HSD17B14
protein-codinghydroxysteroid 17-beta dehydrogenase 14, the group of Short chain dehydrogenase/reductase superfamily
Gene summary
17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
- DHRS10
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~23.5 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 HSD17B14 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_016246.3. 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 | 1 | 1 | ||||
| missense | 39 | 1 | 40 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 42 | 2 | 0 | 44 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_057330.2 | 9 | MANE Select | |
| Ensembl | ENSP00000263278.3 | 9 | MANE Select | |
| Ensembl | ENSP00000469557.1 | 7 | Standard | |
| Ensembl | ENSP00000471631.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Metabolism of lipids
- Metabolism
- Estrogen biosynthesis
- Metabolism of steroid hormones
- Metabolism of steroids
Biological Process
- estrogen biosynthetic process
- steroid catabolic process
- oxidation-reduction process
Molecular Function
- estradiol 17-beta-dehydrogenase activity
- protein binding
- identical protein binding
- testosterone 17-beta-dehydrogenase (NADP+) activity
Cellular Component
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000263278
- Coding exons
- 9
- Length
- 23662
- Individuals with no LoFs
- 125519
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 229
- Defined
- 125748
- p
- 0.000911
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.140 | 176 | 171 | 1.03 | 0.00000989 | 1692 |
| Missense (PolyPhen) | 59 | 62.602 | 0.94246 | 636 | ||
| Synonymous | 1.03 | 62 | 73.2 | 0.847 | 0.00000431 | 602 |
| Loss of Function | -0.0411 | 16 | 15.8 | 1.01 | 9.49e-7 | 151 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0099 | 0.0098 | notable |
| Latino/Admixed American | 0.00072 | 0.00072 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00029 | 0.00029 | rare |
| South Asian | 0.00029 | 0.00029 | rare |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3- beta,17-beta-diol (in vitro). {ECO:0000269|PubMed:17067289}.;
Intolerance Scores
- LoFtool
- 0.456
- RVIS EVS
- 0.93
- RVIS percentile EVS
- 89.7
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.261
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |