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AMHR2 anti-Mullerian hormone receptor type 2 [ Homo sapiens (human) ]

Gene ID: 269, updated on 27-Sep-2020

Summary

Official Symbol
AMHR2provided by HGNC
Official Full Name
anti-Mullerian hormone receptor type 2provided by HGNC
Primary source
HGNC:HGNC:465
See related
Ensembl:ENSG00000135409 MIM:600956
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AMHR; MRII; MISR2; MISRII
Summary
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]
Expression
Biased expression in ovary (RPKM 12.2), adrenal (RPKM 9.0) and 3 other tissues See more
Orthologs

Genomic context

See AMHR2 in Genome Data Viewer
Location:
12q13.13
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (53423855..53431672)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53817594..53825439)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sp1 transcription factor Neighboring gene CRISPRi-validated cis-regulatory element chr12.1897 Neighboring gene proline rich 13 Neighboring gene poly(rC) binding protein 2 Neighboring gene PCBP2 overlapping transcript 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
activin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
anti-Mullerian hormone receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
hormone binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta receptor activity, type II IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
BMP signaling pathway TAS
Traceable Author Statement
more info
 
Mullerian duct regression NAS
Non-traceable Author Statement
more info
PubMed 
activin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
anti-Mullerian hormone signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
female gonad development IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sex differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
sex differentiation TAS
Traceable Author Statement
more info
PubMed 
transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
activin receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
anti-Muellerian hormone type-2 receptor
Names
AMH type II receptor
MIS type II receptor
Muellerian inhibiting substance type II receptor
Mullerian inhibiting substance type II receptor
anti-Muellerian hormone type II receptor
anti-Mullerian hormone receptor, type II
NP_001158162.1
NP_001158163.1
NP_065434.1
XP_011536475.1
XP_011536476.1
XP_011536478.1
XP_011536480.1
XP_011536481.1
XP_011536482.1
XP_011536483.1
XP_011536485.1
XP_011536486.1
XP_011536487.1
XP_011536488.1
XP_016874668.1
XP_024304706.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015981.1 RefSeqGene

    Range
    5001..12818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164690.2NP_001158162.1  anti-Muellerian hormone type-2 receptor isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region which results in a frameshift and early stop codon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1. Variants 2 and 3 encode isoforms that are the same length, but have distinct protein sequences.
    Source sequence(s)
    AJ572328, AK313593, DB020573
    Consensus CDS
    CCDS55829.1
    UniProtKB/Swiss-Prot
    Q16671
    Related
    ENSP00000446661.1, ENST00000550311.5
    Conserved Domains (2) summary
    cl10471
    Location:61123
    LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...
    cl21453
    Location:207429
    PKc_like; Protein Kinases, catalytic domain
  2. NM_001164691.2NP_001158163.1  anti-Muellerian hormone type-2 receptor isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons in the 3' coding region compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1. Variants 2 and 3 encode isoforms that are the same length, but have distinct protein sequences.
    Source sequence(s)
    AJ572328, AY714878, BC126316, DB020573
    Consensus CDS
    CCDS53798.1
    UniProtKB/Swiss-Prot
    Q16671
    Related
    ENSP00000369117.3, ENST00000379791.7
    Conserved Domains (2) summary
    smart00221
    Location:203408
    STYKc; Protein kinase; unclassified specificity
    cl21453
    Location:207413
    PKc_like; Protein Kinases, catalytic domain
  3. NM_020547.3NP_065434.1  anti-Muellerian hormone type-2 receptor isoform 1 precursor

    See identical proteins and their annotated locations for NP_065434.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC068889, AF172932, AJ572328, DB020573
    Consensus CDS
    CCDS8858.1
    UniProtKB/Swiss-Prot
    Q16671
    Related
    ENSP00000257863.3, ENST00000257863.9
    Conserved Domains (2) summary
    cd14054
    Location:207508
    STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors
    pfam01064
    Location:61119
    Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    53423855..53431672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538184.2XP_011536486.1  anti-Muellerian hormone type-2 receptor isoform X11

    Conserved Domains (1) summary
    cl21453
    Location:208404
    PKc_like; Protein Kinases, catalytic domain
  2. XM_017019179.2XP_016874668.1  anti-Muellerian hormone type-2 receptor isoform X9

  3. XM_011538183.2XP_011536485.1  anti-Muellerian hormone type-2 receptor isoform X10

    Conserved Domains (1) summary
    cl21453
    Location:208400
    PKc_like; Protein Kinases, catalytic domain
  4. XM_011538173.1XP_011536475.1  anti-Muellerian hormone type-2 receptor isoform X1

    Conserved Domains (2) summary
    pfam00069
    Location:208531
    Pkinase; Protein kinase domain
    cl21453
    Location:208528
    PKc_like; Protein Kinases, catalytic domain
  5. XM_011538179.1XP_011536481.1  anti-Muellerian hormone type-2 receptor isoform X5

    Conserved Domains (2) summary
    smart00221
    Location:208428
    STYKc; Protein kinase; unclassified specificity
    cl21453
    Location:208433
    PKc_like; Protein Kinases, catalytic domain
  6. XM_011538176.1XP_011536478.1  anti-Muellerian hormone type-2 receptor isoform X3

    Conserved Domains (2) summary
    smart00220
    Location:208512
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14054
    Location:208509
    STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors
  7. XM_024448938.1XP_024304706.1  anti-Muellerian hormone type-2 receptor isoform X8

    Conserved Domains (2) summary
    pfam01064
    Location:61119
    Activin_recp; Activin types I and II receptor domain
    cl21453
    Location:208414
    PKc_like; Protein Kinases, catalytic domain
  8. XM_011538185.1XP_011536487.1  anti-Muellerian hormone type-2 receptor isoform X12

    Conserved Domains (1) summary
    cl21453
    Location:208285
    PKc_like; Protein Kinases, catalytic domain
  9. XM_011538174.1XP_011536476.1  anti-Muellerian hormone type-2 receptor isoform X2

    Conserved Domains (2) summary
    pfam00069
    Location:205530
    Pkinase; Protein kinase domain
    cl21453
    Location:207527
    PKc_like; Protein Kinases, catalytic domain
  10. XM_011538180.1XP_011536482.1  anti-Muellerian hormone type-2 receptor isoform X6

    Conserved Domains (2) summary
    pfam00069
    Location:96420
    Pkinase; Protein kinase domain
    cl21453
    Location:97417
    PKc_like; Protein Kinases, catalytic domain
  11. XM_011538181.1XP_011536483.1  anti-Muellerian hormone type-2 receptor isoform X7

    Conserved Domains (2) summary
    pfam00069
    Location:96419
    Pkinase; Protein kinase domain
    cl21453
    Location:96416
    PKc_like; Protein Kinases, catalytic domain
  12. XM_011538178.1XP_011536480.1  anti-Muellerian hormone type-2 receptor isoform X4

    Conserved Domains (1) summary
    cl21453
    Location:175455
    PKc_like; Protein Kinases, catalytic domain
  13. XM_011538186.3XP_011536488.1  anti-Muellerian hormone type-2 receptor isoform X13

    Conserved Domains (1) summary
    cl21453
    Location:46233
    PKc_like; Protein Kinases, catalytic domain

RNA

  1. XR_002957311.1 RNA Sequence

  2. XR_002957310.1 RNA Sequence

  3. XR_002957309.1 RNA Sequence

  4. XR_002957312.1 RNA Sequence

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