HSD17B8

hydroxysteroid 17-beta dehydrogenase 8, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 6:33204655-33206831

Previous symbols: [ "FABGL" ]

Links

ENSG00000204228 ∙ NCBI:7923 ∙ OMIM:601417 ∙ HGNC:3554 ∙ Uniprot:Q92506 ∙ 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 HSD17B8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSD17B8 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			16	2		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	0

Variants in HSD17B8

This is a list of pathogenic ClinVar variants found in the HSD17B8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-33204923-G-C		not specified	Uncertain significance (Aug 28, 2023)
6-33204937-C-T		not specified	Uncertain significance (Jul 26, 2022)
6-33204961-G-A		not specified	Uncertain significance (Dec 21, 2022)
6-33204989-C-T		not specified	Uncertain significance (Jun 12, 2023)
6-33205234-G-C		not specified	Uncertain significance (Feb 01, 2023)
6-33205261-C-T		not specified	Uncertain significance (Apr 22, 2022)
6-33205283-T-A		not specified	Likely benign (Sep 13, 2023)
6-33205293-A-G		not specified	Uncertain significance (Oct 16, 2023)
6-33205324-C-T		not specified	Uncertain significance (Nov 17, 2022)
6-33205333-T-A		not specified	Uncertain significance (Jan 29, 2024)
6-33205450-A-G		not specified	Uncertain significance (Oct 12, 2021)
6-33205499-G-A		not specified	Uncertain significance (Jun 12, 2023)
6-33205502-G-T		not specified	Uncertain significance (Apr 23, 2024)
6-33205532-T-C		not specified	Uncertain significance (Jan 23, 2024)
6-33205677-A-G		not specified	Uncertain significance (Feb 28, 2023)
6-33205683-G-T		not specified	Uncertain significance (Feb 27, 2024)
6-33205838-C-T		not specified	Uncertain significance (May 02, 2023)
6-33206134-A-G		not specified	Likely benign (Oct 25, 2023)
6-33206412-T-G		not specified	Uncertain significance (Aug 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HSD17B8	protein_coding	protein_coding	ENST00000374662	9	2190

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000369	0.837	125259	3	359	125621	0.00144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.428	125	139	0.898	0.00000694	1634
Missense in Polyphen		60	56.619	1.0597		677
Synonymous	0.958	46	55.0	0.836	0.00000280	553
Loss of Function	1.32	9	14.4	0.624	7.23e-7	150

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00196	0.00191
Ashkenazi Jewish	0.00	0.00
East Asian	0.00175	0.00174
Finnish	0.00143	0.00143
European (Non-Finnish)	0.00210	0.00204
Middle Eastern	0.00175	0.00174
South Asian	0.000354	0.000294
Other	0.00181	0.00179

dbNSFP

Source: dbNSFP

• Function: FUNCTION: NAD-dependent 17-beta-hydroxysteroid dehydrogenase with highest activity towards estradiol. Has very low activity towards testosterone (PubMed:17978863). The heterotetramer with CBR4 has NADH-dependent 3-ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis (PubMed:19571038, PubMed:25203508). Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD (PubMed:25203508). {ECO:0000269|PubMed:17978863, ECO:0000269|PubMed:19571038, ECO:0000269|PubMed:25203508}.
• Pathway: Steroid hormone biosynthesis - Homo sapiens (human);Metabolism of lipids;Fatty acyl-CoA biosynthesis;Metabolism;Fatty acid metabolism (Consensus)

Intolerance Scores

• loftool: 0.564
• rvis_EVS: 0.57
• rvis_percentile_EVS: 81.89

Haploinsufficiency Scores

• pHI: 0.181
• hipred: N
• hipred_score: 0.376
• ghis: 0.437

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.895

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: H2-Ke6

Gene ontology

• Biological process: fatty acid biosynthetic process;estrogen biosynthetic process;androgen metabolic process;protein heterotetramerization;oxidation-reduction process
• Cellular component: mitochondrial envelope;mitochondrial matrix;plasma membrane
• Molecular function: 3-hydroxyacyl-CoA dehydrogenase activity;estradiol 17-beta-dehydrogenase activity;protein binding;3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity;testosterone dehydrogenase (NAD+) activity;NADH binding