AMHR2 (anti-Mullerian hormone receptor type 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
269
Gene name Gene Name - the full gene name approved by the HGNC.
Anti-Mullerian hormone receptor type 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AMHR2
Synonyms (NCBI Gene) Gene synonyms aliases
AMHR, MISR2, MISRII, MRII
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promot
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs137853104 G>A Pathogenic Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs374247138 C>T Likely-pathogenic Non coding transcript variant, missense variant, synonymous variant, intron variant, coding sequence variant
rs374601719 G>A,C Likely-pathogenic Non coding transcript variant, missense variant, stop gained, intron variant, coding sequence variant
rs781745214 C>T Pathogenic Intron variant, stop gained, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT017356 hsa-miR-335-5p Microarray 18185580
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
APC Repression 12724325
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(36)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001880 Process Mullerian duct regression NAS 14750901
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004675 Function Transmembrane receptor protein serine/threonine kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600956 465 ENSG00000135409
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q16671
Protein name Anti-Muellerian hormone type-2 receptor (EC 2.7.11.30) (Anti-Muellerian hormone type II receptor) (AMH type II receptor) (MIS type II receptor) (MISRII) (MRII)
Protein function On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD trans
PDB 7L0J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01064 Activin_recp 46 → 120 Activin types I and II receptor domain Domain
PF00069 Pkinase 205 → 505 Protein kinase domain Domain
Sequence
Sequence length 573
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
Hormone signaling
TGF-beta signaling pathway 		  Signaling by BMP
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
persistent mullerian duct syndrome Persistent Mullerian duct syndrome rs764761319, rs781745214 N/A
Persistent Mullerian Duct Syndrome persistent mullerian duct syndrome, type ii rs763798144, rs764761319, rs1939497801, rs137853104 N/A
Show/Hide Text Mining Associations (25)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 31184456
Androgen Insensitivity Syndrome Associate 20971460
Anxiety Associate 31121870
Azoospermia Associate 34480531
Breast Neoplasms Associate 29851788
Carcinoma Ovarian Epithelial Associate 26917267
Cardiovascular Diseases Associate 31121870
Cryptorchidism Associate 31184456, 35052499
Disorders of Sex Development Associate 35432193
Endometrial Neoplasms Associate 25760378