Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

3295

Name

HSD17B4

Synonymous

DBP|MFE-2|MPF-2|PRLTS1|SDR8C1;hydroxysteroid (17-beta) dehydrogenase 4;HSD17B4;hydroxysteroid (17-beta) dehydrogenase 4

Definition

17-beta-HSD 4|17-beta-HSD IV|17-beta-hydroxysteroid dehydrogenase 4|17beta-estradiol dehydrogenase type IV|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase|D-3-hydroxyacyl-CoA dehydratase|D-bifunctional protein, peroxisomal|beta-h

Position

5q21

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for HSD17B4

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.I380I; chr5:118835179-118835179

lungadenocarcinoma; carcinoma

p.G619C; chr5:118866961-118866961

lungadenocarcinoma; carcinoma

p.E216D; chr5:118824912-118824912

lungadenocarcinoma; carcinoma

p.F469Y; chr5:118844908-118844908

lungadenocarcinoma; carcinoma

p.?; chr5:118824886-118824886

lungadenocarcinoma; carcinoma

p.?; chr5:118824886-118824886

lungadenocarcinoma; carcinoma

p.R183R; chr5:118814643-118814643

lungadenocarcinoma; carcinoma

p.Q587E; chr5:118862906-118862906

lungsquamous_cell_carcinoma; carcinoma

p.G306*; chr5:118832285-118832285

lungsmall_cell_carcinoma; carcinoma

p.G197V; chr5:118814684-118814684

lungsmall_cell_carcinoma; carcinoma


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