About   Help   FAQ
Amhr2 Gene Detail
Summary
  • Symbol
    Amhr2
  • Name
    anti-Mullerian hormone type 2 receptor
  • Synonyms
    MISIIR, MIS TypeII receptor
  • Feature Type
    protein coding gene
  • IDs
    MGI:105062
    NCBI Gene: 110542
Location & Maps
more
  • Sequence Map
    Chr15:102445367-102454630 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9264 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    AMHR2, anti-Mullerian hormone receptor type II
  • Vertebrate Orthologs
    8
  • Human Ortholog
    AMHR2, anti-Mullerian hormone receptor type II
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AMHR, MISR2, MISRII, MRII
  • Links
    NCBI Gene ID: 269
    neXtProt AC: NX_Q16671

  • Chr Location
    12q13; chr12:53423855-53431534 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Amhr2 mouse models; 1 with human AMHR2 associations

Human Disease Mouse Models
       Persistent Mullerian Duct Syndrome, Types I and II; PMDS   OMIM: 261550 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    123 phenotypes from multigenic genotypes
    124 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    65
  • Chemically induced (other)
    1
  • Gene trapped
    55
  • Radiation induced
    2
  • Targeted
    7
  • Genomic Mutations
    3 involving Amhr2
  • Incidental Mutations
Homozygous null mutant males have a complete male reproductive tract, but also a uterus and oviducts. Functional sperm are produced, but most males are infertile because female reproductive organs block sperm transfer.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035015 VEGA Gene Model | MGI Sequence Detail 9264 C57BL/6J ±  kb
transcript OTTMUST00000089031 VEGA | MGI Sequence Detail 1938 Not Applicable  
polypeptide OTTMUSP00000048599 VEGA | MGI Sequence Detail 568 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    73 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000000009 anti-Muellerian hormone type-2 receptor
  • EC
  • InterPro Domains
    IPR000472 Activin types I and II receptor domain
    IPR015771 Anti-muellerian hormone receptor, type II
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
    IPR000333 Ser/Thr protein kinase, TGFB receptor
Molecular
Reagents
less
  • All nucleic 17
    Genomic 5
    cDNA 7
    Primer pair 4
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-32101
References
more
  • Summaries
    All 150
    Developmental Gene Expression 25
    Diseases 7
    Gene Ontology 7
    Phenotypes 124
  • Earliest
    J:29442 Visser JA, et al., Structure and chromosomal localization of the human anti-mullerian hormone type II receptor gene. Biochem Biophys Res Commun. 1995 Oct 24;215(3):1029-36
  • Latest
    J:228195 Winuthayanon W, et al., Oviductal estrogen receptor alpha signaling prevents protease-mediated embryo death. Elife. 2015;4

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/19/2016
MGI 6.03
The Jackson Laboratory