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Protein

Anti-Muellerian hormone type-2 receptor

Gene

AMHR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 transcriptional regulators. Receptor for anti-Muellerian hormone.

Catalytic activityi

ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.

Cofactori

Mg2+By similarity, Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei230ATPPROSITE-ProRule annotation1
Active sitei333Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi209 – 217ATPPROSITE-ProRule annotation9

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Kinase, Receptor, Serine/threonine-protein kinase, Transferase

Keywords - Ligandi

ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS05999-MONOMER.
BRENDAi2.7.10.2. 2681.
SignaLinkiQ16671.
SIGNORiQ16671.

Names & Taxonomyi

Protein namesi
Recommended name:
Anti-Muellerian hormone type-2 receptor (EC:2.7.11.30)
Alternative name(s):
Anti-Muellerian hormone type II receptor
Short name:
AMH type II receptor
MIS type II receptor
Short name:
MISRII
Short name:
MRII
Gene namesi
Name:AMHR2
Synonyms:AMHR, MISR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:465. AMHR2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini18 – 149ExtracellularSequence analysisAdd BLAST132
Transmembranei150 – 170HelicalSequence analysisAdd BLAST21
Topological domaini171 – 573CytoplasmicSequence analysisAdd BLAST403

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Persistent Muellerian duct syndrome 2 (PMDS2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
See also OMIM:261550
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01552554R → C in PMDS2. 1 PublicationCorresponds to variant rs534999427dbSNPEnsembl.1
Natural variantiVAR_015526142G → V in PMDS2. 1 Publication1
Natural variantiVAR_015527282H → Q in PMDS2. 1 PublicationCorresponds to variant rs539695176dbSNPEnsembl.1
Natural variantiVAR_015528406R → Q in PMDS2. 1 PublicationCorresponds to variant rs137853104dbSNPEnsembl.1
Natural variantiVAR_015529426D → G in PMDS2. 1 Publication1
Natural variantiVAR_031057444 – 452Missing in PMDS2. 1 Publication9
Natural variantiVAR_015530458V → A in PMDS2. 1 PublicationCorresponds to variant rs775889926dbSNPEnsembl.1
Natural variantiVAR_015531491D → H in PMDS2. 1 PublicationCorresponds to variant rs780680518dbSNPEnsembl.1
Natural variantiVAR_015532504R → C in PMDS2. 1 PublicationCorresponds to variant rs772294564dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

DisGeNETi269.
MalaCardsiAMHR2.
MIMi261550. phenotype.
OpenTargetsiENSG00000135409.
Orphaneti2856. Persistent Mullerian duct syndrome.
PharmGKBiPA24770.

Chemistry databases

DrugBankiDB00171. Adenosine triphosphate.

Polymorphism and mutation databases

BioMutaiAMHR2.
DMDMi9087133.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 17Sequence analysisAdd BLAST17
ChainiPRO_000002440818 – 573Anti-Muellerian hormone type-2 receptorAdd BLAST556

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi55 ↔ 79By similarity
Glycosylationi66N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi92 ↔ 109By similarity
Glycosylationi119N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ16671.
PeptideAtlasiQ16671.
PRIDEiQ16671.

PTM databases

iPTMnetiQ16671.
PhosphoSitePlusiQ16671.

Expressioni

Gene expression databases

BgeeiENSG00000135409.
CleanExiHS_AMHR2.
ExpressionAtlasiQ16671. baseline and differential.
GenevisibleiQ16671. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
HSP90AB1P082382EBI-6423788,EBI-352572

Protein-protein interaction databases

BioGridi106766. 2 interactors.
IntActiQ16671. 4 interactors.
STRINGi9606.ENSP00000257863.

Structurei

3D structure databases

ProteinModelPortaliQ16671.
SMRiQ16671.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini203 – 518Protein kinasePROSITE-ProRule annotationAdd BLAST316

Sequence similaritiesi

Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3653. Eukaryota.
ENOG410XS2Z. LUCA.
GeneTreeiENSGT00860000133897.
HOGENOMiHOG000033920.
HOVERGENiHBG097461.
InParanoidiQ16671.
KOiK04672.
OMAiCNANYSH.
OrthoDBiEOG091G05X7.
PhylomeDBiQ16671.
TreeFamiTF314724.

Family and domain databases

InterProiIPR000472. Activin_recp.
IPR015771. Anti-muellerian_hrmn_rcpt_II.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR000333. TGFB_receptor.
[Graphical view]
PANTHERiPTHR23255. PTHR23255. 1 hit.
PfamiPF01064. Activin_recp. 1 hit.
PF00069. Pkinase. 1 hit.
[Graphical view]
PIRSFiPIRSF037392. AMHRII. 1 hit.
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q16671-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLGSLGLWAL LPTAVEAPPN RRTCVFFEAP GVRGSTKTLG ELLDTGTELP
60 70 80 90 100
RAIRCLYSRC CFGIWNLTQD RAQVEMQGCR DSDEPGCESL HCDPSPRAHP
110 120 130 140 150
SPGSTLFTCS CGTDFCNANY SHLPPPGSPG TPGSQGPQAA PGESIWMALV
160 170 180 190 200
LLGLFLLLLL LLGSIILALL QRKNYRVRGE PVPEPRPDSG RDWSVELQEL
210 220 230 240 250
PELCFSQVIR EGGHAVVWAG QLQGKLVAIK AFPPRSVAQF QAERALYELP
260 270 280 290 300
GLQHDHIVRF ITASRGGPGR LLSGPLLVLE LHPKGSLCHY LTQYTSDWGS
310 320 330 340 350
SLRMALSLAQ GLAFLHEERW QNGQYKPGIA HRDLSSQNVL IREDGSCAIG
360 370 380 390 400
DLGLALVLPG LTQPPAWTPT QPQGPAAIME AGTQRYMAPE LLDKTLDLQD
410 420 430 440 450
WGMALRRADI YSLALLLWEI LSRCPDLRPD SSPPPFQLAY EAELGNTPTS
460 470 480 490 500
DELWALAVQE RRRPYIPSTW RCFATDPDGL RELLEDCWDA DPEARLTAEC
510 520 530 540 550
VQQRLAALAH PQESHPFPES CPRGCPPLCP EDCTSIPAPT ILPCRPQRSA
560 570
CHFSVQQGPC SRNPQPACTL SPV
Length:573
Mass (Da):62,750
Last modified:November 1, 1996 - v1
Checksum:i1347C10C2942FDBA
GO
Isoform 2 (identifier: Q16671-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     430-573: DSSPPPFQLA...PQPACTLSPV → AVHHPSNWPM...GAALPQTLMG

Note: No experimental confirmation available.
Show »
Length:478
Mass (Da):52,241
Checksum:iADCA1BB6AC850665
GO
Isoform 3 (identifier: Q16671-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     381-475: Missing.

Show »
Length:478
Mass (Da):51,827
Checksum:iC0FA484B50E52A97
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti121S → N in AAU21221 (Ref. 4) Curated1
Sequence conflicti161L → V in CAA62593 (PubMed:7488027).Curated1
Sequence conflicti501V → A in AAU21221 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01552554R → C in PMDS2. 1 PublicationCorresponds to variant rs534999427dbSNPEnsembl.1
Natural variantiVAR_015526142G → V in PMDS2. 1 Publication1
Natural variantiVAR_015527282H → Q in PMDS2. 1 PublicationCorresponds to variant rs539695176dbSNPEnsembl.1
Natural variantiVAR_069048319R → H.1 PublicationCorresponds to variant rs144236183dbSNPEnsembl.1
Natural variantiVAR_015528406R → Q in PMDS2. 1 PublicationCorresponds to variant rs137853104dbSNPEnsembl.1
Natural variantiVAR_015529426D → G in PMDS2. 1 Publication1
Natural variantiVAR_031057444 – 452Missing in PMDS2. 1 Publication9
Natural variantiVAR_015530458V → A in PMDS2. 1 PublicationCorresponds to variant rs775889926dbSNPEnsembl.1
Natural variantiVAR_015531491D → H in PMDS2. 1 PublicationCorresponds to variant rs780680518dbSNPEnsembl.1
Natural variantiVAR_015532504R → C in PMDS2. 1 PublicationCorresponds to variant rs772294564dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045281381 – 475Missing in isoform 3. 1 PublicationAdd BLAST95
Alternative sequenceiVSP_044548430 – 573DSSPP…TLSPV → AVHHPSNWPMRQNWAIPLPL MSYGPWQCRRGGVPTSHPPG AALPQTLMG in isoform 2. 1 PublicationAdd BLAST144

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X89013 Genomic DNA. Translation: CAA61418.1.
U29700 Genomic DNA. Translation: AAC50328.1.
X91156
, X91157, X91158, X91159, X91160, X91161, X91162, X91163, X91164, X91165, X91166 Genomic DNA. Translation: CAA62593.1.
AF172932 mRNA. Translation: AAD48497.1.
AY714878 mRNA. Translation: AAU21221.1.
AK313593 mRNA. No translation available.
AC068889 Genomic DNA. No translation available.
BC126316 mRNA. Translation: AAI26317.1.
BC136356 mRNA. Translation: AAI36357.1.
CCDSiCCDS53798.1. [Q16671-3]
CCDS55829.1. [Q16671-2]
CCDS8858.1. [Q16671-1]
PIRiJC4335.
RefSeqiNP_001158162.1. NM_001164690.1. [Q16671-2]
NP_001158163.1. NM_001164691.1. [Q16671-3]
NP_065434.1. NM_020547.2. [Q16671-1]
UniGeneiHs.659889.

Genome annotation databases

EnsembliENST00000257863; ENSP00000257863; ENSG00000135409. [Q16671-1]
ENST00000379791; ENSP00000369117; ENSG00000135409. [Q16671-3]
ENST00000550311; ENSP00000446661; ENSG00000135409. [Q16671-2]
GeneIDi269.
KEGGihsa:269.
UCSCiuc001scx.2. human. [Q16671-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Anti-Mullerian hormone entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X89013 Genomic DNA. Translation: CAA61418.1.
U29700 Genomic DNA. Translation: AAC50328.1.
X91156
, X91157, X91158, X91159, X91160, X91161, X91162, X91163, X91164, X91165, X91166 Genomic DNA. Translation: CAA62593.1.
AF172932 mRNA. Translation: AAD48497.1.
AY714878 mRNA. Translation: AAU21221.1.
AK313593 mRNA. No translation available.
AC068889 Genomic DNA. No translation available.
BC126316 mRNA. Translation: AAI26317.1.
BC136356 mRNA. Translation: AAI36357.1.
CCDSiCCDS53798.1. [Q16671-3]
CCDS55829.1. [Q16671-2]
CCDS8858.1. [Q16671-1]
PIRiJC4335.
RefSeqiNP_001158162.1. NM_001164690.1. [Q16671-2]
NP_001158163.1. NM_001164691.1. [Q16671-3]
NP_065434.1. NM_020547.2. [Q16671-1]
UniGeneiHs.659889.

3D structure databases

ProteinModelPortaliQ16671.
SMRiQ16671.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106766. 2 interactors.
IntActiQ16671. 4 interactors.
STRINGi9606.ENSP00000257863.

Chemistry databases

DrugBankiDB00171. Adenosine triphosphate.

PTM databases

iPTMnetiQ16671.
PhosphoSitePlusiQ16671.

Polymorphism and mutation databases

BioMutaiAMHR2.
DMDMi9087133.

Proteomic databases

PaxDbiQ16671.
PeptideAtlasiQ16671.
PRIDEiQ16671.

Protocols and materials databases

DNASUi269.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257863; ENSP00000257863; ENSG00000135409. [Q16671-1]
ENST00000379791; ENSP00000369117; ENSG00000135409. [Q16671-3]
ENST00000550311; ENSP00000446661; ENSG00000135409. [Q16671-2]
GeneIDi269.
KEGGihsa:269.
UCSCiuc001scx.2. human. [Q16671-1]

Organism-specific databases

CTDi269.
DisGeNETi269.
GeneCardsiAMHR2.
HGNCiHGNC:465. AMHR2.
MalaCardsiAMHR2.
MIMi261550. phenotype.
600956. gene.
neXtProtiNX_Q16671.
OpenTargetsiENSG00000135409.
Orphaneti2856. Persistent Mullerian duct syndrome.
PharmGKBiPA24770.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3653. Eukaryota.
ENOG410XS2Z. LUCA.
GeneTreeiENSGT00860000133897.
HOGENOMiHOG000033920.
HOVERGENiHBG097461.
InParanoidiQ16671.
KOiK04672.
OMAiCNANYSH.
OrthoDBiEOG091G05X7.
PhylomeDBiQ16671.
TreeFamiTF314724.

Enzyme and pathway databases

BioCyciZFISH:HS05999-MONOMER.
BRENDAi2.7.10.2. 2681.
SignaLinkiQ16671.
SIGNORiQ16671.

Miscellaneous databases

GenomeRNAii269.
PROiQ16671.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135409.
CleanExiHS_AMHR2.
ExpressionAtlasiQ16671. baseline and differential.
GenevisibleiQ16671. HS.

Family and domain databases

InterProiIPR000472. Activin_recp.
IPR015771. Anti-muellerian_hrmn_rcpt_II.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR000333. TGFB_receptor.
[Graphical view]
PANTHERiPTHR23255. PTHR23255. 1 hit.
PfamiPF01064. Activin_recp. 1 hit.
PF00069. Pkinase. 1 hit.
[Graphical view]
PIRSFiPIRSF037392. AMHRII. 1 hit.
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAMHR2_HUMAN
AccessioniPrimary (citable) accession number: Q16671
Secondary accession number(s): A0AVE1
, B9EGB7, E9PGD2, F8W1D2, Q13762, Q647K2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1996
Last modified: November 30, 2016
This is version 171 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.