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Aliases for EXT2 Gene

Aliases for EXT2 Gene

  • Exostosin Glycosyltransferase 2 2 3 5
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 3 4
  • N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase 2 3
  • Putative Tumor Suppressor Protein EXT2 3 4
  • Multiple Exostoses Protein 2 3 4
  • Exostosin-2 3 4
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N- Acetylglucosaminyltransferase 2
  • Exostoses (Multiple) 2 2
  • Multiple Exostosis 2 3
  • EC 2.4.1.224 4
  • EC 2.4.1.225 4
  • Exostosin 2 2
  • SOTV 3
  • SSMS 3

External Ids for EXT2 Gene

Previous GeneCards Identifiers for EXT2 Gene

  • GC11M045666
  • GC11P044802
  • GC11P044156
  • GC11P044081
  • GC11P044073
  • GC11P043826

Summaries for EXT2 Gene

Entrez Gene Summary for EXT2 Gene

  • 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]

GeneCards Summary for EXT2 Gene

EXT2 (Exostosin Glycosyltransferase 2) is a Protein Coding gene. Diseases associated with EXT2 include Seizures, Scoliosis, And Macrocephaly Syndrome and Exostoses, Multiple, Type Ii. Among its related pathways are Glycosaminoglycan metabolism and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring glycosyl groups. An important paralog of this gene is EXTL3.

UniProtKB/Swiss-Prot for EXT2 Gene

  • Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Wiki entry for EXT2 Gene

Additional gene information for EXT2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXT2 Gene

Genomics for EXT2 Gene

GeneHancer (GH) Regulatory Elements for EXT2 Gene

Promoters and enhancers for EXT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J044095 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 613 +0.7 677 2.4 ELF3 ZFX CTCF NKRF ZNF687 AHR PPARG ZNF639 GLIS2 POLR2A EXT2 ACCS ALKBH3 GC11P043987 GC11P044248
GH11J044094 Enhancer 0.6 ENCODE 605.2 -1.1 -1093 0.2 CTCF RAD21 SMARCA4 REST HDAC1 SOX6 CTBP1 SMC3 TARDBP RCOR1 EXT2 ACCS GC11P044088 GC11P043987
GH11J044524 Enhancer 1.2 Ensembl ENCODE 28.5 +432.8 432752 9.8 CC2D1A ZFX CTCF ZKSCAN8 CBFA2T2 MLLT1 GTF2F1 BACH1 MAFK TRIM24 SEC14L1P1 EXT2 ALKBH3 ENSG00000246250 ACCS ENSG00000255165 CD82 LOC105376646 PIR35111
GH11J044065 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.7 -28.6 -28601 3.3 CC2D1A SP1 ZFX NKRF MLLT1 ZNF121 GTF2F1 ZNF687 ZSCAN21 CTCF ACCS EXT2 C11orf96 ALKBH3-AS1 ENSG00000255165 GC11P043987
GH11J044560 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 +470.6 470577 10.5 SP1 ZFX CBFA2T2 ZNF148 NKRF MLLT1 ZNF121 POLR2A ZNF687 RELA CD82 ALKBH3 SEC14L1P1 ENSG00000254693 ENSG00000255092 EXT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EXT2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E47
  • Ik-2
  • NF-1
  • NF-1/L

Genomic Locations for EXT2 Gene

Genomic Locations for EXT2 Gene
chr11:44,095,549-44,245,430
(GRCh38/hg38)
Size:
149,882 bases
Orientation:
Plus strand
chr11:44,117,099-44,266,980
(GRCh37/hg19)
Size:
149,882 bases
Orientation:
Plus strand

Genomic View for EXT2 Gene

Genes around EXT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXT2 Gene

Proteins for EXT2 Gene

  • Protein details for EXT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93063-EXT2_HUMAN
    Recommended name:
    Exostosin-2
    Protein Accession:
    Q93063
    Secondary Accessions:
    • B2R5Z6
    • C9JU51
    • J3KPT2
    • O15288

    Protein attributes for EXT2 Gene

    Size:
    718 amino acids
    Molecular mass:
    82255 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Forms a homo/hetero-oligomeric complex with EXT1. Interacts with GALNT5. Interacts with NDST1.

    Alternative splice isoforms for EXT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXT2 Gene

Post-translational modifications for EXT2 Gene

  • Glycosylation at posLast=288288 and posLast=637637
  • Ubiquitination at isoforms=2, 3690, isoforms=2, 3494, posLast=245245, and posLast=168168
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EXT2 Gene

Domains & Families for EXT2 Gene

Gene Families for EXT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for EXT2 Gene

Suggested Antigen Peptide Sequences for EXT2 Gene

GenScript: Design optimal peptide antigens:
  • Exostoses (Multiple) 2, isoform CRA_a (D3DR24_HUMAN)
  • Putative tumor suppressor protein EXT2 (EXT2_HUMAN)
  • Exostoses (Multiple) 2 (Q6NUL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q93063

UniProtKB/Swiss-Prot:

EXT2_HUMAN :
  • Belongs to the glycosyltransferase 47 family.
Family:
  • Belongs to the glycosyltransferase 47 family.
genes like me logo Genes that share domains with EXT2: view

Function for EXT2 Gene

Molecular function for EXT2 Gene

UniProtKB/Swiss-Prot Function:
Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-{[(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc](n)-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-{alpha-D-GlcNAc-[(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc](n)-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:16213, Rhea:RHEA-COMP:12621, Rhea:RHEA-COMP:12623, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:132415, ChEBI:CHEBI:132416; EC=2.4.1.224;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-{alpha-D-GlcNAc-[(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc](n)-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-{[(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc](n+1)-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:20908, Rhea:RHEA-COMP:12623, Rhea:RHEA-COMP:14295, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132415, ChEBI:CHEBI:132416; EC=2.4.1.225;.
GENATLAS Biochemistry:
exostoses multiple gene 2,expressed in chondrocyte,accumulating in the Golgi network,forming a stable complex with EXT1 and catalyzing the synthesis of heparan sulfate,highly homologous to EXT1,interacting with B3GALT5 in normal type not in mutated form,mutated in EXT2 and having tumor suppressor function (see TSG11G)

Enzyme Numbers (IUBMB) for EXT2 Gene

Phenotypes From GWAS Catalog for EXT2 Gene

Gene Ontology (GO) - Molecular Function for EXT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18337501
GO:0008375 contributes_to acetylglucosaminyltransferase activity IDA,IEA 12907669
GO:0015020 glucuronosyltransferase activity IDA 12907669
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IDA 12907669
genes like me logo Genes that share ontologies with EXT2: view
genes like me logo Genes that share phenotypes with EXT2: view

Human Phenotype Ontology for EXT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EXT2 Gene

MGI Knock Outs for EXT2:
  • Ext2 Ext2<tm1Werb>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for EXT2
  • Applied Biological Materials (abm): Clones for EXT2 - Now 50% OFF >
  • * EXT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * EXT2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Transcription Factor Targets and HOMER Transcription for EXT2 Gene

Localization for EXT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXT2 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EXT2 gene
Compartment Confidence
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 3
mitochondrion 2
extracellular 1
nucleus 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane TAS 10639137
GO:0005794 Golgi apparatus ISS --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with EXT2: view

Pathways & Interactions for EXT2 Gene

genes like me logo Genes that share pathways with EXT2: view

UniProtKB/Swiss-Prot Q93063-EXT2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for EXT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IMP 9326317
GO:0001707 mesoderm formation IEA --
GO:0006024 glycosaminoglycan biosynthetic process TAS,IDA --
GO:0006486 protein glycosylation IEA --
GO:0007165 signal transduction TAS 10878610
genes like me logo Genes that share ontologies with EXT2: view

No data available for SIGNOR curated interactions for EXT2 Gene

Drugs & Compounds for EXT2 Gene

(3) Drugs for EXT2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0

(2) Additional Compounds for EXT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with EXT2: view

Transcripts for EXT2 Gene

mRNA/cDNA for EXT2 Gene

Unigene Clusters for EXT2 Gene

Exostosin glycosyltransferase 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for EXT2
  • Applied Biological Materials (abm): Clones for EXT2 - Now 50% OFF >
  • * EXT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * EXT2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for EXT2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: - - - - -
SP2: - - - - -
SP3:
SP4: -
SP5: -
SP6: -

Relevant External Links for EXT2 Gene

GeneLoc Exon Structure for
EXT2
ECgene alternative splicing isoforms for
EXT2

Expression for EXT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EXT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EXT2 Gene

This gene is overexpressed in Serum (28.8) and Amniocyte (28.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXT2 Gene



Protein tissue co-expression partners for EXT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EXT2 Gene:

EXT2

SOURCE GeneReport for Unigene cluster for EXT2 Gene:

Hs.368404

mRNA Expression by UniProt/SwissProt for EXT2 Gene:

Q93063-EXT2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for EXT2 Gene

  • Nervous system(4.8)
  • Skin(2.3)
  • Bone(2.2)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EXT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • penis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with EXT2: view

No data available for mRNA differential expression in normal tissues for EXT2 Gene

Orthologs for EXT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EXT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXT2 35 34
  • 99.54 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 99 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia EXT2 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXT2 35 34
  • 90.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ext2 34
  • 86.92 (n)
cow
(Bos Taurus)
Mammalia EXT2 35 34
  • 86.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ext2 17 35 34
  • 86.35 (n)
chicken
(Gallus gallus)
Aves EXT2 35 34
  • 77.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXT2 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ext2 34
  • 75.49 (n)
zebrafish
(Danio rerio)
Actinopterygii ext2 35 34
  • 74.19 (n)
OneToOne
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7391 34
fruit fly
(Drosophila melanogaster)
Insecta Ext2 35 34
  • 54.85 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000081 34
  • 54.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
ManyToMany
-- 35
  • 41 (a)
ManyToMany
Species where no ortholog for EXT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EXT2 Gene

ENSEMBL:
Gene Tree for EXT2 (if available)
TreeFam:
Gene Tree for EXT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXT2: view image

Paralogs for EXT2 Gene

Paralogs for EXT2 Gene

(4) SIMAP similar genes for EXT2 Gene using alignment to 5 proteins:

  • EXT2_HUMAN
  • D3DR24_HUMAN
  • E9PJA5_HUMAN
  • E9PNL9_HUMAN
  • Q6NUL1_HUMAN
genes like me logo Genes that share paralogs with EXT2: view

Variants for EXT2 Gene

Sequence variations from dbSNP and Humsavar for EXT2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs10458911 benign, Hereditary Multiple Osteochondromatosis 44,095,552(+) T/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1057521132 pathogenic, likely-pathogenic, not provided 44,109,284(+) G/A/T splice_donor_variant
rs111589746 benign, uncertain-significance, not specified, Hereditary Multiple Osteochondromatosis 44,108,232(+) A/C/T coding_sequence_variant, missense_variant
rs115238130 likely-benign, Hereditary Multiple Osteochondromatosis 44,095,735(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs117755165 likely-benign, Hereditary Multiple Osteochondromatosis 44,244,388(+) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EXT2 Gene

Variant ID Type Subtype PubMed ID
esv3579496 CNV loss 25503493
esv3626159 CNV loss 21293372
nsv1043523 CNV gain 25217958
nsv554183 CNV gain 21841781
nsv832139 CNV loss 17160897

Variation tolerance for EXT2 Gene

Residual Variation Intolerance Score: 81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXT2
Human Gene Mutation Database (HGMD)
EXT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXT2 Gene

Disorders for EXT2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for EXT2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search EXT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EXT2_HUMAN
  • Hereditary multiple exostoses 2 (EXT2) [MIM:133701]: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. {ECO:0000269 PubMed:10429361, ECO:0000269 PubMed:10480354, ECO:0000269 PubMed:10738008, ECO:0000269 PubMed:11169766, ECO:0000269 PubMed:11170095, ECO:0000269 PubMed:11432960, ECO:0000269 PubMed:11668521, ECO:0000269 PubMed:19344451, ECO:0000269 PubMed:9326317}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Seizures, scoliosis, and macrocephaly syndrome (SSMS) [MIM:616682]: An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction. {ECO:0000269 PubMed:26246518}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for EXT2 Gene

exostoses,multiple,congenital,2,also associated with foramina parietalia permagma,craniosynostosis,micropenis,mental retardation in a contiguous gene syndrome with 11p-deletion (DEF11S)

Additional Disease Information for EXT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EXT2: view

Publications for EXT2 Gene

  1. Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. (PMID: 10679296) Kobayashi S … Shirasawa T (Biochemical and biophysical research communications 2000) 3 4 23 45 58
  2. New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. (PMID: 19344451) Heinritz W … Froster UG (Annals of human genetics 2009) 3 4 23 58
  3. Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. (PMID: 17928989) Horikoshi M … Kadowaki T (Diabetologia 2007) 3 23 45 58
  4. An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. (PMID: 16283885) Wuyts W … Vits L (Clinical genetics 2005) 3 23 45 58
  5. Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. (PMID: 15586175) Vink GR … Bakker E (European journal of human genetics : EJHG 2005) 3 23 45 58

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