CC2D1A

Chr 19

coiled-coil and C2 domain containing 1A

Also known as: Aki-1, FREUD-1, Freud-1/Aki1, Lgd2, MRT3, TAPE

NCBI Gene: 54862 ENSG00000132024 UniProt: Q6P1N0

The protein functions as a calcium-inhibited transcriptional repressor that binds to regulatory sequences and controls expression of the serotonin receptor 1A gene in neurons. Mutations cause autosomal recessive intellectual developmental disorder (MRT3), a nonsyndromic form of cognitive disability. The pathogenic mechanism involves loss of normal transcriptional regulation of serotonergic signaling pathways.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 3

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.42

LOEUF

LOF

Mechanism· G2P

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GeneReview available — CC2D1A