HSD17B13
  • 40
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
HSD17B13 (HGNC:18685) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
hydroxysteroid 17-beta dehydrogenase 13
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
SCDR9, SDR16C3
%HI
70.24(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.15(Read more about gnomAD LOEUF score)
Cytoband
4q22.1
Genomic Coordinates
GRCh37/hg19: chr4:88224946-88244034 NCBI Ensembl UCSC
GRCh38/hg38: chr4:87303794-87322882 NCBI Ensembl UCSC
MANE Select Transcript
NM_178135.5 ENST00000328546.5 (Read more about MANE Select)
Function
Plays a pivotal role in hepatic lipid metabolism (PubMed:29562163). In vitro, it catalyzes the oxidation of a variety of lipid substrates, including 17beta-estradiol, retinol, retinal, and leukotriene B4 (PubMed:29562163, PubMed:30415504, PubMed:32973038). {ECO:0000269|PubMed:29562163, ECO:0000269|PubMed:30415504, ECO:0000269|PubMed:32973038}. [Isoform 2]: Has retinol/retinal dehydrogenase activity in vitro. {ECO:0000269|PubMed:30415504, ECO:0000269|PubMed:32973038}. [Isoform 1]: Does not have r... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36155
ClinGen Curation ID:
CCID:007301
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/02/2021

Haploinsufficiency (HI) Score Details

HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
HI Evidence:
  • PUBMED: 32487729
    Rausell et al. (2020) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present in >1% of the gnomAD population. Examples of homozygous LoF variants in this gene in gnomAD include p.Ser201Ter (1 homozygous individual), p.Ala192LeufsTer8 (403 homozygous individuals), and p.Trp150Ter (1 homozygous individual).
  • PUBMED: 22344438
    MacArthur et al. (2012) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present at >5% of the 1000 Genomes Project database.
  • PUBMED: 26940866
    Narasimhan et al. (2016) identified rare homozygous loss-of-function (rnLOF) variants in a British Pakistani population characterized as healthy, pregnant, or type 2 diabetic. The variants were compared with an Icelandic population and the ExAC database and a HSD17B13 variant was found in the British Pakistani and ExAC populations.
  • PUBMED: 32461654
    Karczewski et al. (2020) identifies 443,769 high confidence loss of function variants in the Genome Aggregation Database (gnomAD) population including these variants (p.Ser201Ter, p.Ala192LeufsTer8, and p.Trp150Ter). Several methods were used to identify these genes including manual curation and utilizing LOEUF scores.
HI Evidence Comments:
This gene was classified as dosage sensitivity unlikely on 2/2/2021 based on review of population data as described in the PMIDs above. These genes all have at least one curated homozygous loss of function variant in 1% or greater of the gnomAD population dataset and some have also been observed in additional population datasets. As of January 2021, there are no disease associations found in OMIM, and no reports suggesting a Mendelian disease association in the literature. The gnomAD pLI score is 0 and the LOEUF score is 1.14 predicting that this gene is tolerant of LoF variation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)