RHBDL3 (rhomboid like 3)

2014-11-01  

Identity

HGNC
RHBDL3
LOCATION
17q11.2
LOCUSID
162494
ALIAS
RHBDL4,VRHO
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 162494
HGNC: 16502
Ensembl: ENSG00000141314

Variants:

dbSNP: 162494
ClinVar: 162494
TCGA: ENSG00000141314
COSMIC: RHBDL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141314ENST00000269051P58872
ENSG00000141314ENST00000431505A4FU16
ENSG00000141314ENST00000536287P58872
ENSG00000141314ENST00000538145P58872
ENSG00000141314ENST00000578006J3QQX4

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
N/A

References

Pubmed IDYearTitleCitations
354364692022The mammalian rhomboid protein RHBDL4 protects against endoplasmic reticulum stress by regulating the morphology and distribution of ER sheets.3
354364692022The mammalian rhomboid protein RHBDL4 protects against endoplasmic reticulum stress by regulating the morphology and distribution of ER sheets.3

Citation

Dessen P

RHBDL3 (rhomboid like 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72626/rhbdl3-(rhomboid-like-3)