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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 16.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_016246.3	NP_057330.2	9	yes	-
ENST00000263278.9	ENSP00000263278.3	9	yes	-
ENST00000599157.5	ENSP00000472746.1	8	-	-
ENST00000595764.1	ENSP00000469557.1	7	-	-

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 (38 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_016246.3. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	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

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HSD17B14	protein_coding	protein_coding	ENST00000263278	9	23662

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125519	0	229	125748	0.000911

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.140	176	171	1.03	0.00000989	1692
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0106	0.0105
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000292	0.000290
Middle Eastern	0.0000544	0.0000544
South Asian	0.000295	0.000294
Other	0.000495	0.000489

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

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

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

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