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Gene: CC2D2A (coiled-coil and C2 domain containing 2A) Homo sapiens
Symbol: CC2D2A
Name: coiled-coil and C2 domain containing 2A
Description: Predicted to be involved in cilium assembly; kidney development; and smoothened signaling pathway. Predicted to localize to MKS complex. Implicated in COACH syndrome; Joubert syndrome 9; Meckel syndrome 6; and intellectual disability.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: coiled-coil and C2 domain-containing protein 2A; JBTS9; KIAA1345; MKS6
Mus musculus (house mouse) : Cc2d2a (coiled-coil and C2 domain containing 2A)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cc2d2a (coiled-coil and C2 domain containing 2A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cc2d2a (coiled-coil and C2 domain containing 2A)
Pan paniscus (bonobo/pygmy chimpanzee) : CC2D2A (coiled-coil and C2 domain containing 2A)
Canis lupus familiaris (dog) : CC2D2A (coiled-coil and C2 domain containing 2A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cc2d2a (coiled-coil and C2 domain containing 2A)
Sus scrofa (pig) : CC2D2A (coiled-coil and C2 domain containing 2A)
Chlorocebus sabaeus (African green monkey) : CC2D2A (coiled-coil and C2 domain containing 2A)
Heterocephalus glaber (naked mole-rat) : Cc2d2a (coiled-coil and C2 domain containing 2A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl415,469,865 - 15,601,557 (+)EnsemblGRCh38hg38GRCh38
GRCh38415,468,660 - 15,601,557 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37415,471,489 - 15,603,594 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36415,080,760 - 15,212,278 (+)NCBINCBI36hg18NCBI36
Celera415,935,348 - 16,067,126 (+)NCBI
Cytogenetic Map4p15.32NCBI
HuRef414,821,757 - 14,953,476 (+)NCBIHuRef
CHM1_1415,469,435 - 15,601,127 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

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


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on CC2D2A
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 2289739
Created: 2008-02-08
Species: Homo sapiens
Last Modified: 2020-06-18
Status: ACTIVE


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