DHRS9: Dehydrogenase/Reductase 9

A short-chain dehydrogenase/reductase involved in retinoic acid metabolism and potential tumor suppression

Gene Information Card

Symbol DHRS9
Full Name Dehydrogenase/Reductase 9
Gene Type Protein coding
Chromosomal Location 2q31.1
NCBI Gene ID 10170 ncbi.nlm.nih.gov/gene/10170
Ensembl ID ENSG00000115128
UniProt ID Q9BPW9
OMIM ID 612131
HGNC ID 16887
Aliases RDHL, SDR34C1, retinol dehydrogenase-like

Description

DHRS9 encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The enzyme catalyzes the oxidation of retinol to retinaldehyde and the reduction of all-trans-retinal to all-trans-retinol, playing a role in retinoic acid biosynthesis. It is implicated in cellular differentiation and may function as a tumor suppressor in certain cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Colorectal cancer Reduced DHRS9 expression may impair retinoic acid signaling, promoting tumor progression. NCBI Gene, PubMed
Gastric cancer Downregulation of DHRS9 is associated with poor prognosis and may contribute to epithelial-mesenchymal transition. NCBI Gene, PubMed
Breast cancer Altered DHRS9 expression linked to retinoic acid metabolism dysregulation. NCBI Gene, PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Kidney 8.3 Medium
Small intestine 6.7 Medium
Colon 5.2 Low
Stomach 4.1 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 15.0 Hepatocellular carcinoma cell line
Caco-2 7.8 Colorectal adenocarcinoma cell line
MCF7 3.2 Breast cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense <0.01% Unknown functional impact
c.100C>T Nonsense <0.01% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations leading to premature stop codons are predicted to cause loss of enzyme activity.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Gene Ontology (GO)

retinol dehydrogenase activity (GO:0004745) • oxidation-reduction process (GO:0055114)
endoplasmic reticulum (GO:0005783) oxidoreductase activity (GO:0016620)

Pathways

Retinol metabolism (KEGG: hsa00830)
Metabolic pathways (KEGG: hsa01100)

Protein Summary

DHRS9 is a 318-amino acid protein localized to the endoplasmic reticulum. It functions as a retinol dehydrogenase, converting retinol to retinaldehyde in the retinoic acid synthesis pathway. The protein contains a conserved NAD(P)-binding domain characteristic of SDR family members.

Related Products

Product name Cat.No. Species Gene ID
DHRS9 Knockout HEK293 Cell Line EDJ-KQ6930 Human 10170 Details Get a Quote
DHRS9 Knockout HeLa Cell Line EDJ-KQ55334 Human 10170 Details Get a Quote
DHRS9 Knockout A-549 Cell Line EDJ-KQ63815 Human 10170 Details Get a Quote
DHRS9 Knockout HCT 116 Cell Line EDJ-KQ72276 Human 10170 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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