ARID3C

Chr 9

AT-rich interaction domain 3C

NCBI Gene: 138715 ENSG00000205143 UniProt: A6NKF2 OMIM: 620868

The protein functions as a transcription factor that promotes monocyte-to-macrophage differentiation by forming a complex with NPM1 and activating genes like STAT3, STAT1, and JUNB. Mutations cause autosomal recessive severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation. The gene is highly constrained against loss-of-function variation, indicating that complete loss of function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.40

LOEUF

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Mechanism