Gene

svild

ID

ZDB-GENE-081104-483

Name

supervillin d

Symbol

svild Nomenclature History

Previous Names

si:dkeyp-94b4.1 (1)

Type

protein_coding_gene

Location

Chr: 12 Mapping Details/Browsers

Description

Predicted to enable actin filament binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in actin filament severing; actin polymerization or depolymerization; and barbed-end actin filament capping. Predicted to act upstream of or within cytoskeleton organization. Predicted to be located in cytoskeleton and membrane. Predicted to be active in actin cytoskeleton and cytoplasm. Is expressed in macula. Human ortholog(s) of this gene implicated in myofibrillar myopathy 10. Orthologous to human SVIL (supervillin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Pollock et al., 2016

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With svild Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
myofibrillar myopathy 10	Alliance	Myofibrillar myopathy 10	619040

Associated With svild Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003128	Villin headpiece
Domain	IPR007123	Gelsolin-like domain
Family	IPR007122	Villin/Gelsolin
Homologous_superfamily	IPR029006	ADF-H/Gelsolin-like domain superfamily
Homologous_superfamily	IPR036886	Villin headpiece domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M9PWX9	InterPro	1316
UniProtKB:A0A8M3B4H9	InterPro	1460
UniProtKB:A0A0R4ICW1	InterPro	1459

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	si:dkeyp-94b4.1-201 (1) Ensembl	Ensembl	3,275 nt	Select Tool ZFIN BLAST
mRNA	si:dkeyp-94b4.1-203 (1) Ensembl	Ensembl	908 nt	Select Tool ZFIN BLAST
mRNA	svild-202 (1) Ensembl	Ensembl	5,596 nt	Select Tool ZFIN BLAST
mRNA	svild-204 (1) Ensembl	Ensembl	8,702 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations