This record represents the 5' regulatory region of the anti-Mullerian hormone (AMH) gene and includes the proximal promoter as well as more distal regulatory elements. The proximal promoter is regulated by binding of nuclear receptor subfamily 5 group A member 1 (Nr5a1/Sf1) to a conserved recognition site. SRY-box 9, sex determining region Y, forkhead box L2, and GATA binding p... See more...

Aliases for LOC108783649 Gene

Aliases for LOC108783649 Gene

  • AMH 5' Regulatory Region 3

External Ids for LOC108783649 Gene

Summaries for LOC108783649 Gene

Entrez Gene Summary for LOC108783649 Gene

  • This record represents the 5' regulatory region of the anti-Mullerian hormone (AMH) gene and includes the proximal promoter as well as more distal regulatory elements. The proximal promoter is regulated by binding of nuclear receptor subfamily 5 group A member 1 (Nr5a1/Sf1) to a conserved recognition site. SRY-box 9, sex determining region Y, forkhead box L2, and GATA binding protein 4 may synergize with Nr5a1/Sf1 to increase gene expression, while binding by Wilms tumor 1 results in repression of activity. This region is stimulated by signalling by bone morphogenetic proteins, vitamin D, estrogen, and protein kinase A/cyclic AMP. [provided by RefSeq, Sep 2016]

GeneCards Summary for LOC108783649 Gene

LOC108783649 (AMH 5' Regulatory Region) is a Biological Region gene. Diseases associated with LOC108783649 include Wilms Tumor 1.

Additional gene information for LOC108783649 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 LOC108783649 Gene

Genomics for LOC108783649 Gene

Genomic Locations for LOC108783649 Gene

Genomic Locations for LOC108783649 Gene
chr19:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC108783649 Gene

RefSeq DNA sequence for LOC108783649 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC108783649 Gene

Proteins for LOC108783649 Gene

Post-translational modifications for LOC108783649 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108783649 Gene

Domains & Families for LOC108783649 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC108783649 Gene

Function for LOC108783649 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 LOC108783649 Gene

Localization for LOC108783649 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 LOC108783649 Gene

Pathways & Interactions for LOC108783649 Gene

PathCards logo

SuperPathways for LOC108783649 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for LOC108783649 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC108783649 Gene

Drugs & Compounds for LOC108783649 Gene

No Compound Related Data Available

Transcripts for LOC108783649 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108783649 Gene

No ASD Table

No data available for mRNA/cDNA for LOC108783649 Gene

Expression for LOC108783649 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 LOC108783649 Gene

Orthologs for LOC108783649 Gene

No data available for Orthologs and Evolution for LOC108783649 Gene

Paralogs for LOC108783649 Gene

No data available for Paralogs for LOC108783649 Gene

Variants for LOC108783649 Gene

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) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC108783649 Gene

Disorders for LOC108783649 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC108783649 Gene - From: GeneCards

Disorder Aliases PubMed IDs
wilms tumor 1
  • wt1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC108783649: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108783649 Gene

Publications for LOC108783649 Gene

  1. The Bone Morphogenetic Protein 15 Up-Regulates the Anti-Müllerian Hormone Receptor Expression in Granulosa Cells. (PMID: 27070094) Pierre A … di Clemente N (The Journal of clinical endocrinology and metabolism 2016) 3 54
  2. FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells. (PMID: 27414805) Jin H … Bae J (PloS one 2016) 3 54
  3. Positive cross talk between FOXL2 and antimüllerian hormone regulates ovarian reserve. (PMID: 24973035) Park M … Bae J (Fertility and sterility 2014) 3 54
  4. Follicle-stimulating hormone suppressed excessive production of antimullerian hormone caused by abnormally enhanced promoter activity in polycystic ovary syndrome granulosa cells. (PMID: 21514585) Li Y … Liang XY (Fertility and sterility 2011) 3 54
  5. Loss-of-function mutation in GATA4 causes anomalies of human testicular development. (PMID: 21220346) Lourenço D … Bashamboo A (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 54

No data available for Mastermind for LOC108783649 Gene

Products for LOC108783649 Gene

Sources for LOC108783649 Gene