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Msx2 Gene Detail
Summary
  • Symbol
    Msx2
  • Name
    msh homeobox 2
  • Synonyms
    Hox-8, Hox8, Hox8.1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97169
    NCBI Gene: 17702
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:53620917-53626816 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 27.84 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    173 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97169
 protein coding gene Chr13:53620917-53627110 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020562
 protein coding gene Chr13:52804752-52810893 (-)
A/J MGP_AJ_G0020516
 protein coding gene Chr13:50894323-50900472 (-)
AKR/J MGP_AKRJ_G0020494
 protein coding gene Chr13:52347393-52353551 (-)
BALB/cJ MGP_BALBcJ_G0020512
 protein coding gene Chr13:51117563-51123718 (-)
C3H/HeJ MGP_C3HHeJ_G0020311
 protein coding gene Chr13:52192269-52198418 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020946
 protein coding gene Chr13:54422864-54430603 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018528
 protein coding gene Chr13:48899907-48906068 (-)
CAST/EiJ MGP_CASTEiJ_G0019825
 protein coding gene Chr13:52221319-52227509 (-)
CBA/J MGP_CBAJ_G0020271
 protein coding gene Chr13:56468670-56477056 (-)
DBA/2J MGP_DBA2J_G0020394
 protein coding gene Chr13:50467157-50473310 (-)
FVB/NJ MGP_FVBNJ_G0020373
 protein coding gene Chr13:49914100-49920390 (-)
LP/J MGP_LPJ_G0020470
 protein coding gene Chr13:53073831-53079972 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020402
 protein coding gene Chr13:56029648-56035792 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020989
 protein coding gene Chr13:51963335-51969482 (-)
PWK/PhJ MGP_PWKPhJ_G0019581
 protein coding gene Chr13:50418918-50425120 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019408
 protein coding gene Chr13:50868992-50875117 (-)
WSB/EiJ MGP_WSBEiJ_G0019887
 protein coding gene Chr13:52289711-52295860 (-)



Homology
more
  • Human Ortholog
    MSX2, msh homeobox 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MSX2, msh homeobox 2
  • Synonyms
    CRS2, FPP, HOX8, MSH, PFM, PFM1
  • Links
    NCBI Gene ID: 4488
    neXtProt AC: NX_P35548
    UniProt: P35548

  • Chr Location
    5q35.2; chr5:174724582-174730896 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Msx2 mouse models; 2 with human MSX2 associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    101 phenotypes from 8 alleles in 10 genetic backgrounds
    64 phenotypes from multigenic genotypes
    78 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.
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
less
  • All GO Annotations
    85
  • GO References
    31
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1924
  • Tissues
    668
  • cDNA Data
    37
  • Literature Summary
    395
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17702 NCBI Gene Model | MGI Sequence Detail 5900 C57BL/6J ±  kb
    transcript NM_013601 RefSeq | MGI Sequence Detail 2162 ZRU/MplStud  
    polypeptide Q03358 UniProt | EBI | MGI Sequence Detail 267 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 136
      Genomic 13
      cDNA 45
      Primer pair 23
      Other 55

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10868, MGD-MRK-12571, MGI:2145474
    References
    more
    • Summaries
      All 526
      Developmental Gene Expression 395
      Diseases 3
      Gene Ontology 31
      Phenotypes 78
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:357409 Padmanabhan A, et al., A genome-wide CRISPR screen identifies BRD4 as a regulator of cardiomyocyte differentiation. Nat Cardiovasc Res. 2024 Mar;3(3):317-331
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory