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Gene: CC2D1A (coiled-coil and C2 domain containing 1A) Homo sapiens
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Symbol: CC2D1A
Name: coiled-coil and C2 domain containing 1A
Description: Exhibits cadherin binding activity. Involved in positive regulation of I-kappaB kinase/NF-kappaB signaling. Localizes to the cytosol; fibrillar center; and plasma membrane. Implicated in autosomal recessive non-syndromic intellectual disability and intellectual disability.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Akt kinase-interacting protein 1; coiled-coil and C2 domain-containing protein 1A; five prime repressor element under dual repression-binding protein 1; five repressor element under dual repression-binding protein 1; FLJ20241; FLJ41160; FRE under dual repression-binding protein 1; FREUD-1; Freud-1/Aki1; mental retardation, nonsyndromic, autosomal recessive, 3; MRT3; putative NF-kappa-B-activating protein 023N; putative NFkB activating protein
Orthologs:
Mus musculus (house mouse) : Cc2d1a (coiled-coil and C2 domain containing 1A)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cc2d1a (coiled-coil and C2 domain containing 1A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cc2d1a (coiled-coil and C2 domain containing 1A)
Pan paniscus (bonobo/pygmy chimpanzee) : CC2D1A (coiled-coil and C2 domain containing 1A)
Canis lupus familiaris (dog) : CC2D1A (coiled-coil and C2 domain containing 1A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cc2d1a (coiled-coil and C2 domain containing 1A)
Sus scrofa (pig) : CC2D1A (coiled-coil and C2 domain containing 1A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381913,906,149 - 13,930,879 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371914,016,956 - 14,041,693 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361913,878,052 - 13,902,692 (+)NCBINCBI36hg18NCBI36
Celera1913,910,701 - 13,935,438 (+)NCBI
Cytogenetic Map19p13.12NCBI
HuRef1913,588,253 - 13,612,989 (+)NCBIHuRef
CHM1_11914,017,664 - 14,042,297 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on CC2D1A
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1606546
Created: 2007-04-29
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.