This region represents the proximal promoter and associated 5' regulatory elements of the hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2) gene. Activity of this sequence is stimulated by binding of nuclear receptor family members, including Nr5a1/Sf1, Nr5a2/Lrh1, Nr4a1/Nur77, and Nr1h4/Fxr. This region includes a positive regulatory element... See more...

Aliases for LOC109029530 Gene

Aliases for LOC109029530 Gene

  • HSD3B2 5' Regulatory Region 3

External Ids for LOC109029530 Gene

Summaries for LOC109029530 Gene

Entrez Gene Summary for LOC109029530 Gene

  • This region represents the proximal promoter and associated 5' regulatory elements of the hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2) gene. Activity of this sequence is stimulated by binding of nuclear receptor family members, including Nr5a1/Sf1, Nr5a2/Lrh1, Nr4a1/Nur77, and Nr1h4/Fxr. This region includes a positive regulatory element located in the first intron of this gene which is stimulated by binding of YY1 transcription factor. [provided by RefSeq, Nov 2016]

GeneCards Summary for LOC109029530 Gene

LOC109029530 (HSD3B2 5' Regulatory Region) is a Biological Region gene.

Additional gene information for LOC109029530 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC109029530 Gene

Genomics for LOC109029530 Gene

Genomic Locations for LOC109029530 Gene

Genomic Locations for LOC109029530 Gene
chr1:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC109029530 Gene

RefSeq DNA sequence for LOC109029530 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC109029530 Gene

Proteins for LOC109029530 Gene

Post-translational modifications for LOC109029530 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC109029530 Gene

Domains & Families for LOC109029530 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC109029530 Gene

Function for LOC109029530 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC109029530 Gene

Localization for LOC109029530 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 LOC109029530 Gene

Pathways & Interactions for LOC109029530 Gene

PathCards logo

SuperPathways for LOC109029530 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC109029530 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC109029530 Gene

Drugs & Compounds for LOC109029530 Gene

No Compound Related Data Available

Transcripts for LOC109029530 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC109029530 Gene

No ASD Table

No data available for mRNA/cDNA for LOC109029530 Gene

Expression for LOC109029530 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 LOC109029530 Gene

Orthologs for LOC109029530 Gene

No data available for Orthologs and Evolution for LOC109029530 Gene

Paralogs for LOC109029530 Gene

No data available for Paralogs for LOC109029530 Gene

Variants for LOC109029530 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC109029530 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs35226381 Uncertain Significance: Congenital adrenal hyperplasia 119,415,147( ) G/A INTRON_VARIANT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC109029530 Gene

Disorders for LOC109029530 Gene

No disorders were found for LOC109029530 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC109029530 Gene

Publications for LOC109029530 Gene

  1. A Dietary Medium-Chain Fatty Acid, Decanoic Acid, Inhibits Recruitment of Nur77 to the HSD3B2 Promoter In Vitro and Reverses Endocrine and Metabolic Abnormalities in a Rat Model of Polycystic Ovary Syndrome. (PMID: 26465200) Lee BH … Yong EL (Endocrinology 2016) 3 54
  2. Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model. (PMID: 23874725) Udhane S … Flück CE (PloS one 2013) 3 54
  3. Gonadal transactivation of STARD1, CYP11A1 and HSD3B. (PMID: 22201776) King SR … LaVoie HA (Frontiers in bioscience (Landmark edition) 2012) 3 54
  4. Transcriptional regulation of steroidogenic genes: STARD1, CYP11A1 and HSD3B. (PMID: 19491374) Lavoie HA … King SR (Experimental biology and medicine (Maywood, N.J.) 2009) 3 54
  5. The nuclear receptors SF1 and LRH1 are expressed in endometrial cancer cells and regulate steroidogenic gene transcription by cooperating with AP-1 factors. (PMID: 19022561) Dubé C … Tremblay JJ (Cancer letters 2009) 3 54

No data available for Mastermind for LOC109029530 Gene

Products for LOC109029530 Gene

Sources for LOC109029530 Gene