSQKLKEANKQQNFNTGIKDFDFWLSEVEAL
LASEDYGKDLASVNNLLKKHQLLEADISAHEDRLKDLNSQADSLMTSSAFDTSQVKDKRD
TINGRFQKIKSMAASRRAKLNESHRLHQFFRDMDDEESWIKEKKLLVGSEDYGRDLTGVQ
NLRKKHKRLEAELAAHEPAIQGVLDTGKKLSDDNTIGKEEIQQRLAQFVEHWKELKQLAA
ARGQRLEESLEYQQFVANVEEEEAWINEKMTLVASEDYGDTLAAIQGLLKKHEAFETDFT
VHKDRVNDVCTNGQDLIKKNNHHEENISSKMKGLNGKVSDLEKAAAQRKAKLDENSAFLQ
FNWKADVVESWIGEKENSLKTDDYGRDLSSVQTLLTKQETFDAGLQAFQQEGIANITALK
DQLLAAKHVQSKAIEARHASLMKRWSQLLANSAARKKKLLEAQSHFRKVEDLFLTFAKKA
SAFNSWFENAEEDLTDPVRCNSLEEIKALREAHDAFRSSLSSAQADFNQLAELDRQIKSF
RVASNPYTWFTMEALEETWRNLQKIIKERELELQKEQRRQEENDKLRQEFAQHANAFHQW
IQETRTYLLDGSCMVEESGTLESQLEATKRKHQEIRAMRSQLKKIEDLGAAMEEALILDN
KYTEHSTVGLAQQWDQLDQLGMRMQHNLEQQIQARNTTGVTEEALKEFSMMFKHFDKDKS
GRLNHQEFKSCLRSLGYDLPMVEEGEPDPEFEAILDTVDPNRDGHVSLQEYMAFMISRET
ENVKSSEEIESAFRALSSEGKPYVTKEELYQNLTREQADYCVSHMKPYVDGKGRELPTAF
DYVEFTRSLFVN

Sequence length

2472

Interactions

View interactions

	KEGG		Reactome
	Apoptosis Cytoskeleton in muscle cells		Caspase-mediated cleavage of cytoskeletal proteins NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade Neutrophil degranulation COPI-mediated anterograde transport

2879

Show/Hide Causal Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs1131691643	RCV001258010
Developmental and epileptic encephalopathy	Pathogenic; Likely pathogenic	rs1853049371, rs2131088567, rs2131744077, rs2131239154, rs2132090668, rs2132105386, rs2131965427, rs2131012464, rs2131952314, rs2131193011, rs2131360489, rs2131028639, rs587784438, rs587784440, rs1554768992 View all (27 more)	RCV001341404 RCV001361907 RCV001379812 RCV001907191 RCV001930448 RCV001976101 RCV002030742 RCV001911399 RCV001880471 RCV002023377 RCV001975039 RCV002040820 RCV001236667 RCV000696609 RCV001852513 RCV001231695 RCV002861659 RCV002867610 RCV003012286 RCV003045815 RCV003026752 RCV003053514 RCV003066266 RCV003777418 RCV003589502 RCV003589730 RCV003590854 RCV003589352 RCV003753440 RCV003754767 RCV003589571 RCV000636277 RCV000636363 RCV000803395 RCV003753158 RCV001041069 RCV001046158 RCV001047956 RCV001224500 RCV001232789 RCV001244065 RCV001880161 RCV001302647
Developmental and epileptic encephalopathy, 5	Likely pathogenic; Pathogenic	rs1856289676, rs1851109762, rs2131985621, rs2132088836, rs796053334, rs2130975930, rs2131012797, rs2131011877, rs2131030804, rs2132089818, rs587784438, rs587784440, rs2132106592, rs2542380737, rs1554767335 View all (20 more)	RCV001328004 RCV001375988 RCV001785330 RCV001785331 RCV001785332 RCV001785333 RCV001785334 RCV001814606 RCV002221822 RCV002246741 RCV000147650 RCV000147656 RCV002276477 RCV002468868 RCV001548760 RCV001542587 RCV001781558 RCV002510568 RCV001195886 RCV003333522 RCV004784147 RCV003984937 RCV003991262 RCV003991361 RCV003992646 RCV001257087 RCV000504027 RCV000029155 RCV000767382 RCV000779644 RCV000824688 RCV000984874 RCV003336289 RCV001253713 RCV001780223 RCV001290348
Developmental delay with or without epilepsy	Likely pathogenic; Pathogenic	rs2131012797, rs587784440, rs2541012589	RCV003336434 RCV003335186 RCV003391174
Distal lower limb muscle weakness	Likely pathogenic	rs1851867365	RCV001328478
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs796053335	RCV000416988
Focal epilepsy	Likely pathogenic; Pathogenic	rs587784440	RCV000416957
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs2131938862	RCV004785300
Neurodevelopmental abnormality	Likely pathogenic; Pathogenic	rs2541012589	RCV005245549
Neurodevelopmental disorder	Likely pathogenic	rs2541941372	RCV003389165
Neuronopathy, distal hereditary motor, autosomal dominant 11	Likely pathogenic; Pathogenic	rs1851109762, rs2131635386, rs2542207780, rs2541012589, rs2541454325	RCV003333159 RCV003330353 RCV003330354 RCV003391174 RCV003445294
See cases	Likely pathogenic; Pathogenic	rs2131851851, rs587784440	RCV001420287 RCV001420284
Seizure	Likely pathogenic	rs2131341713	RCV001849840
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1554759745, rs1441152520	RCV000656026 RCV000656027
Spastic ataxia	Likely pathogenic	rs1856600618	RCV001647145
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	Likely pathogenic; Pathogenic	rs1858669268	RCV003336290
SPTAN1-related disorder	Likely pathogenic; Pathogenic	rs587784438, rs587784440, rs2542169047, rs2131164463, rs2541157238, rs1131691643	RCV004551284 RCV004551285 RCV005230049 RCV004548372 RCV004554098 RCV004552407 RCV004551619
Undetermined early-onset epileptic encephalopathy	Likely pathogenic; Pathogenic	rs587784440	RCV001249449

Show/Hide Unknown Diseases (34)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal brain morphology	Benign	rs77358650	RCV000454129
Acute myeloid leukemia	Benign; Likely benign	rs139049596, rs142682344, rs3763599	RCV005886860 RCV005886863 RCV005905672
Autism spectrum disorder	Likely benign	rs1857812190, rs760755333	RCV003127273 RCV003128040
Bilateral tonic-clonic seizure	Conflicting classifications of pathogenicity	rs147132904	RCV000678850
Cervical cancer	Benign	rs16930539	RCV005886869
Cholangiocarcinoma	Benign	rs3763599	RCV005905675
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs139049596	RCV005886861
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity	rs16930539, rs145038571, rs138985089	RCV005886870 RCV005889942 RCV005892004
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs145038571	RCV005889941
Developmental disorder	Conflicting classifications of pathogenicity	rs2132094752	RCV001843587
Distal spinal muscular atrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs2131267665, rs147444364	RCV002471141 RCV002225099
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity	rs770948927, rs372825476, rs554161838	RCV000360311 RCV000352510 RCV000403853
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	rs139799727, rs145038571, rs141696651, rs746651127	RCV005886864 RCV005889940 RCV005892200 RCV005900161
Familial prostate cancer	Benign	rs150960451	RCV005914223
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity	rs762562811, rs145038571, rs1064795314	RCV005921310 RCV005889943 RCV005869497
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs2132094752, rs373973880, rs796053322, rs370748662, rs781645028, rs1851359356, rs527570862, rs1860025750	RCV001391296 RCV005625412 RCV005625414 RCV005625606 RCV005625616 RCV001252108 RCV001260787 RCV001260850
Landau-Kleffner syndrome	Conflicting classifications of pathogenicity	rs794727356	RCV000678849
Lung cancer	Benign; Likely benign; Uncertain significance	rs139799727, rs16930539, rs2541155182	RCV005886866 RCV005886876 RCV005934698
Lymphedema	Conflicting classifications of pathogenicity; Benign; Likely benign	rs552623597, rs141980692	RCV005625415 RCV005625413
Malignant tumor of esophagus	Likely benign; Benign	rs886972447, rs16930539, rs770948927	RCV005912844 RCV005886867 RCV005868062
Malignant tumor of urinary bladder	Uncertain significance	rs1858641214	RCV005908983
Melanoma	Conflicting classifications of pathogenicity	rs145038571	RCV005889945
Microcephaly	Benign; Likely benign	rs145551982	RCV001252828
Neuromuscular disease	Conflicting classifications of pathogenicity; Uncertain significance	rs2131162364, rs2542145452	RCV004801941 RCV004586496
Nonpapillary renal cell carcinoma	Benign	rs16930539, rs2227864	RCV005886868 RCV005888237
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs16930539, rs2227864, rs3763599, rs772780483	RCV005886872 RCV005888238 RCV005905673 RCV005909039
Peripheral neuropathy	Conflicting classifications of pathogenicity	rs574740801	RCV000449497
Sarcoma	Benign	rs16930539	RCV005886871
Thymoma	Benign; Conflicting classifications of pathogenicity	rs16930539, rs145038571, rs3763599	RCV005886874 RCV005889944 RCV005905674
Thyroid cancer, nonmedullary, 1	Benign	rs16930539, rs2227864	RCV005886875 RCV005888239
Uterine carcinosarcoma	Benign; Likely benign	rs139799727, rs16930539	RCV005886865 RCV005886873
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	rs28676915, rs16930539, rs777355476, rs3763599	RCV005886862 RCV005886877 RCV005900160 RCV005905676
Variant of unknown significance	Uncertain significance	rs370304886	RCV000029156
Werdnig-Hoffmann disease	Conflicting classifications of pathogenicity	rs377253398	RCV005863034

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	24894543
Alcohol Related Disorders	Associate	29050398
Alopecia	Associate	35830358
Ataxia	Associate	35150594
Brain Diseases	Associate	22429196, 22722545, 29050398, 29986434
Cerebellar Ataxia	Associate	35150594
Cerebellar Diseases	Associate	29050398
Chromosomal Instability	Associate	19217883
Coloboma	Associate	22429196
Colorectal Neoplasms	Associate	24456667
Colorectal Neoplasms	Stimulate	30856214
Demyelinating Diseases	Associate	22429196, 22722545, 29050398
Developmental Disabilities	Associate	22429196
Dystonic Disorders	Associate	22722545
Epilepsy	Associate	22722545, 29050398, 29986434, 35150594
Epilepsy Post Traumatic	Associate	29188495
Glioblastoma	Associate	34067543
Glycogen Storage Disease 0 Muscle	Associate	35830358
Hyperpigmentation	Associate	35830358
Infantile Epileptic Dyskinetic Encephalopathy	Associate	29986434
Intellectual Disability	Associate	22722545, 29050398, 35150594
Leukemia Lymphoma Adult T Cell	Associate	23538341
Mental Disorders	Associate	29050398
Mental Retardation X Linked Syndromic Christianson Type	Associate	34653234
Microphthalmia Syndromic 10	Associate	22429196, 29050398
Neoplasm Metastasis	Associate	30856214
Neoplasms	Associate	24894543, 30856214
Neoplastic Syndromes Hereditary	Associate	35150594
Nervous System Diseases	Associate	29050398
Neurologic Manifestations	Associate	33847457
Paraplegia	Associate	35150594
Pontocerebellar Hypoplasia Type 1	Associate	29050398
Seizures	Associate	22429196
Sjogren's Syndrome	Associate	11313424
Spasms Infantile	Associate	21880993, 22429196, 22722545, 29050398
Spastic Ataxia	Associate	35150594
Trauma Nervous System	Associate	29986434
Vascular Diseases	Associate	22722545

SPTAN1 (spectrin alpha, non-erythrocytic 1)