Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51171
Gene name	Hydroxysteroid 17-beta dehydrogenase 14
Gene symbol	HSD17B14
Synonyms (NCBI Gene)	DHRS10SDR47C1retSDR3
Chromosome	19
Chromosome location	19q13.33
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]).[supp

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030036	hsa-miR-26b-5p	Microarray	19088304
MIRT2012688	hsa-miR-552	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004303	Function	Estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 25910212, 27107012, 29892012, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	17067289
GO:0005829	Component	Cytosol	TAS
GO:0006004	Process	Fucose metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042355	Process	L-fucose catabolic process	IDA	38944119
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 27107012, 31515488, 32296183
GO:0047834	Function	D-threo-aldose 1-dehydrogenase activity	IDA	38944119
GO:0047834	Function	D-threo-aldose 1-dehydrogenase activity	IEA

MIM	HGNC	e!Ensembl
612832	23238	ENSG00000087076

Q9BPX1

Protein name

L-fucose dehydrogenase (EC 1.1.1.122) (17-beta-hydroxysteroid dehydrogenase DHRS10) (Dehydrogenase/reductase SDR family member 10) (Retinal short-chain dehydrogenase/reductase retSDR3) (Short chain dehydrogenase/reductase family 47C member 1)

Protein function

Catalyzes the NAD(+)-dependent oxidation of L-fucose, yielding L-fucono-1,5-lactone, which rapidly converts spontaneously to L-fucone-1,4-lactone. Can also act on D-arabinose and L-galactose, with lower catalytic efficiency (PubMed:38944119). Do

PDB

1YDE , 5EN4 , 5HS6 , 5ICM , 5ICS , 5JS6 , 5JSF , 5L7T , 5L7W , 5L7Y , 5O42 , 5O43 , 5O6O , 5O6X , 5O6Z , 5O72 , 5O7C , 6EMM , 6FFB , 6G4L , 6GBT , 6GTB , 6GTU , 6H0M , 6HNO , 6QCK , 6ZDE , 6ZDI , 6ZR6 , 6ZRA , 6ZT2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13561	adh_short_C2	14 → 250		Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, placenta, liver and kidney. {ECO:0000269|PubMed:10800688, ECO:0000269|PubMed:17067289}.

Sequence

MATGTRYAGKVVVVTGGGRGIGAGIVRAFVNSGARVVICDKDESGGRALEQELPGAVFIL
CDVTQEDDVKTLVSETIRRFGRLDCVVNNAGHHPPPQRPEETSAQGFRQLLELNLLGTYT
LTKLALPYLRKSQGNVINISSLVGAIGQAQAVPYVATKGAVTAMTKALALDESPYGVRVN
CISPGNIWTPLWEELAALMPDPRATIREGMLAQPLGRMGQPAEVGAAAVFLASEANFCTG
IELLVTGGAELGYGCKASRSTPVDAPDIPS

Sequence length

270

Interactions

View interactions

	Reactome
			Estrogen biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
High myopia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	22792371, 37578974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36585417, 38375694	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	32515122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	36384125	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28512247		★★★★★ ★☆☆☆☆ Found in Text Mining only

HSD17B14 (hydroxysteroid 17-beta dehydrogenase 14)