ENSG00000104899


Homo sapiens

Features
Gene ID: ENSG00000104899
  
Biological name :AMH
  
Synonyms : AMH / anti-Mullerian hormone / P03971
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.3
Gene start: 2249309
Gene end: 2252073
  
Corresponding Affymetrix probe sets: 206516_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000221496
NCBI entrez gene - 268     See in Manteia.
OMIM - 600957
RefSeq - NM_000479
RefSeq Peptide - NP_000470
swissprot - P03971
Ensembl - ENSG00000104899
  
Related genetic diseases (OMIM): 261550 - Persistent Mullerian duct syndrome, type I, 261550
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 amhENSDARG00000014357Danio rerio
 AMHENSGALG00000036346Gallus gallus
 AmhENSMUSG00000035262Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001839  Transforming growth factor-beta, C-terminal
 IPR006799  Anti-Mullerian hormone, N-terminal
 IPR017948  Transforming growth factor beta, conserved site
 IPR021203  Muellerian-inhibiting factor
 IPR029034  Cystine-knot cytokine


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001546 preantral ovarian follicle growth IEA
 biological_processGO:0001655 urogenital system development IEA
 biological_processGO:0001880 Mullerian duct regression NAS
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0007506 gonadal mesoderm development IEA
 biological_processGO:0007530 sex determination TAS
 biological_processGO:0007548 sex differentiation TAS
 biological_processGO:0007568 aging IEA
 biological_processGO:0008406 gonad development IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030509 BMP signaling pathway TAS
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:2000355 negative regulation of ovarian follicle development IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005160 transforming growth factor beta receptor binding IEA
 molecular_functionGO:0005179 hormone activity TAS
 molecular_functionGO:0008083 growth factor activity IEA


Pathways (from Reactome)
Pathway description
Signaling by BMP


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000022 Abnormality of male internal genitalia 
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 HP:0000023 Inguinal hernia 
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000037 Male pseudohermaphroditism "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators]
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 HP:0003117 Abnormal endocrinological laboratory findings 
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 HP:0003251 Male infertility 
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 HP:0008689 Bilateral cryptorchidism 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000135409 AMHR2 / Q16671 / anti-Mullerian hormone receptor type 2  / reaction / complex
 ENSG00000104899 AMH / P03971 / anti-Mullerian hormone  / complex






 

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