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Aliases for HSD3BP4 Gene

Aliases for HSD3BP4 Gene

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

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 3-Beta-Hydroxysteroid Dehydrogenase Deficiency.

Additional gene information for HSD3BP4 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for HSD3BP4 Gene

Promoters and enhancers for HSD3BP4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I119562 Enhancer 0.8 Ensembl ENCODE 550.8 +0.9 855 4.2 RFX1 JUNB BATF FOXA1 JUND ZNF341 CREB1 FOS ETV6 PRDM1 HSD3BP4 PHGDH ZNF697 GAPDHP33
GH01I119568 Enhancer 0.7 Ensembl ENCODE 0.4 +5.6 5588 1.9 CTCF ZNF366 ZNF512 CEBPB PHGDH LOC101929147 HSD3BP4 GAPDHP33
GH01I119586 Enhancer 0.6 ENCODE 0.3 +23.6 23610 1.3 SOX13 NFIA FEZF1 ZIC2 SKI SCRT2 SMAD4 PRDM1 PRDM4 ZXDB ZNF697 WARS2 GAPDHP33 HSD3BP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSD3BP4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for HSD3BP4 Gene

Genomic Locations for HSD3BP4 Gene
8,697 bases
Plus strand

Genomic View for HSD3BP4 Gene

Genes around HSD3BP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD3BP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD3BP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Phenotypes for HSD3BP4 Gene

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

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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 , Subcellular locations from the Human Protein Atlas (HPA) 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


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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of HSD3BP4 Gene:


SOURCE GeneReport for Unigene cluster for HSD3BP4 Gene:

genes like me logo Genes that share expression patterns with HSD3BP4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 Variation AA Info Type
rs1000351269 -- 119,563,447(+) T/C upstream_transcript_variant
rs1001044038 -- 119,568,800(+) T/G non_coding_transcript_variant
rs1001720947 -- 119,572,613(+) C/G/T downstream_transcript_variant
rs1002345658 -- 119,564,202(+) A/C non_coding_transcript_variant
rs1002477016 -- 119,570,708(+) C/T non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv999314 CNV gain 25217958
nsv946186 CNV duplication 23825009
nsv818400 CNV gain 17921354
nsv547617 CNV loss 21841781
nsv547616 CNV loss 21841781
nsv524681 CNV gain 19592680
nsv520283 CNV gain 19592680
nsv515644 CNV gain+loss 19592680
nsv470734 CNV gain 18288195
nsv463317 CNV gain 19166990
nsv463306 CNV loss 19166990
nsv441711 CNV gain+loss 18776908
nsv1161491 CNV duplication 26073780
nsv1161490 CNV duplication 26073780
nsv1161489 CNV duplication 26073780
nsv1113160 CNV deletion 24896259
nsv1004662 CNV gain 25217958
esv5682 CNV loss 19470904
esv3587347 CNV gain 21293372
esv3587346 CNV loss 21293372
esv3568120 CNV gain 25503493
esv2764231 CNV loss 21179565
esv2763647 CNV gain+loss 21179565
esv2758964 CNV gain+loss 17122850
esv2716807 CNV deletion 23290073
esv2716784 CNV deletion 23290073
esv2600511 CNV deletion 19546169
esv23971 CNV loss 19812545
dgv65e199 CNV deletion 23128226
dgv524n54 CNV gain 21841781
dgv32e201 CNV deletion 23290073
dgv304n100 CNV gain 25217958
dgv303n100 CNV gain+loss 25217958
dgv302n100 CNV loss 25217958
dgv301n100 CNV loss 25217958
dgv300n100 CNV loss 25217958

Additional Variant Information for HSD3BP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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
3-beta-hydroxysteroid dehydrogenase deficiency
  • 3-beta-hsd deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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. Cloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human. (PMID: 10552929) McBride MW … Sutcliffe RG (Genomics 1999) 2 3 58
  2. Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase. (PMID: 7588414) Russell AJ … Sutcliffe RG (Endocrine research 1995) 3 22 58
  3. New members of the 3 beta-hydroxysteroid dehydrogenase gene family. (PMID: 7603471) McBride MW … Sutcliffe RG (Molecular and cellular probes 1995) 3 22 58
  4. Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain. (PMID: 19197249) Tripodi G … Manunta P (American journal of hypertension 2009) 22 58
  5. Oestrogen producing enzymes and mammary carcinogenesis: a review. (PMID: 17934808) Subramanian A … Mokbel K (Breast cancer research and treatment 2008) 22 58

Products for HSD3BP4 Gene

Sources for HSD3BP4 Gene

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