CC2D1A coiled-coil and C2 domain containing 1A

Gene ID: 54862, updated on 11-Apr-2024
Gene type: protein coding
Also known as: Lgd2; MRT3; TAPE; Aki-1; FREUD-1; Freud-1/Aki1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Intellectual disability, autosomal recessive 3 MedGen: C1838023OMIM: 608443GeneReviews: Not available	See labs

Genomic context

Location:: 19p13.12

Sequence:: Chromosome: 19; NC_000019.10 (13906201..13930879)

Total number of exons:: 29

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CC2D1A variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CC2D1A @ LOVD
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.