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Q16671

- AMHR2_HUMAN

UniProt

Q16671 - AMHR2_HUMAN

Protein

Anti-Muellerian hormone type-2 receptor

Gene

AMHR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    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

    Magnesium or manganese.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

    1. ATP binding Source: UniProtKB-KW
    2. hormone binding Source: UniProtKB
    3. metal ion binding Source: UniProtKB-KW
    4. protein binding Source: IntAct
    5. receptor activity Source: UniProtKB
    6. receptor signaling protein serine/threonine kinase activity Source: InterPro
    7. transforming growth factor beta receptor activity, type II Source: Ensembl

    GO - Biological processi

    1. Mullerian duct regression Source: UniProtKB
    2. sex differentiation Source: UniProtKB
    3. signal transduction Source: UniProtKB
    4. transforming growth factor beta receptor signaling pathway Source: Ensembl

    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.

    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
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:465. AMHR2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]: A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541R → C in PMDS2. 1 Publication
    VAR_015525
    Natural varianti142 – 1421G → V in PMDS2. 1 Publication
    VAR_015526
    Natural varianti282 – 2821H → Q in PMDS2. 1 Publication
    VAR_015527
    Natural varianti406 – 4061R → Q in PMDS2. 1 Publication
    VAR_015528
    Natural varianti426 – 4261D → G in PMDS2. 1 Publication
    VAR_015529
    Natural varianti444 – 4529Missing in PMDS2.
    VAR_031057
    Natural varianti458 – 4581V → A in PMDS2. 1 Publication
    VAR_015530
    Natural varianti491 – 4911D → H in PMDS2. 1 Publication
    VAR_015531
    Natural varianti504 – 5041R → C in PMDS2. 1 Publication
    VAR_015532

    Keywords - Diseasei

    Disease mutation, Pseudohermaphroditism

    Organism-specific databases

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

    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
    Glycosylationi66 – 661N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi119 – 1191N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ16671.
    PRIDEiQ16671.

    PTM databases

    PhosphoSiteiQ16671.

    Expressioni

    Gene expression databases

    ArrayExpressiQ16671.
    BgeeiQ16671.
    CleanExiHS_AMHR2.
    GenevestigatoriQ16671.

    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...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini18 – 149132ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini171 – 573403CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei150 – 17021HelicalSequence AnalysisAdd
    BLAST

    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

    eggNOGiNOG243040.
    HOGENOMiHOG000033920.
    HOVERGENiHBG097461.
    InParanoidiQ16671.
    KOiK04672.
    OMAiCNANYSH.
    OrthoDBiEOG7WHH97.
    PhylomeDBiQ16671.
    TreeFamiTF314724.

    Family and domain databases

    InterProiIPR000472. Activin_rcpt.
    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. Align

    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

    MLGSLGLWAL LPTAVEAPPN RRTCVFFEAP GVRGSTKTLG ELLDTGTELP    50
    RAIRCLYSRC CFGIWNLTQD RAQVEMQGCR DSDEPGCESL HCDPSPRAHP 100
    SPGSTLFTCS CGTDFCNANY SHLPPPGSPG TPGSQGPQAA PGESIWMALV 150
    LLGLFLLLLL LLGSIILALL QRKNYRVRGE PVPEPRPDSG RDWSVELQEL 200
    PELCFSQVIR EGGHAVVWAG QLQGKLVAIK AFPPRSVAQF QAERALYELP 250
    GLQHDHIVRF ITASRGGPGR LLSGPLLVLE LHPKGSLCHY LTQYTSDWGS 300
    SLRMALSLAQ GLAFLHEERW QNGQYKPGIA HRDLSSQNVL IREDGSCAIG 350
    DLGLALVLPG LTQPPAWTPT QPQGPAAIME AGTQRYMAPE LLDKTLDLQD 400
    WGMALRRADI YSLALLLWEI LSRCPDLRPD SSPPPFQLAY EAELGNTPTS 450
    DELWALAVQE RRRPYIPSTW RCFATDPDGL RELLEDCWDA DPEARLTAEC 500
    VQQRLAALAH PQESHPFPES CPRGCPPLCP EDCTSIPAPT ILPCRPQRSA 550
    CHFSVQQGPC SRNPQPACTL SPV 573
    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. 1 PublicationCurated
    Sequence conflicti161 – 1611L → V in CAA62593. (PubMed:7488027)Curated
    Sequence conflicti501 – 5011V → A in AAU21221. 1 PublicationCurated

    Natural variant

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

    Polymorphism databases

    DMDMi9087133.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Anti-Mullerian hormone entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_001164690.1. [Q16671-2 ]
    NP_001158163.1. NM_001164691.1. [Q16671-3 ]
    NP_065434.1. NM_020547.2. [Q16671-1 ]
    UniGenei Hs.659889.

    3D structure databases

    ProteinModelPortali Q16671.
    SMRi Q16671. Positions 199-508.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106766. 2 interactions.
    IntActi Q16671. 4 interactions.
    STRINGi 9606.ENSP00000257863.

    Chemistry

    DrugBanki DB00171. Adenosine triphosphate.

    PTM databases

    PhosphoSitei Q16671.

    Polymorphism databases

    DMDMi 9087133.

    Proteomic databases

    PaxDbi Q16671.
    PRIDEi Q16671.

    Protocols and materials databases

    DNASUi 269.
    Structural Biology Knowledgebase Search...

    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.
    GeneCardsi GC12P053823.
    HGNCi HGNC:465. AMHR2.
    MIMi 261550. phenotype.
    600956. gene.
    neXtProti NX_Q16671.
    Orphaneti 2856. Persistent Mullerian duct syndrome.
    PharmGKBi PA24770.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG243040.
    HOGENOMi HOG000033920.
    HOVERGENi HBG097461.
    InParanoidi Q16671.
    KOi K04672.
    OMAi CNANYSH.
    OrthoDBi EOG7WHH97.
    PhylomeDBi Q16671.
    TreeFami TF314724.

    Enzyme and pathway databases

    BRENDAi 2.7.10.2. 2681.
    SignaLinki Q16671.

    Miscellaneous databases

    GenomeRNAii 269.
    NextBioi 1057.
    PROi Q16671.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q16671.
    Bgeei Q16671.
    CleanExi HS_AMHR2.
    Genevestigatori Q16671.

    Family and domain databases

    InterProi IPR000472. Activin_rcpt.
    IPR015771. Anti-muellerian_hrmn_rcpt_II.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR000333. TGFB_receptor.
    [Graphical view ]
    PANTHERi PTHR23255. PTHR23255. 1 hit.
    Pfami PF01064. Activin_recp. 1 hit.
    PF00069. Pkinase. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037392. AMHRII. 1 hit.
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS50011. PROTEIN_KINASE_DOM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Structure and chromosomal localization of the human anti-Muellerian hormone type II receptor gene."
      Visser J.A., McLuskey A., van Beers T., Weghuis D.O., van Kessel A.G., Grootegoed J.A., Themmen A.P.N.
      Biochem. Biophys. Res. Commun. 215:1029-1036(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Human ovarian cancer, cell lines, and primary ascites cells express the human Muellerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS."
      Masiakos P.T., MacLaughlin D.T., Maheswaran S., Teixeira J., Fuller A.F. Jr., Shah P.C., Kehas D.J., Kenneally M.K., Dombkowski D.M., Ha T.U., Preffer F.I., Donahoe P.K.
      Clin. Cancer Res. 5:3488-3499(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    4. Li H., Ke R., Shen C., Zhou G., Zhong G., Lin L., Yang S.
      Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), VARIANT HIS-319.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    6. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    8. "A 27 base-pair deletion of the anti-Muellerian type II receptor gene is the most common cause of the persistent Muellerian duct syndrome."
      Imbeaud S., Belville C., Messika-Zeitoun L., Rey R., di Clemente N., Josso N., Picard J.-Y.
      Hum. Mol. Genet. 5:1269-1277(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PMDS2 CYS-54; VAL-142; GLN-282; GLY-426; 444-LEU--GLU-452 DEL; ALA-458; HIS-491 AND CYS-504.
    9. "Autosomal recessive segregation of a truncating mutation of anti-Muellerian type II receptor in a family affected by the persistent Muellerian duct syndrome contrasts with its dominant negative activity in vitro."
      Messika-Zeitoun L., Gouedard L., Belville C., Dutertre M., Lins L., Imbeaud S., Hughes I.A., Picard J.-Y., Josso N., di Clemente N.
      J. Clin. Endocrinol. Metab. 86:4390-4397(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PMDS2 GLN-406.

    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: October 1, 2014
    This is version 152 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

    External Data

    Dasty 3