Aliases for HSD3BP4 Gene

Aliases for HSD3BP4 Gene

  • Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta, Pseudogene 4 2 3 5
  • Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 1 Pseudogene 3
  • 3-Beta-Hydroxysteroid Dehydrogenase, Tissue-Type Heart 3
  • 3 Beta-Hydroxysteroid Dehydrogenase Homolog 3
  • HSD3BP4 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 and Adrenogenital Syndrome.

Additional gene information for HSD3BP4 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD3BP4 Gene

Genomics for HSD3BP4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSD3BP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J119562 Enhancer 0.8 Ensembl ENCODE 0.7 +3.2 3221 9 CREB1 CTCF ZNF512 RFX1 PRDM1 ZNF341 JUNB SPI1 BATF FOXA1 ZNF697 PHGDH WARS2-AS1 HSD3BP4 GAPDHP33 lnc-ZNF697-3 HSD3B1
GH01J119586 Enhancer 0.7 Ensembl ENCODE 0.4 +22.1 22089 4.3 PRDM1 ZIC2 SCRT2 ZXDB ESR1 PRDM4 SMAD4 FEZF1 NFIA ZNF697 PHGDH WARS2 GAPDHP33 lnc-ZNF697-3 HSD3BP4 HSD3B1
GH01J119582 Enhancer 0.6 Ensembl 0.4 +19.3 19289 0.9 CREB1 CTCF RAD21 HMBOX1 ZNF217 ZNF335 SMC3 ZNF654 CREM TRIM22 GAPDHP33 HSD3BP4 lnc-ZNF697-3 ZNF697 HSD3B1
GH01J119593 Enhancer 0.4 Ensembl 0.3 +30.5 30526 1.6 CUX1 SPI1 HNF4A ZNF697 PHGDH GAPDHP33 lnc-ZNF697-3 HSD3BP4 HSD3B1
GH01J119589 Enhancer 0.3 Ensembl 0.3 +27.0 27021 1.8 SP1 HNF4A ZNF697 WARS2 GAPDHP33 lnc-ZNF697-3 HSD3BP4 HSD3B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD3BP4 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for HSD3BP4 Gene

Genomic Locations for HSD3BP4 Gene
chr1:119,563,880-119,572,576
(GRCh38/hg38)
Size:
8,697 bases
Orientation:
Plus strand
chr1:120,106,503-120,115,199
(GRCh37/hg19)
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

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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
genes like me logo Genes that share phenotypes with HSD3BP4: view

Animal Model Products

CRISPR 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

PathCards logo

SuperPathways for HSD3BP4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HSD3BP4 Gene

None

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

Drugs & Compounds for HSD3BP4 Gene

(26) Drugs for HSD3BP4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(19) 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

1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

No ASD Table

Relevant External Links for HSD3BP4 Gene

GeneLoc Exon Structure for
HSD3BP4

Expression for HSD3BP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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

Additional Variant Information for HSD3BP4 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) and Variation tolerance for HSD3BP4 Gene

Disorders for HSD3BP4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HSD3BP4 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
3-beta-hydroxysteroid dehydrogenase deficiency
  • adrenal hyperplasia ii
adrenogenital syndrome
leydig cell tumor
  • leydig cell neoplasm
lipoid congenital adrenal hyperplasia
  • lcah
pseudohermaphroditism
  • indeterminate sex and pseudohermaphroditism
- 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
  2. Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase. (PMID: 7588414) Russell AJ … Sutcliffe RG (Endocrine research 1995) 3 23
  3. New members of the 3 beta-hydroxysteroid dehydrogenase gene family. (PMID: 7603471) McBride MW … Sutcliffe RG (Molecular and cellular probes 1995) 3 23
  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) 23
  5. Oestrogen producing enzymes and mammary carcinogenesis: a review. (PMID: 17934808) Subramanian A … Mokbel K (Breast cancer research and treatment 2008) 23

Products for HSD3BP4 Gene

Sources for HSD3BP4 Gene