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GPATCH3

Chr 1p36.11

G-patch domain containing 3

Aliases:
FLJ12455
MANE:
ENST00000361720.10

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • COVID-19 research

    Unknown

Disease associations (Open Targets)

  • neurodegenerative disease

    0.27
  • coronary atherosclerosis

    0.10
  • gout

    0.09
  • Familial exudative vitreoretinopathy

    0.06
  • Isolated anophthalmia - microphthalmia

    0.06
  • microphthalmia

    0.06
  • nanophthalmia

    0.05
  • congenital primary aphakia

    0.05
  • persistent hyperplastic primary vitreous

    0.05
  • retinitis pigmentosa

    0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

G patch domain-containing protein 3

Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development (PubMed:28397860). Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6 (PubMed:28414768)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.