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Extl2 Gene Detail
Summary
  • Symbol
    Extl2
  • Name
    exostosin-like glycosyltransferase 2
  • Synonyms
    3000001D04Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1889574
    NCBI Gene: 58193
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:115801111-115822666 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 50.17 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    746 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1889574
 protein coding gene Chr3:115801083-115822666 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027806
 protein coding gene Chr3:117880657-117904372 (+)
A/J MGP_AJ_G0027764
 protein coding gene Chr3:114020114-114041627 (+)
AKR/J MGP_AKRJ_G0027730
 protein coding gene Chr3:116888217-116909716 (+)
BALB/cJ MGP_BALBcJ_G0027776
 protein coding gene Chr3:113869790-113890634 (+)
C3H/HeJ MGP_C3HHeJ_G0027507
 protein coding gene Chr3:117265488-117285415 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028222
 protein coding gene Chr3:122212952-122232923 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025561
 protein coding gene Chr3:109713355-109733372 (+)
CAST/EiJ MGP_CASTEiJ_G0026963
 protein coding gene Chr3:116535658-116562824 (+)
CBA/J MGP_CBAJ_G0027482
 protein coding gene Chr3:126375078-126395573 (+)
DBA/2J MGP_DBA2J_G0027623
 protein coding gene Chr3:113263761-113284000 (+)
FVB/NJ MGP_FVBNJ_G0027591
 protein coding gene Chr3:110902205-110921988 (+)
LP/J MGP_LPJ_G0027733
 protein coding gene Chr3:119420506-119442167 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027621
 protein coding gene Chr3:133753135-133778825 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028278
 protein coding gene Chr3:116450945-116471904 (+)
PWK/PhJ MGP_PWKPhJ_G0026689
 protein coding gene Chr3:112895475-112917107 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026511
 protein coding gene Chr3:114457212-114477464 (+)
WSB/EiJ MGP_WSBEiJ_G0027043
 protein coding gene Chr3:117124442-117153565 (+)



Homology
more
  • Human Ortholog
    EXTL2, exostosin like glycosyltransferase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EXTL2, exostosin like glycosyltransferase 2
  • Synonyms
    EXTR2
  • Links
    NCBI Gene ID: 2135
    neXtProt AC: NX_Q9UBQ6
    UniProt: Q9UBQ6

  • Chr Location
    1p21.2; chr1:100872372-100895179 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    15 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
    6
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Extl2
  • Incidental Mutations
    Mutagenetix , APF
  • Find Mice (IMSR)
    16 strains or lines available
Mice homozygous for a knock-out allele exhibit increased production of heparin sulfate and chondroitin sulfate in mouse embryonic fibroblasts, liver and brain.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    18
  • GO References
    6
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
    838
  • Tissues
    112
  • cDNA Data
    54
  • Literature Summary
    4
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000027963 Ensembl Gene Model | MGI Sequence Detail 21556 C57BL/6J ±  kb
transcript ENSMUST00000029575 Ensembl | MGI Sequence Detail 3000 Not Applicable  
polypeptide ENSMUSP00000029575 Ensembl | MGI Sequence Detail 330 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 57
    cDNA 54
    Primer pair 3

    Microarray probesets 2
Other
Accession IDs
less
MGI:1926138, MGI:2139976
References
more
  • Summaries
    All 44
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 6
    Phenotypes 15
  • Earliest
    J:64307 Wuyts W, et al., Characterization and genomic localization of the mouse Extl2 gene. Cytogenet Cell Genet. 2000;89(3-4):185-8
  • Latest
    J:313537 Pu A, et al., The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination. J Neuroinflammation. 2020 Jul 23;17(1):220
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