AMHR2 (anti-Mullerian hormone receptor type 2)

2003-12-01  

Identity

HGNC
LOCATION
12q13.13
LOCUSID
ALIAS
AMHR,MISR2,MISRII,MRII

Other Information

Locus ID:

NCBI: 269
MIM: 600956
HGNC: 465
Ensembl: ENSG00000135409

Variants:

dbSNP: 269
ClinVar: 269
TCGA: ENSG00000135409
COSMIC: AMHR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135409ENST00000257863Q16671
ENSG00000135409ENST00000379791Q16671
ENSG00000135409ENST00000550311Q16671
ENSG00000135409ENST00000550839H3BPI9

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
TGF-beta signaling pathwayKEGGko04350
Cytokine-cytokine receptor interactionKEGGhsa04060
TGF-beta signaling pathwayKEGGhsa04350
BMP signalingKEGGhsa_M00679
BMP signalingKEGGM00679

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPKPD24853734, 29352482
PA450395metforminChemicalClinicalAnnotationassociatedPKPD24853734, 29352482

References

Pubmed IDYearTitleCitations
115881472001Müllerian inhibiting substance: an instructive developmental hormone with diagnostic and possible therapeutic applications.71
267537902016Novel role for anti-Müllerian hormone in the regulation of GnRH neuron excitability and hormone secretion.57
186978612008Anti-Mullerian hormone, its receptor, FSH receptor, and androgen receptor genes are overexpressed by granulosa cells from stimulated follicles in women with polycystic ovary syndrome.46
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
179887232008Müllerian inhibiting substance type II receptor (MISIIR): a novel, tissue-specific target expressed by gynecologic cancers.25
173374702007Anti-Müllerian hormone and anti-Müllerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women.24
173374702007Anti-Müllerian hormone and anti-Müllerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women.24
233212132013Loss of LH-induced down-regulation of anti-Müllerian hormone receptor expression may contribute to anovulation in women with polycystic ovary syndrome.22
208612212010Processing of anti-mullerian hormone regulates receptor activation by a mechanism distinct from TGF-beta.21
176362792007A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity.19

Citation

Dessen P

AMHR2 (anti-Mullerian hormone receptor type 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/629/amhr2