HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)

2014-11-01 Affiliation

Identity

HGNC

HSD3B7

LOCATION

16p11.2

LOCUSID

80270

ALIAS

CBAS1,PFIC4,SDR11E3

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 80270
MIM: 607764
HGNC: 18324
Ensembl: ENSG00000099377

Variants:

dbSNP: 80270
ClinVar: 80270
TCGA: ENSG00000099377
COSMIC: HSD3B7

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000099377	ENST00000262520	Q9H2F3
ENSG00000099377	ENST00000297679	Q9H2F3
ENSG00000099377	ENST00000562932	I3L2Q9
ENSG00000099377	ENST00000574447	I3L2H6

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Primary bile acid biosynthesis	KEGG	ko00120
Primary bile acid biosynthesis	KEGG	hsa00120
Metabolic pathways	KEGG	hsa01100
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate	KEGG	hsa_M00104
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate	KEGG	M00104
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Bile acid and bile salt metabolism	REACTOME	R-HSA-194068
Synthesis of bile acids and bile salts	REACTOME	R-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol	REACTOME	R-HSA-193368
Synthesis of bile acids and bile salts via 24-hydroxycholesterol	REACTOME	R-HSA-193775
Synthesis of bile acids and bile salts via 27-hydroxycholesterol	REACTOME	R-HSA-193807

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA166160055	cholic acid	Chemical	LabelAnnotation	associated

References

Pubmed ID	Year	Title	Citations
34627351	2021	Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (HSD3B7) deficiency in China.	3
34627351	2021	Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (HSD3B7) deficiency in China.	3
29670816	2018	The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese.	3
29670816	2018	The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese.	3
26712441	2016	Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis.	9
26712441	2016	Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis.	9
26450365	2015	Expression of steroid sulfated transporters and 3β-HSD activity in endometrium of women having polycystic ovary syndrome.	5
26450365	2015	Expression of steroid sulfated transporters and 3β-HSD activity in endometrium of women having polycystic ovary syndrome.	5
22095780	2012	Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.	10
22095780	2012	Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.	10
20531254	2010	Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.	5
21044367	2010	An integrative method for scoring candidate genes from association studies: application to warfarin dosing.	11
20531254	2010	Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.	5
21044367	2010	An integrative method for scoring candidate genes from association studies: application to warfarin dosing.	11

Citation

Dessen P

HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64438