About   Help   FAQ
Ext2 Gene Detail
Summary
  • Symbol
    Ext2
  • Name
    exostosin glycosyltransferase 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:108050
    NCBI Gene: 14043
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:93525978-93652913 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 51.62 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3473 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108050
 protein coding gene Chr2:93491373-93652913 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026178
 protein coding gene Chr2:95175869-95344381 (-)
A/J MGP_AJ_G0026139
 protein coding gene Chr2:91302546-91468665 (-)
AKR/J MGP_AKRJ_G0026120
 protein coding gene Chr2:93868697-94037130 (-)
BALB/cJ MGP_BALBcJ_G0026148
 protein coding gene Chr2:91500803-91664908 (-)
C3H/HeJ MGP_C3HHeJ_G0025899
 protein coding gene Chr2:94143751-94312601 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026599
 protein coding gene Chr2:98417711-98587180 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023990
 protein coding gene Chr2:87785301-87947511 (-)
CAST/EiJ MGP_CASTEiJ_G0025364
 protein coding gene Chr2:94735196-94906251 (-)
CBA/J MGP_CBAJ_G0025877
 protein coding gene Chr2:101846573-102030077 (-)
DBA/2J MGP_DBA2J_G0026013
 protein coding gene Chr2:90913628-91076284 (-)
FVB/NJ MGP_FVBNJ_G0025976
 protein coding gene Chr2:90034847-90198718 (-)
LP/J MGP_LPJ_G0026117
 protein coding gene Chr2:95366666-95538873 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026002
 protein coding gene Chr2:104748382-104923004 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026653
 protein coding gene Chr2:93944773-94111654 (-)
PWK/PhJ MGP_PWKPhJ_G0025099
 protein coding gene Chr2:90662917-90827703 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024900
 protein coding gene Chr2:93508133-93672716 (-)
WSB/EiJ MGP_WSBEiJ_G0025431
 protein coding gene Chr2:94560638-94727401 (-)



Homology
more
  • Human Ortholog
    EXT2, exostosin glycosyltransferase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EXT2, exostosin glycosyltransferase 2
  • Synonyms
    SOTV, SSMS
  • Links
    NCBI Gene ID: 2132
    neXtProt AC: NX_Q93063
    UniProt: Q93063

  • Chr Location
    11p11.2; chr11:44095648-44251962 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ext2 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
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
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    22 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.
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
less
  • All GO Annotations
    57
  • GO References
    11
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
    887
  • Tissues
    163
  • cDNA Data
    117
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14043 NCBI Gene Model | MGI Sequence Detail 126936 C57BL/6J ±  kb
    transcript NM_001355076 RefSeq | MGI Sequence Detail 3749 C57BL/6  
    polypeptide P70428 UniProt | EBI | MGI Sequence Detail 718 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 120
      cDNA 118
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-37086, MGI:2139111
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 11
      Phenotypes 22
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:297362 Bachvarova V, et al., Chondrocytes respond to an altered heparan sulfate composition with distinct changes of heparan sulfate structure and increased levels of chondroitin sulfate. Matrix Biol. 2020 Nov;93:43-59
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory