RHBDD2 (rhomboid domain containing 2)

2010-01-01  

Identity

HGNC
RHBDD2
LOCATION
7q11.23
LOCUSID
57414
ALIAS
NPD007,RHBDL7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57414
MIM: 615203
HGNC: 23082
Ensembl: ENSG00000005486

Variants:

dbSNP: 57414
ClinVar: 57414
TCGA: ENSG00000005486
COSMIC: RHBDD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005486ENST00000006777Q6NTF9
ENSG00000005486ENST00000318622Q6NTF9
ENSG00000005486ENST00000428119Q6NTF9
ENSG00000005486ENST00000454791Q9UDT1

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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
196166222009Rhomboid domain containing 2 (RHBDD2): a novel cancer-related gene over-expressed in breast cancer.12
229658802012RHBDD2: a 5-fluorouracil responsive gene overexpressed in the advanced stages of colorectal cancer.7
240783842014Identification of signaling pathways modulated by RHBDD2 in breast cancer cells: a link to the unfolded protein response.3
241859652014Rhomboid family gene expression profiling in breast normal tissue and tumor samples.3
233866082013Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa.2
299011662018Alternative splicing variant of RHBDD2 is associated with cell stress response and breast cancer progression.1

Citation

Dessen P

RHBDD2 (rhomboid domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51308/rhbdd2