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Q16671

- AMHR2_HUMAN

UniProt

Q16671 - AMHR2_HUMAN

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Protein
Anti-Muellerian hormone type-2 receptor
Gene
AMHR2, AMHR, MISR2
Organism
Homo sapiens (Human)
Status
Reviewed - 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

Magnesium or manganese By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei230 – 2301ATP By similarity
Active sitei333 – 3331Proton acceptor By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi209 – 2179ATP By similarity

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
Complete GO annotation...

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
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.

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini18 – 149132Extracellular Reviewed prediction
Add
BLAST
Transmembranei150 – 17021Helical; Reviewed prediction
Add
BLAST
Topological domaini171 – 573403Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: Ensembl
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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 – 1717 Reviewed prediction
Add
BLAST
Chaini18 – 573556Anti-Muellerian hormone type-2 receptor
PRO_0000024408Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi66 – 661N-linked (GlcNAc...) Reviewed prediction
Glycosylationi119 – 1191N-linked (GlcNAc...) Reviewed prediction

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. 1 interaction.
STRINGi9606.ENSP00000257863.

Structurei

3D structure databases

ProteinModelPortaliQ16671.
SMRiQ16671. Positions 199-508.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini203 – 518316Protein kinase
Add
BLAST

Sequence similaritiesi

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

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.
VSP_045281Add
BLAST
Alternative sequencei430 – 573144DSSPP…TLSPV → AVHHPSNWPMRQNWAIPLPL MSYGPWQCRRGGVPTSHPPG AALPQTLMG in isoform 2.
VSP_044548Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti121 – 1211S → N in AAU21221. 1 Publication
Sequence conflicti161 – 1611L → V in CAA62593. 1 Publication
Sequence conflicti501 – 5011V → A in AAU21221. 1 Publication

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...

Protein-protein interaction databases

BioGridi 106766. 2 interactions.
IntActi Q16671. 1 interaction.
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 151 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

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