DHRS2

dehydrogenase/reductase 2, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 14:23630115-23645639

Links

ENSG00000100867 ∙ NCBI:10202 ∙ OMIM:615194 ∙ HGNC:18349 ∙ Uniprot:Q13268 ∙ 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 DHRS2 gene.

• not_specified (63 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005794.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			6	3	3	12
missense			47	10	1	58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	13	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRS2	protein_coding	protein_coding	ENST00000344777	8	15525

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.72e-7	0.319	125688	0	60	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.17	235	190	1.24	0.0000120	1907
Missense in Polyphen		78	58.621	1.3306		649
Synonymous	-1.46	97	80.3	1.21	0.00000533	656
Loss of Function	0.383	10	11.4	0.878	5.71e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000511	0.000511
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000310	0.000308
Middle Eastern	0.000110	0.000109
South Asian	0.000294	0.000294
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Displays NADPH-dependent dicarbonyl reductase activity in vitro with 3,4-Hexanedione, 2,3-Heptanedione and 1-Phenyl-1,2- propanedione as substrates. No reductase activity is displayed in vitro with steroids, retinoids and sugars as substrates. Attenuates MDM2-mediated p53/TP53 degradation, leading to p53/TP53 stabilization and increased transcription activity, resulting in the accumulation of MDM2 and CDKN1A/p21. {ECO:0000269|PubMed:16685466, ECO:0000269|PubMed:20547751}.

Intolerance Scores

• loftool: 0.338
• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.76

Haploinsufficiency Scores

• pHI: 0.300
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dhrs2
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: C21-steroid hormone metabolic process;negative regulation of cell population proliferation;response to toxic substance;cellular response to oxidative stress;myeloid dendritic cell differentiation;negative regulation of apoptotic process;oxidation-reduction process
• Cellular component: nucleus;nuclear envelope;cytoplasm;mitochondrion;mitochondrial matrix
• Molecular function: carbonyl reductase (NADPH) activity;protein binding