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EXT2 exostosin glycosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 2132, updated on 23-May-2015
Official Symbol
EXT2provided by HGNC
Official Full Name
exostosin glycosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:3513
See related
Ensembl:ENSG00000151348; HPRD:00599; MIM:608210; Vega:OTTHUMG00000166498
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SOTV
Summary
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Orthologs
See EXT2 in MapViewer
Location:
11p12-p11
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (44095549..44245430)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (44117099..44266980)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene chromosome 11 open reading frame 96 Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) Neighboring gene ALX homeobox 4 Neighboring gene uncharacterized LOC105376645

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Multiple exostoses type 2 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-08)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-08)

ClinGen Genome Curation PagePubMed
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cellular polysaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
glycosaminoglycan biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
heparan sulfate proteoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
UDP-N-acetylglucosamine transferase complex IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
exostosin-2
Names
exostosin-2
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
multiple exostoses protein 2
putative tumor suppressor protein EXT2
NP_000392.3
NP_001171554.1
NP_997005.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007560.1 RefSeqGene

    Range
    5001..154882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_494

mRNA and Protein(s)

  1. NM_000401.3NP_000392.3  exostosin-2 isoform 1

    See identical proteins and their annotated locations for NP_000392.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC068457, AC103854, BE348865, BX648142, DA738392
    Consensus CDS
    CCDS53618.1
    UniProtKB/Swiss-Prot
    Q93063
    Related
    ENSP00000379032, ENST00000395673
    Conserved Domains (2) summary
    pfam03016
    Location:133413
    Exostosin; Exostosin family
    pfam09258
    Location:489734
    Glyco_transf_64; Glycosyl transferase family 64 domain
  2. NM_001178083.1NP_001171554.1  exostosin-2 isoform 3

    See identical proteins and their annotated locations for NP_001171554.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
    Source sequence(s)
    AC068457, AC103854, BE348865, BX648142, U62740, U72263
    Consensus CDS
    CCDS53619.1
    UniProtKB/Swiss-Prot
    Q93063
    Related
    ENSP00000351509, OTTHUMP00000233077, ENST00000358681, OTTHUMT00000390073
    Conserved Domains (2) summary
    pfam03016
    Location:100380
    Exostosin; Exostosin family
    pfam09258
    Location:466711
    Glyco_transf_64; Glycosyl transferase family 64 domain
  3. NM_207122.1NP_997005.1  exostosin-2 isoform 2

    See identical proteins and their annotated locations for NP_997005.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is the predominant transcript and differs in the 5' UTR and coding region, compared to variant 1. These differences causes translation initiation at a downstream start codon and result in isoform (2) which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BM997250, U62740
    Consensus CDS
    CCDS7908.1
    UniProtKB/Swiss-Prot
    Q93063
    Related
    ENSP00000431173, OTTHUMP00000233074, ENST00000533608, OTTHUMT00000390069
    Conserved Domains (2) summary
    pfam03016
    Location:100380
    Exostosin; Exostosin family
    pfam09258
    Location:456701
    Glyco_transf_64; Glycosyl transferase family 64 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    44095549..44245430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519951.1XP_011518253.1  

    See identical proteins and their annotated locations for XP_011518253.1

    Conserved Domains (2) summary
    pfam03016
    Location:113393
    Exostosin; Exostosin family
    pfam09258
    Location:469714
    Glyco_transf_64; Glycosyl transferase family 64 domain
  2. XM_011519950.1XP_011518252.1  

    Conserved Domains (2) summary
    pfam03016
    Location:146426
    Exostosin; Exostosin family
    pfam09258
    Location:502747
    Glyco_transf_64; Glycosyl transferase family 64 domain

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    44116142..44266006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)