HSD17B6 (hydroxysteroid 17-beta dehydrogenase 6)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8630
Gene name Hydroxysteroid 17-beta dehydrogenase 6
Gene symbol HSD17B6
Synonyms (NCBI Gene)
HSERODHSDR9C6
Chromosome 12
Chromosome location 12q13.3
Summary The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone t
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT023180 hsa-miR-124-3p Microarray 18668037
MIRT2245040 hsa-miR-1298 CLIP-seq
MIRT2245041 hsa-miR-205 CLIP-seq
MIRT2245042 hsa-miR-29a CLIP-seq
MIRT2245043 hsa-miR-29b CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
HSF1 Repression 16278218
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity TAS 9188497
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity IBA
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity IDA 10896656, 11360992
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606623 23316 ENSG00000025423
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14756
Protein name 17-beta-hydroxysteroid dehydrogenase type 6 (17-beta-HSD 6) (17-beta-HSD6) (EC 1.1.1.105) (EC 1.1.1.209) (EC 1.1.1.239) (EC 1.1.1.53) (EC 1.1.1.62) (3-alpha->beta-hydroxysteroid epimerase) (3-alpha->beta-HSE) (Oxidative 3-alpha hydroxysteroid dehydrogenas
Protein function NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 30 → 223 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain, placenta, prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate nucleus, and at lower levels in amyg
Sequence
Sequence length 317
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Steroid hormone biosynthesis
Retinol metabolism
Metabolic pathways
Biosynthesis of cofactors 		  The canonical retinoid cycle in rods (twilight vision)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways 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)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (51)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
11-Beta-hydroxylase deficiency 11-beta-hydroxylase deficiency BEFREE 29543924
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22792362, 28431312
★★★★★
★☆☆☆☆
Found in Text Mining only
Bullous pemphigoid Bullous Pemphigoid BEFREE 31824475
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33495920, 34664394 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28185061
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36938730 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 28450497
★★★★★
★☆☆☆☆
Found in Text Mining only
Coffin-Lowry syndrome Coffin-Lowry Syndrome BEFREE 11189448
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Congenital adrenal hyperplasia BEFREE 29543924
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital ichthyosis Congenital Ichthyosis BEFREE 16436457
★★★★★
★☆☆☆☆
Found in Text Mining only