Extl2 MGI Mouse Gene Detail - MGI:1889574 - exostosin-like glycosyltransferase 2

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

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

SNPs within 2kb

746 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:3516

NCBI Gene ID: 2135

neXtProt AC: NX_Q9UBQ6

UniProt: Q9UBQ6
Chr Location

1p21.2; chr1:100872372-100895179 (-) GRCh38

MGI Vertebrate Homology

Extl2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EXTL2
Gene Tree

Extl2

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References

1 with disease annotations

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
15 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

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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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase extl2

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All Sequences

64
RefSeq

14
UniProt

6
CCDS

CCDS17784.1, CCDS51057.1

Ensembl

ENSMUSG00000027963 (Evidence)
NCBI Gene

58193

			Length	Strain/Species	Flank
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

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UniProt

6 Sequences
Protein Ontology

PR:000007271 exostosin-like 2

(term hierarchy)
PDB

1OMX, 1OMZ, 1ON6, 1ON8
EC

2.4.1.223
InterPro Domains

IPR015338 Glycosyl transferase 64 domain

IPR052427 Glycosyltransferase family GT2 and GT47

IPR029044 Nucleotide-diphospho-sugar transferases
GlyGen

Q9ES89 1 site, 1 N-linked glycan (1 site)

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All nucleic 57

cDNA 54

Primer pair 3

Microarray probesets 2

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MGI:1926138, MGI:2139976

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

TSS for Extl2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr31345	Chr3:115801106-115801189 (+)	37 bp
Tssr31346	Chr3:115801384-115801414 (+)	288 bp
Tssr31347	Chr3:115801489-115801496 (+)	382 bp
Tssr31348	Chr3:115801974-115802021 (+)	887 bp
Tssr31349	Chr3:115802024-115802051 (+)	927 bp
Tssr31350	Chr3:115802053-115802064 (+)	948 bp

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)
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