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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6840
Gene name Gene Name - the full gene name approved by the HGNC.	Supervillin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SVIL
Synonyms (NCBI Gene) Gene synonyms aliases	MFM10
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MFM10
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p11.23
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the

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SNP ID	Visualize variation	Clinical significance	Consequence
rs767673427	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant

Show/Hide all(166)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016778	hsa-miR-335-5p	Microarray	18185580
MIRT051583	hsa-let-7e-5p	CLASH	23622248
MIRT040980	hsa-miR-18a-3p	CLASH	23622248
MIRT039692	hsa-miR-615-3p	CLASH	23622248
MIRT1404644	hsa-miR-204	CLIP-seq
MIRT1404645	hsa-miR-211	CLIP-seq
MIRT1404646	hsa-miR-3613-3p	CLIP-seq
MIRT1404647	hsa-miR-3977	CLIP-seq
MIRT1404648	hsa-miR-3978	CLIP-seq
MIRT1404649	hsa-miR-4755-5p	CLIP-seq
MIRT1404650	hsa-miR-4780	CLIP-seq
MIRT1404651	hsa-miR-520d-5p	CLIP-seq
MIRT1404652	hsa-miR-524-5p	CLIP-seq
MIRT1404653	hsa-miR-623	CLIP-seq
MIRT1404654	hsa-miR-124	CLIP-seq
MIRT1404655	hsa-miR-1284	CLIP-seq
MIRT1404656	hsa-miR-15a	CLIP-seq
MIRT1404657	hsa-miR-15b	CLIP-seq
MIRT1404658	hsa-miR-16	CLIP-seq
MIRT1404659	hsa-miR-195	CLIP-seq
MIRT1404660	hsa-miR-2110	CLIP-seq
MIRT1404661	hsa-miR-2682	CLIP-seq
MIRT1404662	hsa-miR-302a	CLIP-seq
MIRT1404663	hsa-miR-302b	CLIP-seq
MIRT1404664	hsa-miR-302c	CLIP-seq
MIRT1404665	hsa-miR-302d	CLIP-seq
MIRT1404666	hsa-miR-302e	CLIP-seq
MIRT1404667	hsa-miR-3140-5p	CLIP-seq
MIRT1404668	hsa-miR-3150a-3p	CLIP-seq
MIRT1404669	hsa-miR-3150a-5p	CLIP-seq
MIRT1404670	hsa-miR-3150b-5p	CLIP-seq
MIRT1404671	hsa-miR-3165	CLIP-seq
MIRT1404672	hsa-miR-3175	CLIP-seq
MIRT1404673	hsa-miR-34a	CLIP-seq
MIRT1404674	hsa-miR-34c-5p	CLIP-seq
MIRT1404675	hsa-miR-3714	CLIP-seq
MIRT1404676	hsa-miR-372	CLIP-seq
MIRT1404677	hsa-miR-373	CLIP-seq
MIRT1404678	hsa-miR-3927	CLIP-seq
MIRT1404679	hsa-miR-424	CLIP-seq
MIRT1404680	hsa-miR-4260	CLIP-seq
MIRT1404681	hsa-miR-4477a	CLIP-seq
MIRT1404682	hsa-miR-449a	CLIP-seq
MIRT1404683	hsa-miR-449b	CLIP-seq
MIRT1404684	hsa-miR-449c	CLIP-seq
MIRT1404685	hsa-miR-4524	CLIP-seq
MIRT1404686	hsa-miR-4650-3p	CLIP-seq
MIRT1404687	hsa-miR-4720-3p	CLIP-seq
MIRT1404688	hsa-miR-4762-3p	CLIP-seq
MIRT1404689	hsa-miR-4790-3p	CLIP-seq
MIRT1404690	hsa-miR-497	CLIP-seq
MIRT1404691	hsa-miR-503	CLIP-seq
MIRT1404692	hsa-miR-506	CLIP-seq
MIRT1404693	hsa-miR-519a	CLIP-seq
MIRT1404694	hsa-miR-519b-3p	CLIP-seq
MIRT1404695	hsa-miR-519c-3p	CLIP-seq
MIRT1404696	hsa-miR-520a-3p	CLIP-seq
MIRT1404697	hsa-miR-520b	CLIP-seq
MIRT1404698	hsa-miR-520c-3p	CLIP-seq
MIRT1404699	hsa-miR-520d-3p	CLIP-seq
MIRT1404700	hsa-miR-520e	CLIP-seq
MIRT1404701	hsa-miR-548ac	CLIP-seq
MIRT1404702	hsa-miR-548ae	CLIP-seq
MIRT1404703	hsa-miR-548ag	CLIP-seq
MIRT1404704	hsa-miR-548ai	CLIP-seq
MIRT1404705	hsa-miR-548aj	CLIP-seq
MIRT1404706	hsa-miR-548am	CLIP-seq
MIRT1404707	hsa-miR-548d-3p	CLIP-seq
MIRT1404708	hsa-miR-548x	CLIP-seq
MIRT1404709	hsa-miR-548z	CLIP-seq
MIRT1404710	hsa-miR-646	CLIP-seq
MIRT1404711	hsa-miR-939	CLIP-seq
MIRT1404662	hsa-miR-302a	CLIP-seq
MIRT1404663	hsa-miR-302b	CLIP-seq
MIRT1404664	hsa-miR-302c	CLIP-seq
MIRT1404665	hsa-miR-302d	CLIP-seq
MIRT1404666	hsa-miR-302e	CLIP-seq
MIRT1404676	hsa-miR-372	CLIP-seq
MIRT1404677	hsa-miR-373	CLIP-seq
MIRT2121412	hsa-miR-3925-3p	CLIP-seq
MIRT1404648	hsa-miR-3978	CLIP-seq
MIRT1404687	hsa-miR-4720-3p	CLIP-seq
MIRT2121413	hsa-miR-515-5p	CLIP-seq
MIRT1404693	hsa-miR-519a	CLIP-seq
MIRT1404694	hsa-miR-519b-3p	CLIP-seq
MIRT1404695	hsa-miR-519c-3p	CLIP-seq
MIRT1404696	hsa-miR-520a-3p	CLIP-seq
MIRT2121414	hsa-miR-520a-5p	CLIP-seq
MIRT1404697	hsa-miR-520b	CLIP-seq
MIRT1404698	hsa-miR-520c-3p	CLIP-seq
MIRT1404699	hsa-miR-520d-3p	CLIP-seq
MIRT1404700	hsa-miR-520e	CLIP-seq
MIRT2121415	hsa-miR-525-5p	CLIP-seq
MIRT2121416	hsa-miR-766	CLIP-seq
MIRT2121412	hsa-miR-3925-3p	CLIP-seq
MIRT2121413	hsa-miR-515-5p	CLIP-seq
MIRT2121414	hsa-miR-520a-5p	CLIP-seq
MIRT2121415	hsa-miR-525-5p	CLIP-seq
MIRT2395445	hsa-miR-548g	CLIP-seq
MIRT2121416	hsa-miR-766	CLIP-seq
MIRT2637135	hsa-miR-1257	CLIP-seq
MIRT2637136	hsa-miR-1276	CLIP-seq
MIRT2637137	hsa-miR-1289	CLIP-seq
MIRT2637138	hsa-miR-141	CLIP-seq
MIRT2637139	hsa-miR-142-5p	CLIP-seq
MIRT2637140	hsa-miR-200a	CLIP-seq
MIRT2637141	hsa-miR-3074-3p	CLIP-seq
MIRT2637142	hsa-miR-3122	CLIP-seq
MIRT2637143	hsa-miR-3177-5p	CLIP-seq
MIRT2637144	hsa-miR-337-3p	CLIP-seq
MIRT2637145	hsa-miR-340	CLIP-seq
MIRT2637146	hsa-miR-3609	CLIP-seq
MIRT2637147	hsa-miR-3662	CLIP-seq
MIRT2637148	hsa-miR-3689a-3p	CLIP-seq
MIRT2637149	hsa-miR-3689c	CLIP-seq
MIRT2637150	hsa-miR-3913-5p	CLIP-seq
MIRT2637151	hsa-miR-3925-5p	CLIP-seq
MIRT2637152	hsa-miR-4292	CLIP-seq
MIRT2637153	hsa-miR-4308	CLIP-seq
MIRT2637154	hsa-miR-4311	CLIP-seq
MIRT2637155	hsa-miR-4446-5p	CLIP-seq
MIRT2637156	hsa-miR-452	CLIP-seq
MIRT2637157	hsa-miR-4635	CLIP-seq
MIRT2637158	hsa-miR-4676-3p	CLIP-seq
MIRT2637159	hsa-miR-4698	CLIP-seq
MIRT2637160	hsa-miR-4719	CLIP-seq
MIRT1404649	hsa-miR-4755-5p	CLIP-seq
MIRT2637161	hsa-miR-4762-5p	CLIP-seq
MIRT2637162	hsa-miR-488	CLIP-seq
MIRT2637163	hsa-miR-548ah	CLIP-seq
MIRT2637164	hsa-miR-548q	CLIP-seq
MIRT2637165	hsa-miR-583	CLIP-seq
MIRT2637166	hsa-miR-670	CLIP-seq
MIRT2692460	hsa-miR-1273f	CLIP-seq
MIRT2637136	hsa-miR-1276	CLIP-seq
MIRT2637138	hsa-miR-141	CLIP-seq
MIRT2637139	hsa-miR-142-5p	CLIP-seq
MIRT2692461	hsa-miR-143	CLIP-seq
MIRT2637140	hsa-miR-200a	CLIP-seq
MIRT2692462	hsa-miR-2467-3p	CLIP-seq
MIRT2637143	hsa-miR-3177-5p	CLIP-seq
MIRT2637145	hsa-miR-340	CLIP-seq
MIRT1404646	hsa-miR-3613-3p	CLIP-seq
MIRT2692463	hsa-miR-3674	CLIP-seq
MIRT2692464	hsa-miR-3678-3p	CLIP-seq
MIRT2637151	hsa-miR-3925-5p	CLIP-seq
MIRT2692465	hsa-miR-3935	CLIP-seq
MIRT2692466	hsa-miR-409-3p	CLIP-seq
MIRT2692467	hsa-miR-4282	CLIP-seq
MIRT2637152	hsa-miR-4292	CLIP-seq
MIRT2692468	hsa-miR-4307	CLIP-seq
MIRT2637153	hsa-miR-4308	CLIP-seq
MIRT2637154	hsa-miR-4311	CLIP-seq
MIRT2637155	hsa-miR-4446-5p	CLIP-seq
MIRT2692469	hsa-miR-4461	CLIP-seq
MIRT2637156	hsa-miR-452	CLIP-seq
MIRT2637158	hsa-miR-4676-3p	CLIP-seq
MIRT2692470	hsa-miR-4693-3p	CLIP-seq
MIRT2637159	hsa-miR-4698	CLIP-seq
MIRT2692471	hsa-miR-4708-5p	CLIP-seq
MIRT1404649	hsa-miR-4755-5p	CLIP-seq
MIRT2692472	hsa-miR-4770	CLIP-seq
MIRT2637164	hsa-miR-548q	CLIP-seq
MIRT2692473	hsa-miR-577	CLIP-seq
MIRT2637165	hsa-miR-583	CLIP-seq
MIRT2637166	hsa-miR-670	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002102	Component	Podosome	IEA
GO:0005515	Function	Protein binding	IPI	18639526
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA	21873635
GO:0005634	Component	Nucleus	IDA	12711699
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	12711699
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	12711699
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007519	Process	Skeletal muscle tissue development	IMP	12711699
GO:0008154	Process	Actin polymerization or depolymerization	IBA	21873635
GO:0015629	Component	Actin cytoskeleton	IBA	21873635
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0015629	Component	Actin cytoskeleton	NAS	9867483
GO:0030496	Component	Midbody	ISS
GO:0032154	Component	Cleavage furrow	ISS
GO:0032467	Process	Positive regulation of cytokinesis	ISS
GO:0036449	Component	Microtubule minus-end	ISS
GO:0043034	Component	Costamere	IDA	12711699
GO:0051014	Process	Actin filament severing	IBA	21873635
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	IDA	12711699
GO:0051016	Process	Barbed-end actin filament capping	IBA	21873635

MIM	HGNC	e!Ensembl
604126	11480	ENSG00000197321

Protein

UniProt ID

O95425

Protein name

Supervillin (Archvillin) (p205/p250)

Protein function

[Isoform 1]: Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation (PubMed:12711699)

PDB

2K6M , 2K6N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00626	Gelsolin	1453 → 1521	Gelsolin repeat	Domain
PF02209	VHP	2179 → 2214	Villin headpiece domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in many tissues. Most abundant in muscle, bone marrow, thyroid gland and salivary gland. Isoform 1 (archvillin) is muscle specific. {ECO:0000269|PubMed:9867483}.

Sequence

MKRKERIARRLEGIENDTQPILLQSCTGLVTHRLLEEDTPRYMRASDPASPHIGRSNEEE
ETSDSSLEKQTRSKYCTETSGVHGDSPYGSGTMDTHSLESKAERIARYKAERRRQLAEKY
GLTLDPEADSEYLSRYTKSRKEPDAVEKRGGKSDKQEESSRDASSLYPGTETMGLRTCAG
ESKDYALHVGDGSSDPEVLLNIENQRRGQELSATRQAHDLSPAAESSSTFSFSGRDSSFT
EVPRSPKHAHSSSLQQAASRSPSFGDPQLSPEARPSTGKPKHEWFLQKDSEGDTPSLINW
PSRVKVREKLVKEESARNSPELASESVTQRRHQPAPVHYVSFQSEHSAFDRVPSKAAGST
RQPIRGYVQPADTGHTAKLVTPETPENASECSWVASATQNVPKPPSLTVLEGDGRDSPVL
HVCESKAEEEEGEGEGEEKEEDVCFTEALEQSKKTLLALEGDGLVRSPEDPSRNEDFGKP
AVSTVTLEHQKELENVAQPPQAPHQPTERTGRSEMVLYIQSEPVSQDAKPTGHNREASKK
RKVRTRSLSDFTGPPQLQALKYKDPASRRELELPSSKTEGPYGEISMLDTKVSVAQLRSA
FLASANACRRPELKSRVERSAEGPGLPTGVERERGSRKPRRYFSPGESRKTSERFRTQPI
TSAERKESDRCTSHSETPTVDDEEKVDERAKLSVAAKRLLFREMEKSFDEQNVPKRRSRN
TAVEQRLRRLQDRSLTQPITTEEVVIAATEPIPASCSGGTHPVMARLPSPTVARSAVQPA
RLQASAHQKALAKDQTNEGKELAEQGEPDSSTLSLAEKLALFNKLSQPVSKAISTRNRID
TRQRRMNARYQTQPVTLGEVEQVQSGKLIPFSPAVNTSVSTVASTVAPMYAGDLRTKPPL
DHNASATDYKFSSSIENSDSPVRSILKSQAWQPLVEGSENKGMLREYGETESKRALTGRD
SGMEKYGSFEEAEASYPILNRAREGDSHKESKYAVPRRGSLERANPPITHLGDEPKEFSM
AKMNAQGNLDLRDRLPFEEKVEVENVMKRKFSLRAAEFGEPTSEQTGTAAGKTIAQTTAP
VSWKPQDSSEQPQEKLCKNPCAMFAAGEIKTPTGEGLLDSPSKTMSIKERLALLKKSGEE
DWRNRLSRRQEGGKAPASSLHTQEAGRSLIKKRVTESRESQMTIEERKQLITVREEAWKT
RGRGAANDSTQFTVAGRMVKKGLASPTAITPVASPICGKTRGTTPVSKPLEDIEARPDMQ
LESDLKLDRLETFLRRLNNKVGGMHETVLTVTGKSVKEVMKPDDDETFAKFYRSVDYNMP
RSPVEMDEDFDVIFDPYAPKLTSSVAEHKRAVRPKRRVQASKNPLKMLAAREDLLQEYTE
QRLNVAFMESKRMKVEKMSSNSNFSEVTLAGLASKENFSNVSLRSVNLTEQNSNNSAVPY
KRLMLLQIKGRRHVQTRLVEPRASALNSGDCFLLLSPHCCFLWVGEFANVIEKAKASELA
TLIQTKRELGCRATYIQTIEEGINTHTHAAKDFWKLLGGQTSYQSAGDPKEDELYEAAII
ETNCIYRLMDDKLVPDDDYWGKIPKCSLLQPKEVLVFDFGSEVYVWHGKEVTLAQRKIAF
QLAKHLWNGTFDYENCDINPLDPGECNPLIPRKGQGRPDWAIFGRLTEHNETILFKEKFL
DWTELKRSNEKNPGELAQHKEDPRTDVKAYDVTRMVSMPQTTAGTILDGVNVGRGYGLVE
GHDRRQFEITSVSVDVWHILEFDYSRLPKQSIGQFHEGDAYVVKWKFMVSTAVGSRQKGE
HSVRAAGKEKCVYFFWQGRHSTVSEKGTSALMTVELDEERGAQVQVLQGKEPPCFLQCFQ
GGMVVHSGRREEEEENVQSEWRLYCVRGEVPVEGNLLEVACHCSSLRSRTSMVVLNVNKA
LIYLWHGCKAQAHTKEVGRTAANKIKEQCPLEAGLHSSSKVTIHECDEGSEPLGFWDALG
RRDRKAYDCMLQDPGSFNFAPRLFILSSSSGDFAATEFVYPARAPSVVSSMPFLQEDLYS
APQPALFLVDNHHEVYLWQGWWPIENKITGSARIRWASDRKSAMETVLQYCKGKNLKKPA
PKSYLIHAGLEPLTFTNMFPSWEHREDIAEITEMDTEVSNQITLVEDVLAKLCKTIYPLA
DLLARPLPEGVDPLKLEIYLTDEDFEFALDMTRDEYNALPAWKQVNLKKAKGLF

Sequence length

2214

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959, 17330099
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287	28580392

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Evidence	Source
Unknown
Myofibrillar myopathy	myofibrillar myopathy 10		GenCC
Migraine with Aura	Migraine with Aura		GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Fibromuscular Dysplasia	Fibromuscular Dysplasia		GWAS
Diverticulitis	Diverticulitis		GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Aortic Dissection	Associate	34837083
Leukopenia	Associate	32683206
Muscular Diseases	Associate	32779703
Neoplasms	Inhibit	23382381
Neoplasms	Associate	37670039
Neutropenia	Associate	32683206
Pulmonary Disease Chronic Obstructive	Associate	29799805, 34588774
Urinary Bladder Neoplasms	Associate	37670039

SVIL (supervillin)