DHRS9 (dehydrogenase/reductase 9)

Gene

• Entrez ID: 10170
• Gene name: Dehydrogenase/reductase 9
• Gene symbol: DHRS9
• Synonyms (NCBI Gene): 3-alpha-HSD, 3ALPHA-HSD, RDH-TBE, RDH15, RDHL, RDHTBE, RETSDR8, SDR9C4, hRoDH-E2
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoredu

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002138	Process	Retinoic acid biosynthetic process	IEA
GO:0004022	Function	Alcohol dehydrogenase (NAD+) activity	IDA	11304534
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IDA	11304534
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IEA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	11294878
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IBA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008209	Process	Androgen metabolic process	IDA	11294878
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016854	Function	Racemase and epimerase activity	NAS	11294878
GO:0030855	Process	Epithelial cell differentiation	NAS	11304534
GO:0042448	Process	Progesterone metabolic process	IDA	11294878
GO:0042572	Process	Retinol metabolic process	NAS	11304534
GO:0042904	Process	9-cis-retinoic acid biosynthetic process	IDA	11304534
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IDA	11294878
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IEA
GO:0047035	Function	Testosterone dehydrogenase (NAD+) activity	IDA	11294878
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity	IDA	11294878
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity	IEA

Other IDs

• MIM: 612131
• HGNC: 16888
• e!Ensembl: ENSG00000073737

Protein

• UniProt ID: Q9BPW9
• Protein name: Dehydrogenase/reductase SDR family member 9 (EC 1.1.1.209) (EC 1.1.1.53) (3-alpha hydroxysteroid dehydrogenase) (3-alpha-HSD) (NADP-dependent retinol dehydrogenase/reductase) (RDH-E2) (RDHL) (Retinol dehydrogenase 15) (EC 1.1.1.105) (Short chain dehydroge
• Protein function: 3-alpha-hydroxysteroid dehydrogenase that converts 3-alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone (PubMed:11294878, PubMed:29541409). Also plays a role in the biosyn
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	30 → 221	short chain dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in trachea and epidermis. Detected at lower levels in spinal cord, bone marrow, brain, tongue, esophagus, heart, colon, testis, placenta, lung, skeletal muscle and lymph node. {ECO:0000269|PubMed:11294878, ECO:0000269|
• Sequence:

  MLFWVLGLLILCGFLWTRKGKLKIEDITDKYIFITGCDSGFGNLAARTFDKKGFHVIAAC
  LTESGSTALKAETSERLRTVLLDVTDPENVKRTAQWVKNQVGEKGLWGLINNAGVPGVLA
  PTDWLTLEDYREPIEVNLFGLISVTLNMLPLVKKAQGRVINVSSVGGRLAIVGGGYTPSK
  YAVEGFNDSLRRDMKAFGVHVSCIEPGLFKTNLADPVKVIEKKLAIWEQLSPDIKQQYGE
  GYIEKSLDKLKGNKSYVNMDLSPVVECMDHALTSLFPKTHYAAGKDAKIFWIPLSHMPAA
  LQDFLLLKQKAELANPKAV

• Sequence length: 319

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Reactome:

The canonical retinoid cycle in rods (twilight vision)
RA biosynthesis pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	26923074		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32650679	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34737791	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23406739		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21323680		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	16102592		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	17244623	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21323680		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18723074		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15190067	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24599561, 36340269	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26254099	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11238528		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32752300	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	13678667		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	35296854	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	22344199	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26254099	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18320593, 30605780		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21323680		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30149992		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30149992		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27056885	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29520627		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	26608307	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22344199, 27056885	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27056885		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29727810, 30529908		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16102592		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18320593, 30605780		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	16179381		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19018576	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32752300	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30149992		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17244623	Associate	★☆☆☆☆ Found in Text Mining only