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Msx2 Gene Detail
Summary
  • Symbol
    Msx2
  • Name
    msh homeobox 2
  • Synonyms
    Hox8, Hox-8, Hox8.1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97169
    NCBI Gene: 17702
  • Gene Overview
    MyGene.info: MSX2
Location & Maps
more
  • Sequence Map
    Chr13:53466884-53473074 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6191 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 27.84 cM
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    MSX2, msh homeobox 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MSX2, msh homeobox 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CRS2, FPP, HOX8, MSH, PFM, PFM1
  • Links
    NCBI Gene ID: 4488
    neXtProt AC: NX_P35548

  • Chr Location
    5q35.2; chr5:174724572-174730899 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 1837
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: MSX2
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Msx2 mouse models; 3 with human MSX2 associations

Human Disease Mouse Models
       Craniosynostosis 2; CRS2   OMIM: 604757 View 3 models
Parietal Foramina 1; PFM1   OMIM: 168500 View 1 model
       Peters Anomaly   OMIM: 604229 View 1 model
       Parietal Foramina with Cleidocranial Dysplasia; PFMCCD   OMIM: 168550
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    99 phenotypes from 8 alleles in 10 genetic backgrounds
    64 phenotypes from multigenic genotypes
    64 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    3
  • Targeted
    8
  • Transgenic
    3
  • Genomic Mutations
    1 involving Msx2
  • Incidental Mutations
Homozygotes for a targeted null mutation exhibit defective skull ossification with persistent calvarial foramen, alopecia, stubby and curly whiskers, seizures, and impaired development of teeth, cerebellum, and mammary gland.
Gene Ontology
(GO)
Classifications
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  • 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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020950 VEGA Gene Model | MGI Sequence Detail 6191 C57BL/6J ±  kb
transcript OTTMUST00000049518 VEGA | MGI Sequence Detail 2453 Not Applicable  
polypeptide OTTMUSP00000022961 VEGA | MGI Sequence Detail 267 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    77 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 64
    Genomic 12
    cDNA 40
    Primer pair 11
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-10868, MGD-MRK-12571, MGI:2145474
References
more
  • Summaries
    All 421
    Developmental Gene Expression 325
    Diseases 4
    Gene Ontology 30
    Phenotypes 64
  • Earliest
    J:11121 Holland PW, Cloning and evolutionary analysis of msh-like homeobox genes from mouse, zebrafish and ascidian. Gene. 1991 Feb 15;98(2):253-7
  • Latest
    J:231516 Trujillo-Paredes N, et al., Regulation of differentiation flux by Notch signalling influences the number of dopaminergic neurons in the adult brain. Biol Open. 2016;5(3):336-47

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory