CC2D2A (coiled-coil and C2 domain containing 2A)

2014-11-01  

Identity

HGNC
CC2D2A
LOCATION
4p15.32
LOCUSID
57545
ALIAS
COACH2,JBTS9,MKS6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57545
MIM: 612013
HGNC: 29253
Ensembl: ENSG00000048342

Variants:

dbSNP: 57545
ClinVar: 57545
TCGA: ENSG00000048342
COSMIC: CC2D2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000048342ENST00000389652A0A140T8Y7
ENSG00000048342ENST00000424120Q9P2K1
ENSG00000048342ENST00000438599Q9P2K1
ENSG00000048342ENST00000503292Q9P2K1
ENSG00000048342ENST00000503658Q9P2K1
ENSG00000048342ENST00000506643H0Y941
ENSG00000048342ENST00000507954Q9P2K1
ENSG00000048342ENST00000511544A0A0M3HER0
ENSG00000048342ENST00000512702D6R9V3
ENSG00000048342ENST00000514039A0A0J9YXT3
ENSG00000048342ENST00000515124Q9P2K1
ENSG00000048342ENST00000634028A0A0J9YY35
ENSG00000048342ENST00000650860A0A494C0X1
ENSG00000048342ENST00000651385A0A494C1C5

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
363190782023New insights into CC2D2A-related Joubert syndrome.2
371075682023Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.0
363190782023New insights into CC2D2A-related Joubert syndrome.2
371075682023Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.0
327471922021Primary cilia biogenesis and associated retinal ciliopathies.41
329898872021Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.2
334868892021Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.6
327471922021Primary cilia biogenesis and associated retinal ciliopathies.41
329898872021Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.2
334868892021Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.6
315775432020Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.3
315775432020Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.3
302674082019Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.10
302674082019Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.10
283749382017Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.3

Citation

Dessen P

CC2D2A (coiled-coil and C2 domain containing 2A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61456