Entity Details

Primary name CHN1
Entity type gene
Source Source Link

Details

PrimaryID1123
RefseqGeneNG_012642
SymbolCHN1
Namechimerin 1
Chromosome2
Location2q31.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCHIN_HUMAN

GO terms

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GOName
GO:0005096 GTPase activator activity
GO:0005829 cytosol
GO:0008045 motor neuron axon guidance
GO:0035556 intracellular signal transduction
GO:0043087 regulation of GTPase activity
GO:0046872 metal ion binding
GO:0046875 ephrin receptor binding
GO:0048013 ephrin receptor signaling pathway
GO:0050770 regulation of axonogenesis
GO:0051056 regulation of small GTPase mediated signal transduction

Diseases

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Disease IDSourceNameDescription
604356 OMIMDuane retraction syndrome 2 (DURS2)A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. The disease is caused by variants affecting the gene represented in this entry.