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Gene : CC2D1A Homo sapiens

Name  ? coiled-coil and C2 domain containing 1A Cytological Location  19p13.12
Brief Description  coiled-coil and C2 domain containing 1A
Description  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]
  • synonyms:
  • CC2D1A,
  • uc002mxo.3,
  • NM_017721,
  • Freud-1/Aki1,
  • Freud-1,
  • FREUD-1,
  • HGNC:30237,
  • AF536205,
  • mental retardation, nonsyndromic, autosomal recessive, 3,
  • OTTHUMG00000181852,
  • FLJ20241,
  • MRT3,
  • MRT3
  • identifiers:
  • 54862,
  • ENSG00000132024,
  • CC2D1A

Genome feature

Region: gene ? Length: 24731  
Location: 19:13906149-13930879 Cyto location: 19p13.12

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

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Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

534 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results