DHRS11

dehydrogenase/reductase 11, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 17:36591879-36600804

Links

ENSG00000278535 ∙ NCBI:79154 ∙ OMIM:616159 ∙ HGNC:28639 ∙ Uniprot:Q6UWP2 ∙ 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 DHRS11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS11 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						0
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in DHRS11

This is a list of pathogenic ClinVar variants found in the DHRS11 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-36592014-C-G		not specified	Uncertain significance (Apr 22, 2022)
17-36592022-G-C		not specified	Uncertain significance (May 11, 2022)
17-36592023-G-T		not specified	Uncertain significance (Aug 02, 2022)
17-36592043-C-G		not specified	Uncertain significance (Mar 04, 2024)
17-36592059-C-T		not specified	Uncertain significance (Dec 07, 2021)
17-36592074-G-A		not specified	Uncertain significance (Apr 25, 2022)
17-36592137-G-T		not specified	Uncertain significance (Dec 21, 2023)
17-36592146-G-A		not specified	Uncertain significance (Oct 10, 2023)
17-36595044-A-G		not specified	Uncertain significance (Jul 08, 2022)
17-36595055-C-T		not specified	Uncertain significance (Dec 02, 2022)
17-36595061-A-G		not specified	Uncertain significance (Jun 02, 2024)
17-36595092-G-A		not specified	Uncertain significance (May 02, 2024)
17-36595149-G-A		not specified	Uncertain significance (Feb 02, 2022)
17-36598181-A-G		not specified	Uncertain significance (Mar 23, 2023)
17-36598184-A-G		not specified	Uncertain significance (Mar 20, 2024)
17-36598985-G-A		not specified	Uncertain significance (Oct 20, 2021)
17-36599022-G-A		not specified	Uncertain significance (Jan 23, 2024)
17-36599039-A-G		not specified	Uncertain significance (May 18, 2023)
17-36599043-G-A		not specified	Uncertain significance (Apr 09, 2024)
17-36599704-G-A		not specified	Uncertain significance (Feb 28, 2024)
17-36599711-A-G		not specified	Uncertain significance (Dec 09, 2023)
17-36600018-G-A		not specified	Uncertain significance (Dec 13, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5-alpha-androstanes into their 17-beta-hydroxyl metabolites and the conversion of the 3-keto group of 3-, 3,17- and 3,20- diketosteroids into their 3-hydroxyl metabolites. Exhibits reductive 3-beta-hydroxysteroid dehydrogenase activity toward 5-beta-androstanes, 5-beta- pregnanes, 4-pregnenes and bile acids. May also reduce endogenous and exogenous alpha-dicarbonyl compounds and xenobiotic alicyclic ketones. {ECO:0000269|PubMed:26920053}.

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.377
• rvis_EVS: -0.18
• rvis_percentile_EVS: 39.95

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.444

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0578

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dhrs11

Gene ontology

• Biological process: steroid biosynthetic process;estrogen biosynthetic process;oxidation-reduction process
• Cellular component: cellular_component;extracellular region
• Molecular function: nucleotide binding;3-keto sterol reductase activity;estradiol 17-beta-dehydrogenase activity;17-beta-ketosteroid reductase activity;17-beta-hydroxysteroid dehydrogenase (NADP+) activity