RHPN2 (rhophilin Rho GTPase binding protein 2)

2014-08-01  

Identity

HGNC
RHPN2
LOCATION
19q13.11
LOCUSID
85415
ALIAS
P76RBE,RHOBP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 85415
MIM: 617932
HGNC: 19974
Ensembl: ENSG00000131941

Variants:

dbSNP: 85415
ClinVar: 85415
TCGA: ENSG00000131941
COSMIC: RHPN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131941ENST00000254260Q8IUC4
ENSG00000131941ENST00000588388K7EL35

Expression (GTEx)

0
5
10
15
20
25
30
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
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate Rhotekin and RhophilinsREACTOMER-HSA-5666185

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
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
190116312008Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.258
206594712010Genetic heterogeneity in colorectal cancer associations between African and European americans.40
210715392011Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations.39
205304762010Risk of genome-wide association study-identified genetic variants for colorectal cancer in a Chinese population.34
206480122010Association studies on 11 published colorectal cancer risk loci.34
122210772002The RhoA-binding protein, rhophilin-2, regulates actin cytoskeleton organization.32
237742172013RHPN2 drives mesenchymal transformation in malignant glioma by triggering RhoA activation.23
206389352010Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype.19
204370582010The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.15
205017572010Low-penetrance susceptibility variants in familial colorectal cancer.10

Citation

Dessen P

RHPN2 (rhophilin Rho GTPase binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54582/rhpn2