DHRS4

dehydrogenase/reductase 4, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 14:23953734-23969279

Links

ENSG00000157326 ∙ NCBI:10901 ∙ OMIM:611596 ∙ HGNC:16985 ∙ Uniprot:Q9BTZ2 ∙ 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 DHRS4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS4 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				1	1	2
missense			27	3	1	31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	4	2

Variants in DHRS4

This is a list of pathogenic ClinVar variants found in the DHRS4 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-23953822-C-A			Benign (Feb 25, 2018)
14-23953829-G-C		not specified	Uncertain significance (Feb 03, 2022)
14-23953844-T-G		not specified	Uncertain significance (Feb 16, 2023)
14-23953847-C-T		not specified	Uncertain significance (Jun 16, 2023)
14-23953859-T-G		not specified	Uncertain significance (Jan 26, 2022)
14-23953862-C-T		not specified	Uncertain significance (Feb 03, 2022)
14-23953882-A-G		not specified	Uncertain significance (Dec 16, 2023)
14-23955055-G-A		not specified	Uncertain significance (Mar 31, 2023)
14-23955097-G-A			Likely benign (Dec 31, 2019)
14-23955103-A-C		not specified	Uncertain significance (Jun 28, 2022)
14-23955107-G-C		not specified	Uncertain significance (Aug 28, 2024)
14-23955112-T-A		not specified	Uncertain significance (Jan 30, 2024)
14-23955121-C-T		not specified	Uncertain significance (Aug 07, 2024)
14-23955130-C-T		not specified	Uncertain significance (Jul 30, 2024)
14-23955135-C-G		not specified	Uncertain significance (Jun 21, 2023)
14-23955165-G-C		not specified	Uncertain significance (Dec 03, 2024)
14-23955182-G-C		not specified	Uncertain significance (Sep 11, 2024)
14-23955191-C-G		not specified	Uncertain significance (Jan 10, 2022)
14-23955192-C-G		not specified	Uncertain significance (Apr 25, 2022)
14-23955204-G-C		not specified	Uncertain significance (Jul 14, 2024)
14-23959921-G-T		not specified	Uncertain significance (Oct 09, 2024)
14-23959956-C-A		not specified	Uncertain significance (May 09, 2023)
14-23959966-G-A		not specified	Uncertain significance (Jul 19, 2022)
14-23959978-A-C		not specified	Uncertain significance (Apr 19, 2024)
14-23959985-T-C			Likely benign (Mar 29, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRS4	protein_coding	protein_coding	ENST00000313250	8	15694

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000102	0.579	125680	1	67	125748	0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.51	231	175	1.32	0.0000103	1779
Missense in Polyphen		88	71.797	1.2257		754
Synonymous	-1.17	84	71.4	1.18	0.00000427	581
Loss of Function	0.795	9	12.0	0.752	6.05e-7	138

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000490	0.000487
Ashkenazi Jewish	0.0000997	0.0000992
East Asian	0.000637	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.000203	0.000202
Middle Eastern	0.000637	0.000598
South Asian	0.000705	0.000653
Other	0.000493	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Reduces all-trans-retinal and 9-cis retinal. Can also catalyze the oxidation of all-trans-retinol with NADP as co- factor, but with much lower efficiency. Reduces alkyl phenyl ketones and alpha-dicarbonyl compounds with aromatic rings, such as pyrimidine-4-aldehyde, 3-benzoylpyridine, 4-benzoylpyridine, menadione and 4-hexanoylpyridine. Has no activity towards aliphatic aldehydes and ketones (By similarity). {ECO:0000250}.
• Pathway: Retinol metabolism - Homo sapiens (human);Peroxisome - Homo sapiens (human);Vitamin A Deficiency;Retinol Metabolism;Signal Transduction;RA biosynthesis pathway;Metabolism of proteins;Leukotriene metabolism;Peroxisomal protein import;Prostaglandin formation from arachidonate;Putative anti-Inflammatory metabolites formation from EPA;retinol biosynthesis;Signaling by Retinoic Acid;Signaling by Nuclear Receptors;the visual cycle I (vertebrates);Arachidonic acid metabolism (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.341
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.38

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.164
• ghis: 0.422

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.750

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dhrs4
• Phenotype: immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype

Gene ontology

• Biological process: alcohol metabolic process;protein targeting to peroxisome;steroid metabolic process;cellular ketone metabolic process;retinol metabolic process;protein tetramerization;oxidation-reduction process
• Cellular component: nucleus;mitochondrion;peroxisome;peroxisomal membrane;peroxisomal matrix;endoplasmic reticulum membrane;cytosol
• Molecular function: 3-keto sterol reductase activity;carbonyl reductase (NADPH) activity;signaling receptor binding;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;alcohol dehydrogenase [NAD(P)+] activity;NADP-retinol dehydrogenase activity