CC2D2A |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CC2D2A (HGNC:29253) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- coiled-coil and C2 domain containing 2A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA1345, MKS6, JBTS9
- %HI
- 79.39(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.86(Read more about gnomAD LOEUF score)
- Cytoband
- 4p15.32
- Genomic Coordinates
-
GRCh37/hg19: chr4:15471489-15603180 NCBI Ensembl UCSC GRCh38/hg38: chr4:15469865-15601557 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001378615.1 ENST00000424120.6 (Read more about MANE Select)
- Function
- Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). {ECO:0000250, ECO:0000269|PubMed:18513680}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28806
ClinGen Curation ID:
CCID:006797
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/17/2013
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Joubert syndrome and related disorders Monarch
HI Evidence Comments:
Variants in CC2D2A have been associated with Meckel syndrome type 6, Joubert syndrome type 9, and COACH syndrome. These diseases have significant phenotypic overlap, so the term Joubert syndrome and related disorders has been selected for this curation.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000004.11)
(NC_000004.12)