EHBP1 (EH domain binding protein 1)

2014-08-01  

Identity

HGNC
EHBP1
LOCATION
2p15
LOCUSID
23301
ALIAS
HPC12,NACSIN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23301
MIM: 609922
HGNC: 29144
Ensembl: ENSG00000115504

Variants:

dbSNP: 23301
ClinVar: 23301
TCGA: ENSG00000115504
COSMIC: EHBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115504ENST00000263991Q8NDI1
ENSG00000115504ENST00000405015Q8NDI1
ENSG00000115504ENST00000405289Q8NDI1
ENSG00000115504ENST00000405289A0A140VK17
ENSG00000115504ENST00000405482B5MC86
ENSG00000115504ENST00000413434C9IYU2
ENSG00000115504ENST00000422032H7BZ98
ENSG00000115504ENST00000426940C9J268
ENSG00000115504ENST00000427809C9JEP1
ENSG00000115504ENST00000431489Q8NDI1
ENSG00000115504ENST00000444311H7C1E6
ENSG00000115504ENST00000449820C9K0H9
ENSG00000115504ENST00000454124H7C0Q4

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
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
146762052004EHD2 and the novel EH domain binding protein EHBP1 couple endocytosis to the actin cytoskeleton.64
193184322009Generalizability of associations from prostate cancer genome-wide association studies in multiple populations.60
210715402011Validation of genome-wide prostate cancer associations in men of African descent.51
199024742010Replication of prostate cancer risk loci on 8q24, 11q13, 17q12, 19q33, and Xp11 in African Americans.39
199009422009Prognostic significance of prostate cancer susceptibility variants on prostate-specific antigen recurrence after radical prostatectomy.38
195498072009Prostate cancer risk associated loci in African Americans.37
204604802010Susceptibility loci associated with prostate cancer progression and mortality.30
198664732010Association of 17 prostate cancer susceptibility loci with prostate cancer risk in Chinese men.28
206901392011Meta-analysis of genome-wide and replication association studies on prostate cancer.24
208789502011Inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for prostate cancer.20

Citation

Dessen P

EHBP1 (EH domain binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54276/ehbp1-(eh-domain-binding-protein-1)