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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 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency.

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

Chromosome:
1
Start:
119,563,880 bp from pter
End:
119,572,576 bp from pter
Size:
8,697 bases
Orientation:
Plus strand

Genomic View for HSD3BP4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene 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 & Families 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 & Interactions for HSD3BP4 Gene

SuperPathways for HSD3BP4 Gene

No Data Available

Interacting Proteins for HSD3BP4 Gene

Gene Ontology (GO) - Biological Process for HSD3BP4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HSD3BP4 Gene

Drugs & Compounds for HSD3BP4 Gene

(24) Drugs for HSD3BP4 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational Pharma Agonist 1806
Estradiol Approved, Investigational Pharma Sex hormone 1057
Estrone Approved Pharma Agonist Estrogenic hormone 18
Ketoconazole Approved, Investigational Pharma Pore Blocker Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor 171
Mifepristone Approved, Investigational Pharma Antagonist Progesterone receptor antagonist, Progesterone and glucocorticoid receptor antagonist 132

(21) Additional Compounds for HSD3BP4 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11beta-Hydroxysteroid
17beta-Hydroxysteroid
17-hydroxypregnenolone
17-Hydroxyprogesterone
  • 17-alpha-Hydroxyprogesterone
  • 17-Hydroxypregn-4-ene-3,20-dione
  • 17-Hydroxyprogesterone
  • 17-OH Progesterone
  • 17-OHP
68-96-2
3alpha-Hydroxysteroid
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
HSD3BP4
ECgene alternative splicing isoforms for
HSD3BP4

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 (x5.1).

SOURCE GeneReport for Unigene cluster for HSD3BP4 Gene Hs.681806

genes like me logo Genes that share expression patterns 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 Protein tissue co-expression partners for HSD3BP4 Gene

Orthologs for HSD3BP4 Gene

Evolution for HSD3BP4 Gene

ENSEMBL:
Gene Tree for HSD3BP4 (if available)
TreeFam:
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
HSD3BP4

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

Disorders for HSD3BP4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HSD3BP4 Gene - From: GeneCards

Disorder Aliases PubMed IDs
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
  • cah due to 3-beta-hydroxysteroid dehydrogenase deficiency
- elite association

Relevant External Links for HSD3BP4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD3BP4
genes like me logo Genes that share disorders with HSD3BP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSD3BP4 Gene

Publications for HSD3BP4 Gene

  1. Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain. (PMID: 19197249) Tripodi G. … Manunta P. (Am. J. Hypertens. 2009) 23 67
  2. Oestrogen producing enzymes and mammary carcinogenesis: a review. (PMID: 17934808) Subramanian A. … Mokbel K. (Breast Cancer Res. Treat. 2008) 23 67
  3. In vitro effect of dehydroepiandrosterone sulfate on steroid receptors, aromatase, cyclooxygenase-2 expression, and steroid hormone production in preovulatory human granulosa cells. (PMID: 17548088) ElBeltagy K. … Ishiko O. (Fertil. Steril. 2007) 23 67
  4. Ontogeny of 3 beta-hydroxysteroid dehydrogenase and 5 alpha-reductase in the frog brain. (PMID: 15891098) Vallarino M. … Vaudry H. (Ann. N. Y. Acad. Sci. 2005) 23 67
  5. Hormonally active nontransformed human ovarian cell culture from oophorectomy specimens: methods of development and initial characterization. (PMID: 16260896) Seto-Young D. … Poretsky L. (Horm. Res. 2005) 23 67

Products for HSD3BP4 Gene

Sources for HSD3BP4 Gene

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