Description: Homo sapiens anti-Mullerian hormone receptor type 2 (AMHR2), transcript variant 1, mRNA. (from RefSeq NM_020547) RefSeq Summary (NM_020547): This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]. Gencode Transcript: ENST00000257863.9 Gencode Gene: ENSG00000135409.11 Transcript (Including UTRs) Position: hg38 chr12:53,423,855-53,431,672 Size: 7,818 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr12:53,423,935-53,431,473 Size: 7,539 Coding Exon Count: 11
ID:AMHR2_HUMAN DESCRIPTION: RecName: Full=Anti-Muellerian hormone type-2 receptor; EC=184.108.40.206; AltName: Full=Anti-Muellerian hormone type II receptor; Short=AMH type II receptor; AltName: Full=MIS type II receptor; Short=MISRII; Short=MRII; Flags: Precursor; FUNCTION: 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 ACTIVITY: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. COFACTOR: Magnesium or manganese (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. DISEASE: Defects in AMHR2 are the cause of persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]. PMDS2 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. SIMILARITY: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. SIMILARITY: Contains 1 protein kinase domain. WEB RESOURCE: Name=Wikipedia; Note=Anti-Mullerian hormone entry; URL="http://en.wikipedia.org/wiki/Anti-m%C3%BCllerian_hormone";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01064 - Activin types I and II receptor domain PF00069 - Protein kinase domain
ModBase Predicted Comparative 3D Structure on Q16671
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.