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Gene : HSD17B3 Homo sapiens

Name  ? hydroxysteroid 17-beta dehydrogenase 3 Cytological Location  9q22.32
Brief Description  hydroxysteroid 17-beta dehydrogenase 3
Description  This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
  • synonyms:
  • NM_000197,
  • OTTHUMG00000020292,
  • short chain dehydrogenase/reductase family 12C, member 2,
  • HSD17B3,
  • hydroxysteroid (17-beta) dehydrogenase 3,
  • EDH17B3,
  • SDR12C2,
  • SDR12C2,
  • uc004awa.2,
  • HGNC:5212
  • identifiers:
  • 3293,
  • ENSG00000130948,
  • HSD17B3

Genome feature

Region: gene ? Length: 78682  
Location: 9:96235306-96313987 reverse strand Cyto location: 9q22.32


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

3753 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results