Coiled-Coil and C2 Domains-Containing Protein 1A

Alternative Names

  • CC2D1A
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OMIM Number

610055

NCBI Gene ID

54862

Uniprot ID

Q6P1N0

Length

24,679 bases

No. of Exons

29

No. of isoforms

2

Protein Name

Coiled-coil and C2 domain-containing protein 1A

Molecular Mass

104062 Da

Amino Acid Count

951

Genomic Location

chr19:13,906,201-13,930,879

Gene Map Locus
19p13.12

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. [From OMIM]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017721.5:c.2693delEgyptNC_000019.10:g.13929643delPathogenicPathogenicIntellectual Developmental Disorder, Autosomal Recessive 3NG_013089.1:g.28501del; NM_017721.5:c.2693del; NP_060191.3:p.Gly898ValfsTer451423002835984700
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