• 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
0.78(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
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)