CD2BP2 (CD2 cytoplasmic tail binding protein 2)

2014-11-01  

Identity

HGNC
CD2BP2
LOCATION
16p11.2
LOCUSID
10421
ALIAS
FWP010,LIN1,PPP1R59,Snu40,U5-52K
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10421
MIM: 604470
HGNC: 1656
Ensembl: ENSG00000169217

Variants:

dbSNP: 10421
ClinVar: 10421
TCGA: ENSG00000169217
COSMIC: CD2BP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169217ENST00000305596O95400
ENSG00000169217ENST00000305596A0A024QZC1
ENSG00000169217ENST00000569466O95400
ENSG00000169217ENST00000569466A0A024QZC1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

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
124263712002Dynamic interaction of CD2 with the GYF and the SH3 domain of compartmentalized effector molecules.15
151054312004Recognition sequences for the GYF domain reveal a possible spliceosomal function of CD2BP2.14
158408142005The human U5 snRNP 52K protein (CD2BP2) interacts with U5-102K (hPrp6), a U4/U6.U5 tri-snRNP bridging protein, but dissociates upon tri-snRNP formation.14
179063342007Investigating the functional role of CD2BP2 in T cells.5
281803202017TEG-1 CD2BP2 controls miRNA levels by regulating miRISC stability in C. elegans and human cells.3

Citation

Dessen P

CD2BP2 (CD2 cytoplasmic tail binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61618/cd2bp2