HSD17B11

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

Basic information

Region (hg38): 4:87336515-87391188

Previous symbols: [ "DHRS8" ]

Links

ENSG00000198189 ∙ NCBI:51170 ∙ OMIM:612831 ∙ HGNC:22960 ∙ Uniprot:Q8NBQ5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HSD17B11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSD17B11 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	2	0

Variants in HSD17B11

This is a list of pathogenic ClinVar variants found in the HSD17B11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-87337283-G-A		not specified	Uncertain significance (Dec 12, 2022)
4-87337344-C-T		not specified	Uncertain significance (Dec 12, 2024)
4-87337352-C-T		not specified	Uncertain significance (Mar 14, 2025)
4-87340515-T-C		not specified	Uncertain significance (Nov 09, 2023)
4-87340587-G-T		not specified	Uncertain significance (Nov 17, 2022)
4-87357313-C-T		not specified	Likely benign (Jan 08, 2025)
4-87357335-T-G			Likely benign (Oct 01, 2022)
4-87372732-C-G			Likely benign (Oct 01, 2022)
4-87372779-T-C		not specified	Uncertain significance (Jun 22, 2024)
4-87374715-A-C		not specified	Uncertain significance (Apr 25, 2022)
4-87374749-C-A		not specified	Uncertain significance (Apr 04, 2024)
4-87374773-T-C		not specified	Uncertain significance (Dec 11, 2024)
4-87382332-T-C		not specified	Uncertain significance (Sep 17, 2021)
4-87382349-T-A		not specified	Uncertain significance (Feb 12, 2025)
4-87390886-T-G		not specified	Uncertain significance (Jan 27, 2025)
4-87390889-C-A		not specified	Uncertain significance (Jul 13, 2021)
4-87390911-A-T		not specified	Uncertain significance (Jan 08, 2024)
4-87390916-G-A		not specified	Uncertain significance (Sep 23, 2023)
4-87391018-G-T		not specified	Uncertain significance (Aug 05, 2024)
4-87391027-A-G		not specified	Uncertain significance (Nov 11, 2024)
4-87391031-G-C		not specified	Uncertain significance (Dec 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HSD17B11	protein_coding	protein_coding	ENST00000358290	7	54777

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.08e-7	0.271	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.844	125	155	0.809	0.00000724	1948
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000276	0.000274
Ashkenazi Jewish	0.000797	0.000794
East Asian	0.000222	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000713	0.0000703
Middle Eastern	0.000222	0.000163
South Asian	0.0000657	0.0000653
Other	0.000163	0.000163

dbNSFP

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.
• Pathway: Metabolism of lipids;Metabolism;Estrogen biosynthesis;Metabolism of steroid hormones;Metabolism of steroids;estradiol biosynthesis I;superpathway of steroid hormone biosynthesis;Steroid hormones (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.505
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.163
• hipred: N
• hipred_score: 0.170
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.423

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hsd17b11
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; homeostasis/metabolism phenotype; immune system phenotype

Gene ontology

• Biological process: estrogen biosynthetic process;androgen catabolic process;oxidation-reduction process
• Cellular component: extracellular region;cytoplasm;lipid droplet;cytosol
• Molecular function: estradiol 17-beta-dehydrogenase activity;steroid dehydrogenase activity