DHRS4L2

dehydrogenase/reductase 4 like 2, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 14:23969874-24006408

Links

ENSG00000187630 ∙ NCBI:317749 ∙ OMIM:615196 ∙ HGNC:19731 ∙ Uniprot:Q6PKH6 ∙ 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 DHRS4L2 gene.

• not_specified (59 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS4L2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198083.4. 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				2	1	3
missense			52	6		58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	52	8	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRS4L2	protein_coding	protein_coding	ENST00000335125	7	36470

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.64e-7	0.231	102489	1424	21760	125673	0.0969

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.13	213	142	1.50	0.00000798	1457
Missense in Polyphen		58	36.036	1.6095		375
Synonymous	-2.95	90	60.8	1.48	0.00000360	493
Loss of Function	0.162	10	10.6	0.946	4.46e-7	128

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.169	0.166
Ashkenazi Jewish	0.0594	0.0597
East Asian	0.219	0.211
Finnish	0.0567	0.0546
European (Non-Finnish)	0.0692	0.0701
Middle Eastern	0.219	0.211
South Asian	0.179	0.178
Other	0.0952	0.0947

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable oxidoreductase. {ECO:0000250}.
• Pathway: Retinol metabolism - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0907

Intolerance Scores

• loftool: 0.147
• rvis_EVS: 2.47
• rvis_percentile_EVS: 98.61

Haploinsufficiency Scores

• pHI: 0.0350
• hipred: N
• hipred_score: 0.132
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: oxidation-reduction process
• Cellular component: extracellular region
• Molecular function: oxidoreductase activity