RHBDL2 (rhomboid like 2)

2014-11-01  

Identity

HGNC
RHBDL2
LOCATION
1p34.3
LOCUSID
54933
ALIAS
RRP2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54933
MIM: 608962
HGNC: 16083
Ensembl: ENSG00000158315

Variants:

dbSNP: 54933
ClinVar: 54933
TCGA: ENSG00000158315
COSMIC: RHBDL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158315ENST00000289248Q9NX52
ENSG00000158315ENST00000372990Q9NX52
ENSG00000158315ENST00000540558Q9NX52

Expression (GTEx)

0
5
10
15
20
25
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
128209572003Substrate specificity of rhomboid intramembrane proteases is governed by helix-breaking residues in the substrate transmembrane domain.86
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.46
214942482011Mammalian EGF receptor activation by the rhomboid protease RHBDL2.35
150471752004Intramembrane cleavage of ephrinB3 by the human rhomboid family protease, RHBDL2.26
218330112011Functions of rhomboid family protease RHBDL2 and thrombomodulin in wound healing.15
198500512009The processing of human rhomboid intramembrane serine protease RHBDL2 is required for its proteolytic activity.3

Citation

Dessen P

RHBDL2 (rhomboid like 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72625/rhbdl2