CC2D1B (coiled-coil and C2 domain containing 1B)

2014-11-01  

Identity

HGNC
CC2D1B
LOCATION
1p32.3
LOCUSID
200014
ALIAS
Lgd1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 200014
HGNC: 29386
Ensembl: ENSG00000154222

Variants:

dbSNP: 200014
ClinVar: 200014
TCGA: ENSG00000154222
COSMIC: CC2D1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154222ENST00000284376Q5T0F9
ENSG00000154222ENST00000371586Q5T0F9
ENSG00000154222ENST00000438021H0Y517
ENSG00000154222ENST00000450942H7C1U3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
170843582006The Drosophila Notch inhibitor and tumor suppressor gene lethal (2) giant discs encodes a conserved regulator of endosomal trafficking.51
194230802009Human Freud-2/CC2D1B: a novel repressor of postsynaptic serotonin-1A receptor expression.17
305133012018CC2D1B Coordinates ESCRT-III Activity during the Mitotic Reformation of the Nuclear Envelope.8
277698582016CC2D1A and CC2D1B regulate degradation and signaling of EGFR and TLR4.3

Citation

Dessen P

CC2D1B (coiled-coil and C2 domain containing 1B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61455/cc2d1b