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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9897
Gene name Gene Name - the full gene name approved by the HGNC.	WASH complex subunit 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	WASHC5
Synonyms (NCBI Gene) Gene synonyms aliases	KIAA0196, RTSC, RTSC1, SPG8
Disease Acronyms (UniProt) Disease acronyms from UniProt database	RTSC1, SPG8
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named fo

Show/Hide all(19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72720524	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338865	T>C	Pathogenic	Coding sequence variant, missense variant
rs80338866	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs80338867	C>A	Pathogenic	Coding sequence variant, missense variant
rs147434450	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs397515564	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs398123007	A>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs748167994	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs749056160	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs754463353	G>A	Pathogenic	Coding sequence variant, stop gained
rs765926045	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518000	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1362286755	G>A	Pathogenic	Stop gained, coding sequence variant
rs1462319941	G>A	Pathogenic	Stop gained, coding sequence variant
rs1554593899	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554593901	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1563627853	T>C	Likely-pathogenic	Splice acceptor variant
rs1563633906	->T	Pathogenic	Coding sequence variant, stop gained
rs1586362593	G>A	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all(4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT727382	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727380	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727381	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727379	hsa-miR-181d-5p	HITS-CLIP	22473208

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001556	Process	Oocyte maturation	IEA
GO:0005515	Function	Protein binding	IPI	20923837, 23331060, 23676666, 24643499
GO:0005654	Component	Nucleoplasm	IDA
GO:0005768	Component	Endosome	IBA	21873635
GO:0005769	Component	Early endosome	IDA	23676666
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IEA
GO:0007032	Process	Endosome organization	IBA	21873635
GO:0007040	Process	Lysosome organization	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016197	Process	Endosomal transport	IEA
GO:0030041	Process	Actin filament polymerization	IBA	21873635
GO:0034629	Process	Cellular protein-containing complex localization	IEA
GO:0040038	Process	Polar body extrusion after meiotic divisions	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0051125	Process	Regulation of actin nucleation	IBA	21873635
GO:0071203	Component	WASH complex	IBA	21873635
GO:0071203	Component	WASH complex	IDA	19922875
GO:0090306	Process	Spindle assembly involved in meiosis	IEA
GO:0097494	Process	Regulation of vesicle size	IEA
GO:0140285	Process	Endosome fission	IBA	21873635

MIM	HGNC	e!Ensembl
610657	28984	ENSG00000164961

Protein

UniProt ID

Q12768

Protein name

WASH complex subunit 5 (Strumpellin) (WASH complex subunit strumpellin)

Protein function

Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10266	Strumpellin	23 → 1103	Hereditary spastic paraplegia protein strumpellin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed ubiquitously. {ECO:0000269|PubMed:20833645}.

Sequence

MLDFLAENNLCGQAILRIVSCGNAIIAELLRLSEFIPAVFRLKDRADQQKYGDIIFDFSY
FKGPELWESKLDAKPELQDLDEEFRENNIEIVTRFYLAFQSVHKYIVDLNRYLDDLNEGV
YIQQTLETVLLNEDGKQLLCEALYLYGVMLLVIDQKIEGEVRERMLVSYYRYSAARSSAD
SNMDDICKLLRSTGYSSQPGAKRPSNYPESYFQRVPINESFISMVIGRLRSDDIYNQVSA
YPLPEHRSTALANQAAMLYVILYFEPSILHTHQAKMREIVDKYFPDNWVISIYMGITVNL
VDAWEPYKAAKTALNNTLDLSNVREQASRYATVSERVHAQVQQFLKEGYLREEMVLDNIP
KLLNCLRDCNVAIRWLMLHTADSACDPNNKRLRQIKDQILTDSRYNPRILFQLLLDTAQF
EFILKEMFKQMLSEKQTKWEHYKKEGSERMTELADVFSGVKPLTRVEKNENLQAWFREIS
KQILSLNYDDSTAAGRKTVQLIQALEEVQEFHQLESNLQVCQFLADTRKFLHQMIRTINI
KEEVLITMQIVGDLSFAWQLIDSFTSIMQESIRVNPSMVTKLRATFLKLASALDLPLLRI
NQANSPDLLSVSQYYSGELVSYVRKVLQIIPESMFTSLLKIIKLQTHDIIEVPTRLDKDK
LRDYAQLGPRYEVAKLTHAISIFTEGILMMKTTLVGIIKVDPKQLLEDGIRKELVKRVAF
ALHRGLIFNPRAKPSELMPKLKELGATMDGFHRSFEYIQDYVNIYGLKIWQEEVSRIINY
NVEQECNNFLRTKIQDWQSMYQSTHIPIPKFTPVDESVTFIGRLCREILRITDPKMTCHI
DQLNTWYDMKTHQEVTSSRLFSEIQTTLGTFGLNGLDRLLCFMIVKELQNFLSMFQKIIL
RDRTVQDTLKTLMNAVSPLKSIVANSNKIYFSAIAKTQKIWTAYLEAIMKVGQMQILRQQ
IANELNYSCRFDSKHLAAALENLNKALLADIEAHYQDPSLPYPKEDNTLLYEITAYLEAA
GIHNPLNKIYITTKRLPYFPIVNFLFLIAQLPKLQYNKNLGMVCRKPTDPVDWPPLVLGL
LTLLKQFHSRYTEQFLALIGQFICSTVEQCTSQKIPEIPADVVGALLFLEDYVRYTKLPR
RVAEAHVPNFIFDEFRTVL

Sequence length

1159

Interactions

View interactions

	KEGG
	Endocytosis

Show/Hide Causal Diseases (21)

Disease term	Disease name	dbSNP ID	References
Causal
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733 View all (171 more)	24931836
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Charcot-marie-tooth disease	Charcot-Marie-Tooth Disease	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295 View all (1137 more)
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Double outlet right ventricle	Double Outlet Right Ventricle	rs397514520, rs397514521
Frontotemporal dementia	Frontotemporal dementia	rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092 View all (31 more)	24931836
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypoplastic left heart syndrome	Hypoplastic Left Heart Syndrome	rs1554284604, rs1843006535
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Ritscher-schinzel syndrome	RITSCHER-SCHINZEL SYNDROME 1	rs398123007, rs863225428, rs863225429, rs1554593901	24065355, 24916641
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paraplegia	Spastic Paraplegia, Spastic paraplegia 8, autosomal dominant, Autosomal dominant spastic paraplegia type 8	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520 View all (368 more)	17160902, 20833645, 23881105, 24065355, 23455931, 24916641, 23085491, 25454649
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Spastic Paraplegia	hereditary spastic paraplegia 8			GenCC

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
3C syndrome	Associate	24916641
Amyotrophic Lateral Sclerosis	Associate	30778698
Atrioventricular Block	Associate	29768361
Atrophy	Stimulate	16143870
Colorectal Neoplasms	Associate	19520795
Leg Length Inequality	Associate	20923837
Neoplasms	Associate	33902514
Spastic Paraplegia Hereditary	Associate	16143870, 20923837, 23085491, 30778698
Spastic Paraplegia Type 8	Associate	29768361
Spinal Cord Diseases	Stimulate	16143870
Spinocerebellar Ataxias	Associate	30778698
Stomach Neoplasms	Associate	33902514

WASHC5 (WASH complex subunit 5)