CCM2L (CCM2 like scaffold protein)

2014-11-01  

Identity

HGNC
CCM2L
LOCATION
20q11.21
LOCUSID
140706
ALIAS
C20orf160,dJ310O13.5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 140706
HGNC: 16153
Ensembl: ENSG00000101331

Variants:

dbSNP: 140706
ClinVar: 140706
TCGA: ENSG00000101331
COSMIC: CCM2L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101331ENST00000262659Q9NUG4
ENSG00000101331ENST00000452892Q9NUG4
ENSG00000101331ENST00000452892Q5JYR8

Expression (GTEx)

0
50
100
150
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
N/A

References

Pubmed IDYearTitleCitations
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37

Citation

Dessen P

CCM2L (CCM2 like scaffold protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61592/ccm2l-(ccm2-like-scaffold-protein)