HSD17B13
protein-codinghydroxysteroid 17-beta dehydrogenase 13, 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 and steroid dehydrogenase activity. Acts upstream of or within positive regulation of lipid biosynthetic process. Located in lipid droplet. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~19.1 kbGenCC 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 HSD17B13 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_178135.5. 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 | 1 | 1 | ||||
| missense | 40 | 1 | 3 | 44 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 40 | 2 | 4 | 46 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_835236.2 | 7 | MANE Select | |
| Ensembl | ENSP00000333300.4 | 7 | MANE Select | |
| RefSeq | NP_001129702.1 | 6 | Standard | |
| Ensembl | ENSP00000305438.6 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Metabolism of lipids
- Metabolism
- Lipid particle organization
Biological Process
- biological_process
- lipid droplet organization
- positive regulation of lipid biosynthetic process
- oxidation-reduction process
Molecular Function
- molecular_function
- steroid dehydrogenase activity
Cellular Component
- cellular_component
- extracellular region
- lipid droplet
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000328546
- Coding exons
- 7
- Length
- 19118
- Individuals with no LoFs
- 122064
- Homozygous LoFs
- 263
- Heterozygous LoFs
- 3420
- Defined
- 125747
- p
- 0.0148
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.0219 | 166 | 167 | 0.995 | 0.00000910 | 1947 |
| Missense (PolyPhen) | 44 | 44.14 | 0.99684 | 586 | ||
| Synonymous | 0.518 | 59 | 64.3 | 0.918 | 0.00000392 | 594 |
| Loss of Function | 1.20 | 9 | 13.8 | 0.653 | 7.65e-7 | 164 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.22 | 0.18 | notable |
| Latino/Admixed American | 0.011 | 0.0092 | notable |
| Ashkenazi Jewish | 0.0023 | 0.0022 | notable |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0.012 | 0.012 | notable |
| European (Non-Finnish) | 0.0037 | 0.0036 | notable |
| South Asian | 0.00061 | 0.00059 | rare |
| Other | 0.012 | 0.010 | notable |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.108
Intolerance Scores
- LoFtool
- 0.208
- RVIS EVS
- 0.4
- RVIS percentile EVS
- 76.31
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0313
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |