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Entry version 190 (13 Feb 2019)
Sequence version 1 (01 Nov 1996)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity, Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei230ATPPROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei333Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi209 – 217ATPPROSITE-ProRule annotation9

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • anti-Mullerian hormone receptor activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • growth factor binding Source: GO_Central
  • hormone binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • SMAD binding Source: GO_Central
  • transforming growth factor beta-activated receptor activity Source: GO_Central
  • transforming growth factor beta receptor activity, type II Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionKinase, Receptor, Serine/threonine-protein kinase, Transferase
LigandATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.10.2 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-201451 Signaling by BMP

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q16671

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q16671

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AMHR2
Synonyms:AMHR, MISR2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000135409.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:465 AMHR2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600956 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q16671

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini18 – 149ExtracellularSequence analysisAdd BLAST132
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei150 – 170HelicalSequence analysisAdd BLAST21
Topological domaini171 – 573CytoplasmicSequence analysisAdd BLAST403

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01552554R → C in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs534999427Ensembl.1
Natural variantiVAR_015526142G → V in PMDS2. 1 Publication1
Natural variantiVAR_015527282H → Q in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs539695176Ensembl.1
Natural variantiVAR_015528406R → Q in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs137853104EnsemblClinVar.1
Natural variantiVAR_015529426D → G in PMDS2. 1 Publication1
Natural variantiVAR_031057445 – 453Missing in PMDS2. 1 Publication9
Natural variantiVAR_015530458V → A in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs775889926Ensembl.1
Natural variantiVAR_015531491D → H in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs780680518Ensembl.1
Natural variantiVAR_015532504R → C in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs772294564Ensembl.1

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

DisGeNET

More...
DisGeNETi
269

MalaCards human disease database

More...
MalaCardsi
AMHR2
MIMi261550 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000135409

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2856 Persistent Muellerian duct syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24770

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00171 Adenosine triphosphate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AMHR2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
9087133

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 17Sequence analysisAdd BLAST17
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002440818 – 573Anti-Muellerian hormone type-2 receptorAdd BLAST556

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi55 ↔ 79By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi66N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi92 ↔ 109By similarity
Glycosylationi119N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q16671

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q16671

PeptideAtlas

More...
PeptideAtlasi
Q16671

PRoteomics IDEntifications database

More...
PRIDEi
Q16671

ProteomicsDB human proteome resource

More...
ProteomicsDBi
61030

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q16671

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q16671

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000135409 Expressed in 61 organ(s), highest expression level in left adrenal gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q16671 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q16671 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106766, 20 interactors

Protein interaction database and analysis system

More...
IntActi
Q16671, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000257863

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q16671

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q16671

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini203 – 518Protein kinasePROSITE-ProRule annotationAdd BLAST316

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3653 Eukaryota
ENOG410XS2Z LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160885

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000033920

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG097461

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q16671

KEGG Orthology (KO)

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KOi
K04672

Identification of Orthologs from Complete Genome Data

More...
OMAi
TQHTSDW

Database of Orthologous Groups

More...
OrthoDBi
1025058at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q16671

TreeFam database of animal gene trees

More...
TreeFami
TF314724

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
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

The PANTHER Classification System

More...
PANTHERi
PTHR23255 PTHR23255, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01064 Activin_recp, 1 hit
PF00069 Pkinase, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF037392 AMHRII, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56112 SSF56112, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50011 PROTEIN_KINASE_DOM, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BPI9H3BPI9_HUMAN
Receptor protein serine/threonine k...
AMHR2
172Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs534999427Ensembl.1
Natural variantiVAR_015526142G → V in PMDS2. 1 Publication1
Natural variantiVAR_015527282H → Q in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs539695176Ensembl.1
Natural variantiVAR_069048319R → H1 PublicationCorresponds to variant dbSNP:rs144236183Ensembl.1
Natural variantiVAR_015528406R → Q in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs137853104EnsemblClinVar.1
Natural variantiVAR_015529426D → G in PMDS2. 1 Publication1
Natural variantiVAR_031057445 – 453Missing in PMDS2. 1 Publication9
Natural variantiVAR_015530458V → A in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs775889926Ensembl.1
Natural variantiVAR_015531491D → H in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs780680518Ensembl.1
Natural variantiVAR_015532504R → C in PMDS2. 1 PublicationCorresponds to variant dbSNP:rs772294564Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS53798.1 [Q16671-3]
CCDS55829.1 [Q16671-2]
CCDS8858.1 [Q16671-1]

Protein sequence database of the Protein Information Resource

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PIRi
JC4335

NCBI Reference Sequences

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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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.659889

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000257863; ENSP00000257863; ENSG00000135409 [Q16671-1]
ENST00000379791; ENSP00000369117; ENSG00000135409 [Q16671-3]
ENST00000550311; ENSP00000446661; ENSG00000135409 [Q16671-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
269

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:269

UCSC genome browser

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UCSCi
uc001scx.2 human [Q16671-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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_001164690.2 [Q16671-2]
NP_001158163.1, NM_001164691.2 [Q16671-3]
NP_065434.1, NM_020547.3 [Q16671-1]
UniGeneiHs.659889

3D structure databases

ProteinModelPortaliQ16671
SMRiQ16671
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106766, 20 interactors
IntActiQ16671, 5 interactors
STRINGi9606.ENSP00000257863

Chemistry databases

DrugBankiDB00171 Adenosine triphosphate

PTM databases

iPTMnetiQ16671
PhosphoSitePlusiQ16671

Polymorphism and mutation databases

BioMutaiAMHR2
DMDMi9087133

Proteomic databases

jPOSTiQ16671
PaxDbiQ16671
PeptideAtlasiQ16671
PRIDEiQ16671
ProteomicsDBi61030

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
269
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

Comparative Toxicogenomics Database

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CTDi
269
DisGeNETi269
EuPathDBiHostDB:ENSG00000135409.10

GeneCards: human genes, protein and diseases

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GeneCardsi
AMHR2
HGNCiHGNC:465 AMHR2
MalaCardsiAMHR2
MIMi261550 phenotype
600956 gene
neXtProtiNX_Q16671
OpenTargetsiENSG00000135409
Orphaneti2856 Persistent Muellerian duct syndrome
PharmGKBiPA24770

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3653 Eukaryota
ENOG410XS2Z LUCA
GeneTreeiENSGT00940000160885
HOGENOMiHOG000033920
HOVERGENiHBG097461
InParanoidiQ16671
KOiK04672
OMAiTQHTSDW
OrthoDBi1025058at2759
PhylomeDBiQ16671
TreeFamiTF314724

Enzyme and pathway databases

BRENDAi2.7.10.2 2681
ReactomeiR-HSA-201451 Signaling by BMP
SignaLinkiQ16671
SIGNORiQ16671

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
269

Protein Ontology

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PROi
PR:Q16671

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000135409 Expressed in 61 organ(s), highest expression level in left adrenal gland
ExpressionAtlasiQ16671 baseline and differential
GenevisibleiQ16671 HS

Family and domain databases

InterProiView protein in InterPro
IPR000472 Activin_recp
IPR015771 Anti-muellerian_hrmn_rcpt_II
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR000333 TGFB_receptor
PANTHERiPTHR23255 PTHR23255, 1 hit
PfamiView protein in Pfam
PF01064 Activin_recp, 1 hit
PF00069 Pkinase, 1 hit
PIRSFiPIRSF037392 AMHRII, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS50011 PROTEIN_KINASE_DOM, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAMHR2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q16671
Secondary accession number(s): A0AVE1
, B9EGB7, E9PGD2, F8W1D2, Q13762, Q647K2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1996
Last modified: February 13, 2019
This is version 190 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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