CC2D2A
Sign in to saveAlso known as JBTS9, MKS6, coiled-coil and C2 domain containing 2A, COACH2, RP93
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.
Gene data
CC2D2A- Name
- coiled-coil and C2 domain containing 2A
- Type
- protein-coding
- Position
- 15,469,865–15,602,097 (+)
- Aliases
- COACH2, JBTS9, MKS6, RP93
- Ensembl
- ENSG00000048342
- RefSeq RNA
- NM_001080522.2, NM_001164720.3, NM_001378615.1, NM_001378617.1, NM_020785.2
- RefSeq protein
- NP_001073991.2, NP_001158192.1, NP_001365544.1, NP_001365546.1, NP_065836.2
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
Gene Ontology
Biological process
Pathways
via MyGene.info
Gene · Ensembl
coiled-coil and C2 domain containing 2A
- Symbol
- CC2D2A
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 4:15,469,865-15,602,097
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 18159
- genetic association
- COACH Syndrome
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/57545
- chromosome
- human chromosome 4
- genomic start
- 15471489
- genomic end
- 15601552
- cytogenetic location
- 4p15.32
- expressed in
- popliteal artery
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- External links
- Further reading
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.
==Function ==
Excerpted from Wikipedia’s “CC2D2A” article, available under the CC BY-SA 4.0 licence.