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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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei230 – 2301ATPPROSITE-ProRule annotation
Active sitei333 – 3331Proton acceptorPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi209 – 2179ATPPROSITE-ProRule annotation

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

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini18 – 149132ExtracellularSequence analysisAdd
BLAST
Transmembranei150 – 17021HelicalSequence analysisAdd
BLAST
Topological domaini171 – 573403CytoplasmicSequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541R → C in PMDS2. 1 Publication
Corresponds to variant rs534999427 [ dbSNP | Ensembl ].
VAR_015525
Natural varianti142 – 1421G → V in PMDS2. 1 Publication
VAR_015526
Natural varianti282 – 2821H → Q in PMDS2. 1 Publication
Corresponds to variant rs539695176 [ dbSNP | Ensembl ].
VAR_015527
Natural varianti406 – 4061R → Q in PMDS2. 1 Publication
Corresponds to variant rs137853104 [ dbSNP | Ensembl ].
VAR_015528
Natural varianti426 – 4261D → G in PMDS2. 1 Publication
VAR_015529
Natural varianti444 – 4529Missing in PMDS2. 1 Publication
VAR_031057
Natural varianti458 – 4581V → A in PMDS2. 1 Publication
Corresponds to variant rs775889926 [ dbSNP | Ensembl ].
VAR_015530
Natural varianti491 – 4911D → H in PMDS2. 1 Publication
Corresponds to variant rs780680518 [ dbSNP | Ensembl ].
VAR_015531
Natural varianti504 – 5041R → C in PMDS2. 1 Publication
Corresponds to variant rs772294564 [ dbSNP | Ensembl ].
VAR_015532

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

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

Chemistry

DrugBankiDB00171. Adenosine triphosphate.

Polymorphism and mutation databases

BioMutaiAMHR2.
DMDMi9087133.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1717Sequence analysisAdd
BLAST
Chaini18 – 573556Anti-Muellerian hormone type-2 receptorPRO_0000024408Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi55 ↔ 79By similarity
Glycosylationi66 – 661N-linked (GlcNAc...)Sequence analysis
Disulfide bondi92 ↔ 109By similarity
Glycosylationi119 – 1191N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ16671.
PeptideAtlasiQ16671.
PRIDEiQ16671.

PTM databases

iPTMnetiQ16671.
PhosphoSiteiQ16671.

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 interactions.
IntActiQ16671. 4 interactions.
STRINGi9606.ENSP00000257863.

Structurei

3D structure databases

ProteinModelPortaliQ16671.
SMRiQ16671. Positions 199-508.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini203 – 518316Protein kinasePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3653. Eukaryota.
ENOG410XS2Z. LUCA.
GeneTreeiENSGT00760000118876.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti121 – 1211S → N in AAU21221 (Ref. 4) Curated
Sequence conflicti161 – 1611L → V in CAA62593 (PubMed:7488027).Curated
Sequence conflicti501 – 5011V → A in AAU21221 (Ref. 4) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541R → C in PMDS2. 1 Publication
Corresponds to variant rs534999427 [ dbSNP | Ensembl ].
VAR_015525
Natural varianti142 – 1421G → V in PMDS2. 1 Publication
VAR_015526
Natural varianti282 – 2821H → Q in PMDS2. 1 Publication
Corresponds to variant rs539695176 [ dbSNP | Ensembl ].
VAR_015527
Natural varianti319 – 3191R → H.1 Publication
Corresponds to variant rs144236183 [ dbSNP | Ensembl ].
VAR_069048
Natural varianti406 – 4061R → Q in PMDS2. 1 Publication
Corresponds to variant rs137853104 [ dbSNP | Ensembl ].
VAR_015528
Natural varianti426 – 4261D → G in PMDS2. 1 Publication
VAR_015529
Natural varianti444 – 4529Missing in PMDS2. 1 Publication
VAR_031057
Natural varianti458 – 4581V → A in PMDS2. 1 Publication
Corresponds to variant rs775889926 [ dbSNP | Ensembl ].
VAR_015530
Natural varianti491 – 4911D → H in PMDS2. 1 Publication
Corresponds to variant rs780680518 [ dbSNP | Ensembl ].
VAR_015531
Natural varianti504 – 5041R → C in PMDS2. 1 Publication
Corresponds to variant rs772294564 [ dbSNP | Ensembl ].
VAR_015532

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei381 – 47595Missing in isoform 3. 1 PublicationVSP_045281Add
BLAST
Alternative sequencei430 – 573144DSSPP…TLSPV → AVHHPSNWPMRQNWAIPLPL MSYGPWQCRRGGVPTSHPPG AALPQTLMG in isoform 2. 1 PublicationVSP_044548Add
BLAST

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. Positions 199-508.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106766. 2 interactions.
IntActiQ16671. 4 interactions.
STRINGi9606.ENSP00000257863.

Chemistry

DrugBankiDB00171. Adenosine triphosphate.

PTM databases

iPTMnetiQ16671.
PhosphoSiteiQ16671.

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

Phylogenomic databases

eggNOGiKOG3653. Eukaryota.
ENOG410XS2Z. LUCA.
GeneTreeiENSGT00760000118876.
HOGENOMiHOG000033920.
HOVERGENiHBG097461.
InParanoidiQ16671.
KOiK04672.
OMAiCNANYSH.
OrthoDBiEOG091G05X7.
PhylomeDBiQ16671.
TreeFamiTF314724.

Enzyme and pathway databases

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: September 7, 2016
This is version 168 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.