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HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 [ Homo sapiens (human) ]

Gene ID: 3293, updated on 19-Jun-2024

Summary

Official Symbol
HSD17B3provided by HGNC
Official Full Name
hydroxysteroid 17-beta dehydrogenase 3provided by HGNC
Primary source
HGNC:HGNC:5212
See related
Ensembl:ENSG00000130948 MIM:605573; AllianceGenome:HGNC:5212
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EDH17B3; SDR12C2
Summary
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]
Expression
Biased expression in testis (RPKM 7.7), small intestine (RPKM 0.7) and 4 other tissues See more
Orthologs
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Genomic context

See HSD17B3 in Genome Data Viewer
Location:
9q22.32
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (96235306..96302176, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (108406656..108473885, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (98997588..99064458, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr9:98922000-98922212 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110786 Neighboring gene uncharacterized LOC107987033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98949371-98950169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20076 Neighboring gene SLC35D2-HSD17B3 readthrough Neighboring gene HSD17B3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28651 Neighboring gene RNA, U6 small nuclear 1160, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:99051559-99052109 Neighboring gene solute carrier family 35 member D2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:99104760-99105284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:99105285-99105808 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20078 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110866 Neighboring gene Sharpr-MPRA regulatory region 10311 Neighboring gene zinc finger protein 367 Neighboring gene NSA2 pseudogene 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Testosterone 17-beta-dehydrogenase deficiency
MedGen: C0268296 OMIM: 264300 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of smoking behaviours among Bangladeshi adults.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough SLC35D2-HSD17B3

Readthrough gene: SLC35D2-HSD17B3, Included gene: SLC35D2

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in androgen biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in male genitalia development TAS
Traceable Author Statement
more info
PubMed 
involved_in steroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in testosterone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in intracellular membrane-bounded organelle TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
17-beta-hydroxysteroid dehydrogenase type 3
Names
17-beta-HSD 3
17-beta-HSD3
estradiol 17-beta-dehydrogenase 2
hydroxysteroid dehydrogenase 3
short chain dehydrogenase/reductase family 12C member 2
testicular 17-beta-hydroxysteroid dehydrogenase
testosterone 17-beta-dehydrogenase 3
NP_000188.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008157.1 RefSeqGene

    Range
    4977..71847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1296

mRNA and Protein(s)

  1. NM_000197.2NP_000188.1  17-beta-hydroxysteroid dehydrogenase type 3

    See identical proteins and their annotated locations for NP_000188.1

    Status: REVIEWED

    Source sequence(s)
    BC034281, HY027495
    Consensus CDS
    CCDS6716.1
    UniProtKB/Swiss-Prot
    P37058, Q5U0Q6
    UniProtKB/TrEMBL
    A0A0S2Z3U6, Q6FH62
    Related
    ENSP00000364412.3, ENST00000375263.8
    Conserved Domains (1) summary
    cd05356
    Location:48284
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    96235306..96302176 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    108406656..108473885 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)