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
- Aliases
- COACH2, JBTS9, MKS6, RP93
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].
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
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 18159
- exact match
- identifiers.org/ncbigene/57545
- genomic start
- 15471489
- genomic end
- 15601552
- cytogenetic location
- 4p15.32
via Wikidata · CC0
~1 min read
Article
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 ==
Connections
Q180686
Entity
cilium
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human chromosome 4
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Ensembl genome database project
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protein
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Wikidata
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gene
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chromosome
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public domain
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digital object identifier
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nucleus
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cytoplasm
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bibcode
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human genome
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Q229883
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base pair
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locus
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gene expression
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Online Mendelian Inheritance in Man
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United States National Library of Medicine
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