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Ext2 Gene Detail
Summary
  • Symbol
    Ext2
  • Name
    exostoses (multiple) 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:108050
    NCBI Gene: 14043
  • Gene Overview
    MyGene.info: EXT2
Location & Maps
more
  • Sequence Map
    Chr2:93661028-93822568 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      161541 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 51.62 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    EXT2, exostosin glycosyltransferase 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EXT2, exostosin glycosyltransferase 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    SOTV, SSMS
  • Links
    NCBI Gene ID: 2132
    neXtProt AC: NX_Q93063

  • Chr Location
    11p12-p11; chr11:44095549-44245430 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 345
    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: EXT2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ext2 mouse models; 2 with human EXT2 associations

Human Disease Mouse Models
       Exostoses, Multiple, Type II   OMIM: 133701 View 1 model
       Seizures, Scoliosis, and Macrocephaly Syndrome; SSMS   OMIM: 616682
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    16 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
    12
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    7
  • Transgenic
    1
  • Genomic Mutations
    4 involving Ext2
  • Incidental Mutations
Homozygous null embryos lack heparan sulfate, initiate primitive streak formation but fail to form mesoderm, become growth arrested and die around gastrulation. Heterozygotes show various abnormalities in cartilage differentiation; about one-third form one or more exostoses on the ribs.
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014564 VEGA Gene Model | MGI Sequence Detail 161541 C57BL/6J ±  kb
transcript OTTMUST00000034531 VEGA | MGI Sequence Detail 2871 Not Applicable  
polypeptide OTTMUSP00000015455 VEGA | MGI Sequence Detail 718 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1162 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 119
    cDNA 117
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-37086, MGI:2139111
References
more
  • Summaries
    All 47
    Developmental Gene Expression 8
    Diseases 1
    Gene Ontology 5
    Phenotypes 16
  • Earliest
    J:48118 Hennekam RC, Hereditary multiple exostoses. J Med Genet. 1991 Apr;28(4):262-6
  • Latest
    J:229211 Xiong A, et al., Heparan sulfate in the regulation of neural differentiation and glioma development. FEBS J. 2014 Nov;281(22):4993-5008

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory