CC2D2B (coiled-coil and C2 domain containing 2B)

2014-11-01  

Identity

HGNC
CC2D2B
LOCATION
10q24.1
LOCUSID
387707
ALIAS
C10orf130,C10orf131

Other Information

Locus ID:

NCBI: 387707
HGNC: 31666
Ensembl: ENSG00000188649

Variants:

dbSNP: 387707
ClinVar: 387707
TCGA: ENSG00000188649
COSMIC: CC2D2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188649ENST00000344386Q6DHV5
ENSG00000188649ENST00000410012Q6DHV5
ENSG00000188649ENST00000423344Q6DHV5
ENSG00000188649ENST00000424464B7ZBX6
ENSG00000188649ENST00000472454A0A1W2PQR2
ENSG00000188649ENST00000475252A0A1B0GUL2
ENSG00000188649ENST00000602648R4GN90
ENSG00000188649ENST00000618242A0A087WWB2
ENSG00000188649ENST00000636965Q6DHV5
ENSG00000188649ENST00000646931A0A2R8Y8B5

Expression (GTEx)

0
1
2
3
4
5
6
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

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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69

Citation

Dessen P

CC2D2B (coiled-coil and C2 domain containing 2B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61457/cc2d2b-(coiled-coil-and-c2-domain-containing-2b)