AMHR2 (anti-Mullerian hormone receptor type 2)

2003-12-01  

Identity

HGNC
AMHR2
LOCATION
12q13.13
LOCUSID
269
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
345152302022AMH and AMHR2 Involvement in Congenital Disorders of Sex Development.5
350524992022Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases.2
357137502022Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women.1
345152302022AMH and AMHR2 Involvement in Congenital Disorders of Sex Development.5
350524992022Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases.2
357137502022Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women.1
328455082021Assessment of Anti-Mullerian Hormone and Anti-Mullerian Hormone Type II Receptor Variants in Women with Repeated Implantation Failures.2
330255512021Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.3
336827412021DNA methylation of AMHRII and INSR gene is associated with the pathogenesis of Polycystic Ovary Syndrome (PCOS).6
344805312021A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome.2
328455082021Assessment of Anti-Mullerian Hormone and Anti-Mullerian Hormone Type II Receptor Variants in Women with Repeated Implantation Failures.2
330255512021Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.3
336827412021DNA methylation of AMHRII and INSR gene is associated with the pathogenesis of Polycystic Ovary Syndrome (PCOS).6
344805312021A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome.2
323337742020Mutational Analysis of the Putative Anti-Müllerian Hormone (AMH) Binding Interface on its Type II Receptor, AMHR2.8

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/css/img/humanGenome