RHBDF2 (rhomboid 5 homolog 2)

2012-08-01  

Identity

HGNC
RHBDF2
LOCATION
17q25.1
LOCUSID
79651
ALIAS
RHBDL5,RHBDL6,TEC,TOC,TOCG,iRhom2

Other Information

Locus ID:

NCBI: 79651
MIM: 614404
HGNC: 20788
Ensembl: ENSG00000129667

Variants:

dbSNP: 79651
ClinVar: 79651
TCGA: ENSG00000129667
COSMIC: RHBDF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129667ENST00000313080Q6PJF5
ENSG00000129667ENST00000585701K7EQT5
ENSG00000129667ENST00000585989K7EKI1
ENSG00000129667ENST00000589526K7EQ53
ENSG00000129667ENST00000590288K7ELA9
ENSG00000129667ENST00000590322K7EJ10
ENSG00000129667ENST00000591192K7EQT5
ENSG00000129667ENST00000591255K7EJD6
ENSG00000129667ENST00000591697K7EIY3
ENSG00000129667ENST00000591860K7EPN8
ENSG00000129667ENST00000591879K7EKA3
ENSG00000129667ENST00000591885Q6PJF5
ENSG00000129667ENST00000592123K7EPV3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD21622719
PA449599fentanylChemicalClinicalAnnotationassociatedPD21622719
PA450550morphineChemicalClinicalAnnotationassociatedPD21622719
PA450741oxycodoneChemicalClinicalAnnotationassociatedPD21622719
PA452618opioidsChemicalClinicalAnnotationassociatedPD21622719

References

Pubmed IDYearTitleCitations
251290752014Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci.237
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
222650162012RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.46
246432772014iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.30
265350072015Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17.18
226387702012Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.16
223446712012Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
291558782017iRhom2 is essential for innate immunity to RNA virus by antagonizing ER- and mitochondria-associated degradation of VISA.11
298973362018FRMD8 promotes inflammatory and growth factor signalling by stabilising the iRhom/ADAM17 sheddase complex.8

Citation

Dessen P

RHBDF2 (rhomboid 5 homolog 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52834/rhbdf2