Entity Details

Primary name C1QTNF5
Entity type gene
Source Source Link

Details

PrimaryID114902
RefseqGeneNG_012235
SymbolC1QTNF5
NameC1q and TNF related 5
Chromosome11
Location11q23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-10-02
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsC1QT5_HUMAN

GO terms

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GOName
GO:0005581 collagen trimer
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0042995 cell projection

Diseases

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Disease IDSourceNameDescription
605670 OMIMLate-onset retinal degeneration (LORD)Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions