Entity Details

Primary name FRMD7
Entity type gene
Source Source Link

Details

PrimaryID90167
RefseqGeneNG_012347
SymbolFRMD7
NameFERM domain containing 7
ChromosomeX
LocationXq26.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-07-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFRMD7_HUMAN

GO terms

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GOName
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0007399 nervous system development
GO:0010592 positive regulation of lamellipodium assembly
GO:0010975 regulation of neuron projection development
GO:0030426 growth cone
GO:0032091 negative regulation of protein binding
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0051057 positive regulation of small GTPase mediated signal transduction
GO:0051497 negative regulation of stress fiber assembly

Diseases

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Disease IDSourceNameDescription
310700 OMIMNystagmus congenital X-linked 1 (NYS1)A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
FRMD7CLNS1ABioGRID, IntAct32296183 details
FRMD7CASKBioGRID23406872 details
FRMD7NRASBioGRID30639242 details