GeneBe

HSD17B14

hydroxysteroid 17-beta dehydrogenase 14, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 19:48813018-48836510

Previous symbols: [ "DHRS10" ]

Links

ENSG00000087076 ∙ NCBI:51171 ∙ OMIM:612832 ∙ HGNC:23238 ∙ Uniprot:Q9BPX1 ∙ 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 HSD17B14 gene.

  • not_specified (31 variants)
  • High_myopia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSD17B14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016246.3. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
 1
missense
29
clinvar
1
clinvar
 30
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 29 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
HSD17B14protein_codingprotein_codingENST00000263278 923662
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
3.43e-110.047412551902291257480.000911
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1401761711.030.000009891692
Missense in Polyphen5962.6020.94246636
Synonymous1.036273.20.8470.00000431602
Loss of Function-0.04111615.81.019.49e-7151

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.01060.0105
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.0002920.000290
Middle Eastern0.00005440.0000544
South Asian0.0002950.000294
Other0.0004950.000489

dbNSFP

Source: dbNSFP

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}.;
Pathway
Metabolism of lipids;Metabolism;Estrogen biosynthesis;Metabolism of steroid hormones;Metabolism of steroids;Steroid hormones (Consensus)

Intolerance Scores

loftool
0.456
rvis_EVS
0.93
rvis_percentile_EVS
89.7

Haploinsufficiency Scores

pHI
0.212
hipred
N
hipred_score
0.201
ghis
0.409

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.261

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Hsd17b14
Phenotype
immune system phenotype; reproductive system phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype;

Gene ontology

Biological process
estrogen biosynthetic process;steroid catabolic process;oxidation-reduction process
Cellular component
cytosol
Molecular function
estradiol 17-beta-dehydrogenase activity;protein binding;identical protein binding;testosterone 17-beta-dehydrogenase (NADP+) activity