RHBDD3 (rhomboid domain containing 3)

2016-10-01  

Identity

HGNC
RHBDD3
LOCATION
22q12.2
LOCUSID
25807
ALIAS
C22orf3,HS984G1A,PTAG
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25807
HGNC: 1308
Ensembl: ENSG00000100263

Variants:

dbSNP: 25807
ClinVar: 25807
TCGA: ENSG00000100263
COSMIC: RHBDD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100263ENST00000216085Q9Y3P4
ENSG00000100263ENST00000216085A0A024R1J2
ENSG00000100263ENST00000406335B0QYJ2
ENSG00000100263ENST00000413137F8WFA9
ENSG00000100263ENST00000414672B0QYJ1

Expression (GTEx)

0
10
20
30
40
50
60
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
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
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.95
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.95
192126222009Bidirectionality and transcriptional activity of the EWSR1 promoter region.3
192126222009Bidirectionality and transcriptional activity of the EWSR1 promoter region.3
171174132007Primary colorectal tumors fail to express the proapoptotic mediator PTAG and its reexpression augments drug-induced apoptosis.1
171174132007Primary colorectal tumors fail to express the proapoptotic mediator PTAG and its reexpression augments drug-induced apoptosis.1
151054372004Isolation and characterization of a novel pituitary tumor apoptosis gene.10
151054372004Isolation and characterization of a novel pituitary tumor apoptosis gene.10

Citation

Dessen P

RHBDD3 (rhomboid domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56589/rhbdd3-(rhomboid-domain-containing-3)