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.

not_specified (25 variants)
not_provided (2 variants)

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. These statistics are base on transcript: NM_000016245.5. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			23 clinvar	2 clinvar		25
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	23	4	0

Loading clinvar variants...

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