SDR42E1

protein-coding

short chain dehydrogenase/reductase family 42E, member 1, the group of Short chain dehydrogenase/reductase superfamily

Gene summary

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_145168.3

Inheritance

—

ClinVar variants

U:83B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.28

Max pathogenic AF

—

Genomic locus

chr16:81,988,855-82,011,481

External References & Databases

Ensembl (ENSG00000184860)

Transcript & Mutation Effects

hg38 • Region Span ~22.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SDR42E1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 84

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145168.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			83 clinvar	3 clinvar		86
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	83	3	0	86

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_145168.3	RefSeq	NP_660151.2	2	MANE Select
ENST00000328945.7	Ensembl	ENSP00000332407.4	2	MANE Select
ENST00000532128.5	Ensembl	ENSP00000434529.1	2	Standard
ENST00000867081.1	Ensembl	ENSP00000537140.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

steroid biosynthetic process
oxidation-reduction process

Molecular Function

3-beta-hydroxy-delta5-steroid dehydrogenase activity
oxidoreductase activity
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000328945
Coding exons: 2
Length: 13873
Individuals with no LoFs: 100728
Homozygous LoFs: 1648
Heterozygous LoFs: 22421
Defined: 124797
p: 0.102

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.78	287	214	1.34	0.0000119	2554
Missense (PolyPhen)		102	79.556	1.2821		1022
Synonymous	-1.89	109	86.6	1.26	0.00000494	822
Loss of Function	-0.794	12	9.38	1.28	5.34e-7	118

Population LoF Frequency

Population	CAF	p-value	Status
African	0.024	0.024	notable
Latino/Admixed American	0.063	0.063	notable
Ashkenazi Jewish	0.12	0.12	notable
East Asian	0.0021	0.0021	notable
Finnish	0.091	0.079	notable
European (Non-Finnish)	0.13	0.13	notable
South Asian	0.16	0.16	notable
Other	0.12	0.11	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0737

Intolerance Scores

LoFtool: 0.179
RVIS EVS: 1.2
RVIS percentile EVS: 92.98

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.146

Gene Damage Prediction

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