UniProtKB - Q16671 (AMHR2_HUMAN)
Protein
Anti-Muellerian hormone type-2 receptor
Gene
AMHR2
Organism
Homo sapiens (Human)
Status
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
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 230 | ATPPROSITE-ProRule annotation | 1 | |
Active sitei | 333 | Proton acceptorPROSITE-ProRule annotation | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 209 – 217 | ATPPROSITE-ProRule annotation | 9 |
GO - Molecular functioni
- activin-activated receptor activity Source: GO_Central
- activin binding Source: GO_Central
- anti-Mullerian hormone receptor activity Source: UniProtKB
- ATP binding Source: UniProtKB-KW
- hormone binding Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- protein serine/threonine kinase activity Source: GO_Central
- transforming growth factor beta receptor activity, type II Source: Ensembl
GO - Biological processi
- activin receptor signaling pathway Source: GO_Central
- anti-Mullerian hormone signaling pathway Source: UniProtKB
- BMP signaling pathway Source: Reactome
- cellular response to growth factor stimulus Source: GO_Central
- female gonad development Source: Ensembl
- male gonad development Source: Ensembl
- Mullerian duct regression Source: UniProtKB
- protein phosphorylation Source: GO_Central
- sex differentiation Source: UniProtKB
- transforming growth factor beta receptor signaling pathway Source: GO_Central
Keywordsi
Molecular function | Kinase, Receptor, Serine/threonine-protein kinase, Transferase |
Ligand | ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.10.2, 2681 |
PathwayCommonsi | Q16671 |
Reactomei | R-HSA-201451, Signaling by BMP |
SignaLinki | Q16671 |
SIGNORi | Q16671 |
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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000135409.10 |
HGNCi | HGNC:465, AMHR2 |
MIMi | 600956, gene |
neXtProti | NX_Q16671 |
Subcellular locationi
Other locations
Plasma Membrane
- activin receptor complex Source: GO_Central
- plasma membrane Source: GO_Central
Other locations
- receptor complex Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 18 – 149 | ExtracellularSequence analysisAdd BLAST | 132 | |
Transmembranei | 150 – 170 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 171 – 573 | CytoplasmicSequence analysisAdd BLAST | 403 |
Keywords - Cellular componenti
MembranePathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015525 | 54 | R → C in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs534999427Ensembl. | 1 | |
Natural variantiVAR_015526 | 142 | G → V in PMDS2. 1 Publication | 1 | |
Natural variantiVAR_015527 | 282 | H → Q in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs539695176Ensembl. | 1 | |
Natural variantiVAR_015528 | 406 | R → Q in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs137853104EnsemblClinVar. | 1 | |
Natural variantiVAR_015529 | 426 | D → G in PMDS2. 1 Publication | 1 | |
Natural variantiVAR_031057 | 445 – 453 | Missing in PMDS2. 1 Publication | 9 | |
Natural variantiVAR_015530 | 458 | V → A in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs775889926Ensembl. | 1 | |
Natural variantiVAR_015531 | 491 | D → H in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs780680518Ensembl. | 1 | |
Natural variantiVAR_015532 | 504 | R → C in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs772294564Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, PseudohermaphroditismOrganism-specific databases
DisGeNETi | 269 |
MalaCardsi | AMHR2 |
MIMi | 261550, phenotype |
OpenTargetsi | ENSG00000135409 |
Orphaneti | 2856, Persistent Muellerian duct syndrome |
PharmGKBi | PA24770 |
Miscellaneous databases
Pharosi | Q16671, Tbio |
Chemistry databases
DrugBanki | DB00171, ATP |
Polymorphism and mutation databases
BioMutai | AMHR2 |
DMDMi | 9087133 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 17 | Sequence analysisAdd BLAST | 17 | |
ChainiPRO_0000024408 | 18 – 573 | Anti-Muellerian hormone type-2 receptorAdd BLAST | 556 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 55 ↔ 79 | By similarity | ||
Glycosylationi | 66 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 92 ↔ 109 | By similarity | ||
Glycosylationi | 119 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | Q16671 |
PaxDbi | Q16671 |
PeptideAtlasi | Q16671 |
PRIDEi | Q16671 |
ProteomicsDBi | 20294 29591 61030 [Q16671-1] |
PTM databases
GlyGeni | Q16671, 2 sites |
iPTMneti | Q16671 |
PhosphoSitePlusi | Q16671 |
Expressioni
Gene expression databases
Bgeei | ENSG00000135409, Expressed in left adrenal gland and 96 other tissues |
ExpressionAtlasi | Q16671, baseline and differential |
Genevisiblei | Q16671, HS |
Organism-specific databases
HPAi | ENSG00000135409, Tissue enhanced (adrenal gland, ovary, testis) |
Interactioni
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 106766, 30 interactors |
IntActi | Q16671, 5 interactors |
STRINGi | 9606.ENSP00000257863 |
Miscellaneous databases
RNActi | Q16671, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 203 – 518 | Protein kinasePROSITE-ProRule annotationAdd BLAST | 316 |
Sequence similaritiesi
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.Curated
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3653, Eukaryota |
GeneTreei | ENSGT00940000160885 |
HOGENOMi | CLU_000288_8_4_1 |
InParanoidi | Q16671 |
OMAi | TPTTCEL |
OrthoDBi | 390511at2759 |
PhylomeDBi | Q16671 |
TreeFami | TF314724 |
Family and domain databases
InterProi | View protein in InterPro IPR000472, Activin_recp IPR015771, Anti-muellerian_hrmn_rcpt_II IPR011009, Kinase-like_dom_sf IPR000719, Prot_kinase_dom IPR000333, TGFB_receptor |
PANTHERi | PTHR23255, PTHR23255, 1 hit |
Pfami | View protein in Pfam PF01064, Activin_recp, 1 hit PF00069, Pkinase, 1 hit |
PIRSFi | PIRSF037392, AMHRII, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS50011, PROTEIN_KINASE_DOM, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q16671-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH3BPI9 | H3BPI9_HUMAN | Receptor protein serine/threonine k... | AMHR2 | 172 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 121 | S → N in AAU21221 (Ref. 4) Curated | 1 | |
Sequence conflicti | 161 | L → V in CAA62593 (PubMed:7488027).Curated | 1 | |
Sequence conflicti | 501 | V → A in AAU21221 (Ref. 4) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015525 | 54 | R → C in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs534999427Ensembl. | 1 | |
Natural variantiVAR_015526 | 142 | G → V in PMDS2. 1 Publication | 1 | |
Natural variantiVAR_015527 | 282 | H → Q in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs539695176Ensembl. | 1 | |
Natural variantiVAR_069048 | 319 | R → H1 PublicationCorresponds to variant dbSNP:rs144236183Ensembl. | 1 | |
Natural variantiVAR_015528 | 406 | R → Q in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs137853104EnsemblClinVar. | 1 | |
Natural variantiVAR_015529 | 426 | D → G in PMDS2. 1 Publication | 1 | |
Natural variantiVAR_031057 | 445 – 453 | Missing in PMDS2. 1 Publication | 9 | |
Natural variantiVAR_015530 | 458 | V → A in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs775889926Ensembl. | 1 | |
Natural variantiVAR_015531 | 491 | D → H in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs780680518Ensembl. | 1 | |
Natural variantiVAR_015532 | 504 | R → C in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs772294564Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045281 | 381 – 475 | Missing in isoform 3. 1 PublicationAdd BLAST | 95 | |
Alternative sequenceiVSP_044548 | 430 – 573 | DSSPP…TLSPV → AVHHPSNWPMRQNWAIPLPL MSYGPWQCRRGGVPTSHPPG AALPQTLMG in isoform 2. 1 PublicationAdd BLAST | 144 |
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 |
CCDSi | CCDS53798.1 [Q16671-3] CCDS55829.1 [Q16671-2] CCDS8858.1 [Q16671-1] |
PIRi | JC4335 |
RefSeqi | NP_001158162.1, NM_001164690.2 [Q16671-2] NP_001158163.1, NM_001164691.2 [Q16671-3] NP_065434.1, NM_020547.3 [Q16671-1] |
Genome annotation databases
Ensembli | ENST00000257863; ENSP00000257863; ENSG00000135409 [Q16671-1] ENST00000379791; ENSP00000369117; ENSG00000135409 [Q16671-3] ENST00000550311; ENSP00000446661; ENSG00000135409 [Q16671-2] |
GeneIDi | 269 |
KEGGi | hsa:269 |
UCSCi | uc001scx.2, human [Q16671-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS53798.1 [Q16671-3] CCDS55829.1 [Q16671-2] CCDS8858.1 [Q16671-1] |
PIRi | JC4335 |
RefSeqi | NP_001158162.1, NM_001164690.2 [Q16671-2] NP_001158163.1, NM_001164691.2 [Q16671-3] NP_065434.1, NM_020547.3 [Q16671-1] |
3D structure databases
SMRi | Q16671 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 106766, 30 interactors |
IntActi | Q16671, 5 interactors |
STRINGi | 9606.ENSP00000257863 |
Chemistry databases
DrugBanki | DB00171, ATP |
PTM databases
GlyGeni | Q16671, 2 sites |
iPTMneti | Q16671 |
PhosphoSitePlusi | Q16671 |
Polymorphism and mutation databases
BioMutai | AMHR2 |
DMDMi | 9087133 |
Proteomic databases
MassIVEi | Q16671 |
PaxDbi | Q16671 |
PeptideAtlasi | Q16671 |
PRIDEi | Q16671 |
ProteomicsDBi | 20294 29591 61030 [Q16671-1] |
Protocols and materials databases
ABCDi | Q16671, 5 sequenced antibodies |
Antibodypediai | 27053, 315 antibodies |
DNASUi | 269 |
Genome annotation databases
Ensembli | ENST00000257863; ENSP00000257863; ENSG00000135409 [Q16671-1] ENST00000379791; ENSP00000369117; ENSG00000135409 [Q16671-3] ENST00000550311; ENSP00000446661; ENSG00000135409 [Q16671-2] |
GeneIDi | 269 |
KEGGi | hsa:269 |
UCSCi | uc001scx.2, human [Q16671-1] |
Organism-specific databases
CTDi | 269 |
DisGeNETi | 269 |
EuPathDBi | HostDB:ENSG00000135409.10 |
GeneCardsi | AMHR2 |
HGNCi | HGNC:465, AMHR2 |
HPAi | ENSG00000135409, Tissue enhanced (adrenal gland, ovary, testis) |
MalaCardsi | AMHR2 |
MIMi | 261550, phenotype 600956, gene |
neXtProti | NX_Q16671 |
OpenTargetsi | ENSG00000135409 |
Orphaneti | 2856, Persistent Muellerian duct syndrome |
PharmGKBi | PA24770 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3653, Eukaryota |
GeneTreei | ENSGT00940000160885 |
HOGENOMi | CLU_000288_8_4_1 |
InParanoidi | Q16671 |
OMAi | TPTTCEL |
OrthoDBi | 390511at2759 |
PhylomeDBi | Q16671 |
TreeFami | TF314724 |
Enzyme and pathway databases
BRENDAi | 2.7.10.2, 2681 |
PathwayCommonsi | Q16671 |
Reactomei | R-HSA-201451, Signaling by BMP |
SignaLinki | Q16671 |
SIGNORi | Q16671 |
Miscellaneous databases
BioGRID-ORCSi | 269, 13 hits in 869 CRISPR screens |
GenomeRNAii | 269 |
Pharosi | Q16671, Tbio |
PROi | PR:Q16671 |
RNActi | Q16671, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135409, Expressed in left adrenal gland and 96 other tissues |
ExpressionAtlasi | Q16671, baseline and differential |
Genevisiblei | Q16671, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000472, Activin_recp IPR015771, Anti-muellerian_hrmn_rcpt_II IPR011009, Kinase-like_dom_sf IPR000719, Prot_kinase_dom IPR000333, TGFB_receptor |
PANTHERi | PTHR23255, PTHR23255, 1 hit |
Pfami | View protein in Pfam PF01064, Activin_recp, 1 hit PF00069, Pkinase, 1 hit |
PIRSFi | PIRSF037392, AMHRII, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS50011, PROTEIN_KINASE_DOM, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AMHR2_HUMAN | |
Accessioni | Q16671Primary (citable) accession number: Q16671 Secondary accession number(s): A0AVE1 Q647K2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | November 1, 1996 | |
Last modified: | December 2, 2020 | |
This is version 203 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human and mouse protein kinases
Human and mouse protein kinases: classification and index