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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.

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

Regulatory Elements for HSD3BP4 Gene

Enhancers for HSD3BP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G119562 0.9 Ensembl ENCODE 0.7 +0.9 855 4.2 RFX1 JUNB FOXA1 JUND ZNF341 SCRT2 CREB1 ETV6 FOS PRDM1 PHGDH ZNF697 HSD3BP4 GAPDHP33
GH01G119568 0.8 Ensembl ENCODE 0.4 +5.6 5589 1.9 ZNF366 ZNF512 CEBPB PRDM10 EGR2 PHGDH LOC101929147 HSD3BP4 GAPDHP33
GH01G119586 0.6 ENCODE 0.3 +23.6 23610 1.3 SOX13 NFIA FEZF1 ZIC2 SCRT2 SMAD4 PRDM1 PRDM4 ZXDB ZNF697 WARS2 GAPDHP33 HSD3BP4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSD3BP4 on UCSC Golden Path with GeneCards custom track

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

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

No data available for Enzyme Numbers (IUBMB) , 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 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

(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:

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 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:

HSD3BP4

SOURCE GeneReport for Unigene cluster for HSD3BP4 Gene:

Hs.681806
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

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
rs1000351269 -- 119,563,447(+) GCTCA(C/T)GTGGA upstream-variant-2KB
rs1001044038 -- 119,568,800(+) TGCTT(G/T)GGTTA nc-transcript-variant
rs1001720947 -- 119,572,613(+) AAGGG(C/G/T)GATGA downstream-variant-500B
rs1002345658 -- 119,564,202(+) GGAGG(A/C)ATTTT nc-transcript-variant
rs1002477016 -- 119,570,708(+) GTCCA(C/T)TCAAA nc-transcript-variant

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

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

Relevant External Links for HSD3BP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD3BP4

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

Disorders for HSD3BP4 Gene

Relevant External Links for HSD3BP4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD3BP4

No disorders were found for HSD3BP4 Gene.

No data available for MalaCards , 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 M.W. … Sutcliffe R.G. (Genomics 1999) 2 3 64
  2. Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase. (PMID: 7588414) Russell A.J. … Sutcliffe R.G. (Endocr. Res. 1995) 3 22 64
  3. New members of the 3 beta-hydroxysteroid dehydrogenase gene family. (PMID: 7603471) McBride M.W. … Sutcliffe R.G. (Mol. Cell. Probes 1995) 3 22 64
  4. 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) 22 64
  5. Oestrogen producing enzymes and mammary carcinogenesis: a review. (PMID: 17934808) Subramanian A. … Mokbel K. (Breast Cancer Res. Treat. 2008) 22 64

Products for HSD3BP4 Gene

Sources for HSD3BP4 Gene

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