RDH13 (retinol dehydrogenase 13)

2014-08-01  

Identity

HGNC
RDH13
LOCATION
19q13.42
LOCUSID
112724
ALIAS
SDR7C3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 112724
HGNC: 19978
Ensembl: ENSG00000160439

Variants:

dbSNP: 112724
ClinVar: 112724
TCGA: ENSG00000160439
COSMIC: RDH13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160439ENST00000291892G8JLA1
ENSG00000160439ENST00000396247Q8NBN7
ENSG00000160439ENST00000415061Q8NBN7
ENSG00000160439ENST00000415061A0A024R4M8
ENSG00000160439ENST00000586945K7EMY5
ENSG00000160439ENST00000587026K7EQB5
ENSG00000160439ENST00000587721K7ERV1
ENSG00000160439ENST00000591960K7ERV1
ENSG00000160439ENST00000592573G8JLA1
ENSG00000160439ENST00000610356Q8NBN7

Expression (GTEx)

0
5
10
15
20
25
30
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

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by Retinoic AcidREACTOMER-HSA-5362517
RA biosynthesis pathwayREACTOMER-HSA-5365859

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
180393312008Human retinol dehydrogenase 13 (RDH13) is a mitochondrial short-chain dehydrogenase/reductase with a retinaldehyde reductase activity.30
180393312008Human retinol dehydrogenase 13 (RDH13) is a mitochondrial short-chain dehydrogenase/reductase with a retinaldehyde reductase activity.30

Citation

Dessen P

RDH13 (retinol dehydrogenase 13)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54579/rdh13-(retinol-dehydrogenase-13)