HSD17B11

protein-coding

hydroxysteroid 17-beta dehydrogenase 11, the group of Short chain dehydrogenase/reductase superfamily

Gene summary

Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]

Previous symbols:

DHRS8

MANE transcript

NM_016245.5

Inheritance

—

ClinVar variants

U:31B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.89

Max pathogenic AF

—

Genomic locus

chr4:87,336,515-87,391,188

External References & Databases

Ensembl (ENSG00000198189)

Transcript & Mutation Effects

hg38 • Region Span ~54.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to HSD17B11 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 29

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016245.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			29 clinvar	2 clinvar		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	31	4	0	35

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016245.5	RefSeq	NP_057329.3	7	MANE Select
ENST00000358290.9	Ensembl	ENSP00000351035.4	7	MANE Select
ENST00000507286.1	Ensembl	ENSP00000423775.1	6	Standard
ENST00000507286.2	Ensembl	ENSP00000423775.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Metabolism
Estrogen biosynthesis
Metabolism of steroid hormones
Metabolism of steroids

Biological Process

estrogen biosynthetic process
androgen catabolic process
oxidation-reduction process

Molecular Function

estradiol 17-beta-dehydrogenase activity
steroid dehydrogenase activity

Cellular Component

extracellular region
cytoplasm
lipid droplet
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000358290
Coding exons: 7
Length: 54777
Individuals with no LoFs: 125720
Homozygous LoFs: 0
Heterozygous LoFs: 28
Defined: 125748
p: 0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.844	125	155	0.809	0.00000724	1948
Missense (PolyPhen)		35	49.893	0.7015		662
Synonymous	1.38	46	59.5	0.773	0.00000287	608
Loss of Function	0.368	11	12.4	0.887	6.06e-7	157

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.000089	0.000087	rare
Ashkenazi Jewish	0.00080	0.00079	rare
East Asian	0.00022	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000071	0.000070	rare
South Asian	0.000066	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Can convert androstan-3-alpha,17-beta-diol (3-alpha- diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis. May act by metabolizing compounds that stimulate steroid synthesis and/or by generating metabolites that inhibit it. Has no activity toward DHEA (dehydroepiandrosterone), or A-dione (4-androste-3,17-dione), and only a slight activity toward testosterone to A-dione. Tumor- associated antigen in cutaneous T-cell lymphoma.;

Recessive Scores

pRec: 0.107

Intolerance Scores

LoFtool: 0.505
RVIS EVS: 0.17
RVIS percentile EVS: 65.56

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.423

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium