The EXT2 gene homepage

A Multiple Osteochondroma Mutation Database
General information
Gene symbol EXT2
Gene name exostosin 2
Chromosome 11
Chromosomal band p12-p11
Imprinted Unknown
Genomic reference NG_007560.1
Transcript reference NM_000401.3, NM_207122.1
Exon/intron information NM_000401.3 exon/intron table
Associated with diseases chondrosarcoma, EXT, EXT-2, SSMS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Wim Wuyts
Total number of public variants reported 451
Unique public DNA variants reported 427
Individuals with public variants 418
Hidden variants 2
Download all this gene's data Download all data
Notes The Multiple Osteochondroma Mutation Database for EXT2 was initiated with the support of the EuroBoNeT consortium, a European Commission granted Network of Excellence for studying the pathology and genetics of bone tumours.
Date created December 06, 2008
Date last updated September 17, 2021
Version EXT2:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000401.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL GeneTests
HGNC 3513
Entrez Gene 2132
PubMed articles EXT2
OMIM - Gene 608210
OMIM - Diseases chondrosarcoma
EXT-2 (exostoses, multiple, type 2 (EXT-2))
SSMS (seizures, scoliosis, and macrocephaly syndrome (SSMS))
GeneCards EXT2
GeneTests EXT2
Orphanet EXT2

Active transcripts




NCBI ID     

NCBI Protein ID     

00025230 11 exostosin glycosyltransferase 2, transcript variant 2 NM_207122.1 NP_997005.1 447
00007321 11 transcript variant 1 NM_000401.3 NP_000392.3 63

Copyright & disclaimer
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