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GeneQ18043134· pop 5· linked from 63 articles

CC2D2A

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Also 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

Pathways

Organelle biogenesis and maintenanceCilium AssemblyAnchoring of the basal body to the plasma membraneAssembly of the 9+0 primary ciliumGenes related to primary cilium development (based on CRISPR)Joubert SyndromeCiliopathies

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
View on Ensembl →

via Ensembl · EMBL-EBI

~1 min read

Encyclopedic overview

5 sections
Contents
  • 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.

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via Wikidata sitelinks · CC0