Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HSD3BP4 Gene

Aliases for HSD3BP4 Gene

  • Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta, Pseudogene 4 2 3

External Ids for HSD3BP4 Gene

Previous GeneCards Identifiers for HSD3BP4 Gene

  • GC01U990089
  • GC01P120106

Summaries for HSD3BP4 Gene

GeneCards Summary for HSD3BP4 Gene

HSD3BP4 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta, Pseudogene 4) is a Pseudogene. Diseases associated with HSD3BP4 include late-onset congenital adrenal hyperplasia and oligomenorrhea.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD3BP4 Gene

Genomics for HSD3BP4 Gene

Genomic Location for HSD3BP4 Gene

119,563,880 bp from pter
119,572,576 bp from pter
8,697 bases
Plus strand

Genomic View for HSD3BP4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HSD3BP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD3BP4 Gene

No data available for Regulatory Elements for HSD3BP4 Gene

Proteins for HSD3BP4 Gene

Post-translational modifications for HSD3BP4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for HSD3BP4 Gene

Domains for HSD3BP4 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for HSD3BP4 Gene

Function for HSD3BP4 Gene

Molecular function for HSD3BP4 Gene

GENATLAS Biochemistry:
hydroxysteroid 3-beta dehydrogenase/steroid delta 5-delta 4 isomerase, pseudogene 4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HSD3BP4 Gene

Localization for HSD3BP4 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for HSD3BP4 Gene

Pathways for HSD3BP4 Gene

SuperPathways for HSD3BP4 Gene

No Data Available

Interacting Proteins for HSD3BP4 Gene

Gene Ontology (GO) - Biological Process for HSD3BP4 Gene


No data available for Pathways by source for HSD3BP4 Gene

Drugs for HSD3BP4 Gene

(45) Novoseek inferred chemical compound relationships for HSD3BP4 Gene

Compound -log(P) Hits PubMed IDs
3beta-hydroxysteroid 98.8 174
17-hydroxypregnenolone 92.1 6
dhea 85.6 16
trilostane 84.7 9
17-hydroxyprogesterone 84 3
genes like me logo Genes that share compounds with HSD3BP4: view

Transcripts for HSD3BP4 Gene

mRNA/cDNA for HSD3BP4 Gene

(2) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HSD3BP4 Gene

Hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HSD3BP4 Gene

No ASD Table

Relevant External Links for HSD3BP4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HSD3BP4 Gene

mRNA expression in normal human tissues for HSD3BP4 Gene

mRNA differential expression in normal tissues according to GTEx for HSD3BP4 Gene

This gene is overexpressed in Heart - Atrial Appendage (5.1).

SOURCE GeneReport for Unigene cluster for HSD3BP4 Gene Hs.681806

genes like me logo Genes that share expressions with HSD3BP4: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Expression partners for HSD3BP4 Gene

Orthologs for HSD3BP4 Gene

Evolution for HSD3BP4 Gene

Gene Tree for HSD3BP4 (if available)
Gene Tree for HSD3BP4 (if available)

No data available for Orthologs for HSD3BP4 Gene

Paralogs for HSD3BP4 Gene

No data available for Paralogs for HSD3BP4 Gene

Variants for HSD3BP4 Gene

Sequence variations from dbSNP and Humsavar for HSD3BP4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs384125 -- 119,570,759(+) CATTT(A/C)AGAGT nc-transcript-variant
rs392532 -- 119,566,346(+) ACAGC(C/T)AGGCC nc-transcript-variant
rs406737 -- 119,569,050(+) tgtGT(G/T)CCTCC nc-transcript-variant
rs411346 -- 119,567,106(+) CCTAC(A/T)TCACA nc-transcript-variant
rs415630 -- 119,570,169(+) CCAAG(A/G)CTTAG nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for HSD3BP4 Gene

Variant ID Type Subtype PubMed ID
nsv524681 CNV Gain 19592680
esv2716784 CNV Deletion 23290073
dgv90e1 CNV Complex 17122850
esv5682 CNV Loss 19470904
dgv42e201 CNV Deletion 23290073
nsv470734 CNV Gain 18288195
nsv520283 CNV Gain 19592680
nsv818400 CNV Gain 17921354
dgv334n71 CNV Gain 21882294
dgv335n71 CNV Gain 21882294
dgv91e1 CNV Complex 17122850
nsv872176 CNV Loss 21882294
esv2600511 CNV Deletion 19546169
esv23971 CNV Loss 19812545
nsv463306 CNV Loss 19166990
nsv463317 CNV Gain 19166990
dgv65e199 CNV Deletion 23128226
dgv92e1 CNV Complex 17122850
nsv515644 CNV Gain+Loss 19592680
nsv872178 CNV Gain 21882294
esv2716807 CNV Deletion 23290073
nsv441711 CNV CNV 18776908

Relevant External Links for HSD3BP4 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD3BP4 Gene

Disorders for HSD3BP4 Gene

(26) Novoseek inferred disease relationships for HSD3BP4 Gene

Disease -log(P) Hits PubMed IDs
adrenal hyperplasia congenital 84.3 22
pseudohermaphroditism male 70.4 2
hyperandrogenism 65.9 8
virilization 63.4 2
adenoma adrenocortical 60.2 2
genes like me logo Genes that share disorders with HSD3BP4: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Genatlas and External Links for HSD3BP4 Gene

Publications for HSD3BP4 Gene

  1. Cloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human. (PMID: 10552929) McBride M.W. … Sutcliffe R.G. (Genomics 1999) 2 3
  2. Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase. (PMID: 7588414) Russell A.J. … Sutcliffe R.G. (Endocr. Res. 1995) 3 23
  3. New members of the 3 beta-hydroxysteroid dehydrogenase gene family. (PMID: 7603471) McBride M.W. … Sutcliffe R.G. (Mol. Cell. Probes 1995) 3 23
  4. Young female patient with testosterone-producing adrenocortical adenoma also showing signs of subclinical Cushing's syndrome. (PMID: 7627274) Murakami Y. … Kato Y. (Endocr. J. 1995) 23
  5. A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. (PMID: 7633426) Katsumata N. … Hibi I. (Hum. Mol. Genet. 1995) 23

Products for HSD3BP4 Gene

Sources for HSD3BP4 Gene

Back to Top