Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 269
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol AMHR2   Gene   UCSC   Ensembl
Aliases AMHR, MISR2, MISRII MRII
Gene name anti-Mullerian hormone receptor type 2
Alternate names anti-Muellerian hormone type-2 receptor, AMH type II receptor, MIS type II receptor, Muellerian inhibiting substance type II receptor, Mullerian inhibiting substance type II receptor, anti-Muellerian hormone type II receptor, anti-Mullerian hormone receptor, ty,
Gene location 12q13.13 (53423854: 53431671)     Exons: 13     NC_000012.12
Gene summary(Entrez) 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 promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]
OMIM 600956

Protein Summary
Protein general information Q16671  

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)

Length: 573  Mass: 62,750

Sequence MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRCCFGIWNLTQDRAQVE
MQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANYSHLPPPGSPGTPGSQGPQAAPGESIWMALV
LLGLFLLLLLLLGSIILALLQRKNYRVRGEPVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVWAGQLQGK
LVAIKAFPPRSVAQFQAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLELHPKGSLCHYLTQYTSDWGS
SLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPGLTQPPAWTPTQPQGP
AAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEILSRCPDLRPDSSPPPFQLAYEAELGNTPTS
DELWALAVQERRRPYIPSTWRCFATDPDGLRELLEDCWDADPEARLTAECVQQRLAALAHPQESHPFPESCPRGC
PPLCPEDCTSIPAPTILPCRPQRSACHFSVQQGPCSRNPQPACTLSPV
Structural information
Protein Domains
 Protein (203-518)
Interpro:  IPR000472 IPR015771 IPR011009 IPR000719 IPR000333
Prosite:   PS50011

Pfam:  		 PF01064 PF00069
STRING:   ENSP00000257863;
Other Databases GeneCards:  AMHR2;  Malacards:  AMHR2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001880 Mullerian duct regression
 NAS biological_process
GO:0004702 signal transducer, downst
ream of receptor, with se
rine/threonine kinase act
ivity
 IEA molecular_function
GO:0004872 receptor activity
 IMP molecular_function
GO:0005026 transforming growth facto
r beta receptor activity,
type II
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005887 integral component of pla
sma membrane
 IEA cellular_component
GO:0007165 signal transduction
 IMP biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
 IEA biological_process
GO:0007548 sex differentiation
 ISS biological_process
GO:0007548 sex differentiation
 TAS biological_process
GO:0008584 male gonad development
 IEA biological_process
GO:0008585 female gonad development
 IEA biological_process
GO:0023014 signal transduction by pr
otein phosphorylation
 IEA biological_process
GO:0042562 hormone binding
 IPI molecular_function
GO:0046872 metal ion binding
 IEA molecular_function
GO:1902613 negative regulation of an
ti-Mullerian hormone sign
aling pathway
 IEA biological_process
GO:1990262 anti-Mullerian hormone si
gnaling pathway
 IEA biological_process
GO:1990272 anti-Mullerian hormone re
ceptor activity
 IEA molecular_function
GO:0000166 nucleotide binding
 IEA molecular_function
GO:0001880 Mullerian duct regression
 NAS biological_process
GO:0004672 protein kinase activity
 IEA molecular_function
GO:0004674 protein serine/threonine
kinase activity
 IEA molecular_function
GO:0004675 transmembrane receptor pr
otein serine/threonine ki
nase activity
 IEA molecular_function
GO:0004702 signal transducer, downst
ream of receptor, with se
rine/threonine kinase act
ivity
 IEA molecular_function
GO:0004872 receptor activity
 IMP molecular_function
GO:0005026 transforming growth facto
r beta receptor activity,
type II
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005887 integral component of pla
sma membrane
 IEA cellular_component
GO:0006468 protein phosphorylation
 IEA biological_process
GO:0007165 signal transduction
 IMP biological_process
GO:0007178 transmembrane receptor pr
otein serine/threonine ki
nase signaling pathway
 IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
 IEA biological_process
GO:0007548 sex differentiation
 IEA biological_process
GO:0007548 sex differentiation
 ISS biological_process
GO:0007548 sex differentiation
 TAS biological_process
GO:0008584 male gonad development
 IEA biological_process
GO:0008585 female gonad development
 IEA biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016301 kinase activity
 IEA molecular_function
GO:0016310 phosphorylation
 IEA biological_process
GO:0016740 transferase activity
 IEA molecular_function
GO:0023014 signal transduction by pr
otein phosphorylation
 IEA biological_process
GO:0042562 hormone binding
 IPI molecular_function
GO:0046872 metal ion binding
 IEA molecular_function
GO:1902613 negative regulation of an
ti-Mullerian hormone sign
aling pathway
 IEA biological_process
GO:1990262 anti-Mullerian hormone si
gnaling pathway
 IEA biological_process
GO:1990272 anti-Mullerian hormone re
ceptor activity
 IEA molecular_function
GO:0001880 Mullerian duct regression
 NAS biological_process
GO:0004872 receptor activity
 IMP molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0007165 signal transduction
 IMP biological_process
GO:0007548 sex differentiation
 ISS biological_process
GO:0007548 sex differentiation
 TAS biological_process
GO:0042562 hormone binding
 IPI molecular_function

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway

Diseases

Associated diseases References
Anovulation PMID: 23321213
Cancer PMID: 19064572
Congenital absence of the uterus and vagina (CAUV) PMID: 11223848
Endometriosis PMID: 24613539
Female infertility PMID: 23503941, PMID: 19539910
Male infertility PMID: 18547961
Malfunction of follicular development PMID: 24271023
Mullerian agenesis PMID: 15221321
Noonan syndrome KEGG: H00523
Ovarian hyperstimulation syndrome (OHSS) PMID: 25790842
Persistent mullerian duct syndrome PMID: 14745940
Persistent mullerian duct syndrome PMID: 8872466
Polycystic ovary syndrome (PCOS) PMID: 25012254, PMID: 12477536
Primary ovarian insufficiency (POI) PMID: 24912417
Endometriosis INFBASE24613539
Undescended testis PMID: 27162065
Unexplained infertility PMID: 19539910

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24613539 Endometrio
sis
 Brazil
 100 (55 patient
s with endometr
iosis, 45 healt
hy women)
 AMH
AMHRII
 Show abstract