Entity Details

Primary name SVBP
Entity type gene
Source Source Link

Details

PrimaryID374969
RefseqGene
SymbolSVBP
Namesmall vasohibin binding protein
Chromosome1
Location1p34.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2003-09-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSVBP_HUMAN

GO terms

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GOName
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0006508 proteolysis
GO:0008017 microtubule binding
GO:0009306 protein secretion
GO:0010596 negative regulation of endothelial cell migration
GO:0031397 negative regulation of protein ubiquitination
GO:0045177 apical part of cell
GO:0061564 axon development
GO:1905048 regulation of metallopeptidase activity

Diseases

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Disease IDSourceNameDescription
618569 OMIMNeurodevelopmental disorder with ataxia, hypotonia, and microcephaly (NEDAHM)An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
SVBPVASH1BioGRID, DIP20736312 31235910 31270470 details