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Aliases for EXT1 Gene

Aliases for EXT1 Gene

  • Exostosin Glycosyltransferase 1 2 3 5
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 3 4
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N- Acetylglucosaminyltransferase 2 3
  • N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase 2 3
  • Langer-Giedion Syndrome Chromosome Region 2 3
  • Putative Tumor Suppressor Protein EXT1 3 4
  • Multiple Exostoses Protein 1 3 4
  • Exostoses (Multiple) 1 2 3
  • EC 4
  • EC 4
  • Exostosin-1 3
  • Exostosin 1 2
  • TRPS2 3
  • LGCR 3
  • EXT 3
  • TTV 3
  • LGS 3

External Ids for EXT1 Gene

Previous HGNC Symbols for EXT1 Gene

  • LGCR
  • LGS

Previous GeneCards Identifiers for EXT1 Gene

  • GC08M118872
  • GC08M118480
  • GC08M118768
  • GC08M118880
  • GC08M114138

Summaries for EXT1 Gene

Entrez Gene Summary for EXT1 Gene

  • This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]

GeneCards Summary for EXT1 Gene

EXT1 (Exostosin Glycosyltransferase 1) is a Protein Coding gene. Diseases associated with EXT1 include Exostoses, Multiple, Type I and Chondrosarcoma. Among its related pathways are heparan sulfate biosynthesis and Metabolism. 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 EXTL1.

UniProtKB/Swiss-Prot for EXT1 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 EXT1 Gene

Additional gene information for EXT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXT1 Gene

Genomics for EXT1 Gene

GeneHancer (GH) Regulatory Elements for EXT1 Gene

Promoters and enhancers for EXT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J118106 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.5 1549 7.7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 IRF4 YY1 ZNF143 EXT1 GC08M118075
GH08J117954 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.1 +154.8 154795 6 ZBTB21 JUN STAT5A EBF1 ETS1 ZNF664 ZNF121 GATA3 POLR2A ZNF366 EXT1 MED30 GC08M117980 GC08P117918
GH08J118008 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14 +100.8 100831 6 SIN3A RAD21 YY1 EGR1 ZNF143 RCOR1 FOS THAP11 SMARCA5 RXRA EXT1 GC08M117980 GC08M118034
GH08J117519 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.4 +590.9 590874 2.4 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF213 E2F8 MED30 LOC105375716 UTP23 EIF3H EXT1 RPS10P16
GH08J117945 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +164.6 164563 3.1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF48 ETS1 YY1 EXT1 GC08P117918 GC08M117980
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EXT1 gene promoter:
  • Nkx2-5
  • Arnt
  • AhR
  • Egr-3
  • oct-B3
  • POU2F1a
  • POU2F1
  • oct-B2
  • Oct-B1
  • POU2F2

Genomic Locations for EXT1 Gene

Genomic Locations for EXT1 Gene
317,364 bases
Minus strand
317,364 bases
Minus strand

Genomic View for EXT1 Gene

Genes around EXT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXT1 Gene

Proteins for EXT1 Gene

  • Protein details for EXT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R7V2
    • Q9BVI9

    Protein attributes for EXT1 Gene

    746 amino acids
    Molecular mass:
    86255 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Forms a homo/hetero-oligomeric complex with EXT2.

neXtProt entry for EXT1 Gene

Post-translational modifications for EXT1 Gene

  • Glycosylation at isoforms=330 and Asn89
  • Modification sites at PhosphoSitePlus

Other Protein References for EXT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EXT1 Gene

Domains & Families for EXT1 Gene

Gene Families for EXT1 Gene

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

Protein Domains for EXT1 Gene

Suggested Antigen Peptide Sequences for EXT1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 47 family.
  • Belongs to the glycosyltransferase 47 family.
genes like me logo Genes that share domains with EXT1: view

Function for EXT1 Gene

Molecular function for EXT1 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:
UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucuronate + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.
GENATLAS Biochemistry:
exostoses multiple gene 1,transmembrane glycoprotein,housekeeping gene ubiquitously expressed,localized to the rough endoplasmic reticulum (ER), accumulating in the Golgi network,forming a stable complex with EXT2 and catalyzing the synthesis of heparan sulfate,homolog to EXT2,80 kDa,mutated in EXT1 and having tumor suppressor function (see TSG8C),

Enzyme Numbers (IUBMB) for EXT1 Gene

Phenotypes From GWAS Catalog for EXT1 Gene

Gene Ontology (GO) - Molecular Function for EXT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IDA 12907669
GO:0015020 glucuronosyltransferase activity IEA,IDA 12907669
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA,IDA 12907669
GO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity NAS 12907669
genes like me logo Genes that share ontologies with EXT1: view
genes like me logo Genes that share phenotypes with EXT1: view

Human Phenotype Ontology for EXT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EXT1 Gene

MGI Knock Outs for EXT1:
  • Ext1 Ext1<tm1.1Lex>
  • Ext1 Ext1<tm1.1Yama>
  • Ext1 Ext1<tm1.2Vcs>
  • Ext1 Ext1<tm1Dews>

Animal Model Products

  • Taconic Biosciences Mouse Models for EXT1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for EXT1 Gene

Localization for EXT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXT1 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

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 EXT1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
extracellular 2
plasma membrane 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EXT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS 12907669
GO:0005783 endoplasmic reticulum IDA,IEA 9620772
GO:0005789 endoplasmic reticulum membrane NAS,TAS 9620772
GO:0005794 Golgi apparatus IDA 10639137
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EXT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EXT1 Gene

Pathways & Interactions for EXT1 Gene

genes like me logo Genes that share pathways with EXT1: view

UniProtKB/Swiss-Prot Q16394-EXT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for EXT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9620772
GO:0001503 ossification IMP 7550340
GO:0006024 glycosaminoglycan biosynthetic process IDA,TAS --
GO:0006486 protein glycosylation IEA --
GO:0007165 signal transduction TAS 10878610
genes like me logo Genes that share ontologies with EXT1: view

No data available for SIGNOR curated interactions for EXT1 Gene

Drugs & Compounds for EXT1 Gene

(5) Drugs for EXT1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxitriptan Approved, Investigational Nutra Inhibition, Inhibitor, Target 0
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0

(3) Additional Compounds for EXT1 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
genes like me logo Genes that share compounds with EXT1: view

Transcripts for EXT1 Gene

mRNA/cDNA for EXT1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(278) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EXT1 Gene

Exostosin glycosyltransferase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EXT1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP3: - - -

Relevant External Links for EXT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EXT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EXT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EXT1 Gene

This gene is overexpressed in Artery - Aorta (x5.2).

Protein differential expression in normal tissues from HIPED for EXT1 Gene

This gene is overexpressed in Testis (37.3), Gallbladder (19.1), and Islet of Langerhans (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXT1 Gene

Protein tissue co-expression partners for EXT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EXT1 Gene:


SOURCE GeneReport for Unigene cluster for EXT1 Gene:


mRNA Expression by UniProt/SwissProt for EXT1 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for EXT1 Gene

  • Nervous system(4.7)
  • Lung(4.5)
  • Muscle(2.4)
  • Bone(2.3)
  • Heart(2.3)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EXT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
  • kidney
  • pelvis
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with EXT1: view

Orthologs for EXT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EXT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EXT1 34 33
  • 99.82 (n)
(Ornithorhynchus anatinus)
Mammalia EXT1 34
  • 98 (a)
(Monodelphis domestica)
Mammalia EXT1 34
  • 97 (a)
(Canis familiaris)
Mammalia EXT1 34 33
  • 96.69 (n)
(Bos Taurus)
Mammalia EXT1 34 33
  • 96.56 (n)
(Rattus norvegicus)
Mammalia Ext1 33
  • 95.98 (n)
(Mus musculus)
Mammalia Ext1 16 34 33
  • 95.84 (n)
(Gallus gallus)
Aves -- 34
  • 91 (a)
LOC100858205 33
  • 85.86 (n)
-- 34
  • 84 (a)
(Anolis carolinensis)
Reptilia EXT1 34
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ext1 33
  • 82.57 (n)
Str.4465 33
(Danio rerio)
Actinopterygii EXT1 (4 of 4) 34
  • 88 (a)
ext1a 34
  • 85 (a)
ext1b 33
  • 76.07 (n)
EXT1 (1 of 4) 34
  • 73 (a)
EXT1 (3 of 4) 34
  • 65 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6102 33
fruit fly
(Drosophila melanogaster)
Insecta ttv 34 35 33
  • 58.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010388 33
  • 49.08 (n)
(Caenorhabditis elegans)
Secernentea rib-1 34 35 33
  • 52.58 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1939 34
  • 51 (a)
Species where no ortholog for EXT1 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)

Evolution for EXT1 Gene

Gene Tree for EXT1 (if available)
Gene Tree for EXT1 (if available)
Evolutionary constrained regions (ECRs) for EXT1: view image

Paralogs for EXT1 Gene

Paralogs for EXT1 Gene

(2) SIMAP similar genes for EXT1 Gene using alignment to 7 proteins:

  • F8WF54_HUMAN
  • H7C1H6_HUMAN
  • S5Y321_HUMAN
genes like me logo Genes that share paralogs with EXT1: view

Variants for EXT1 Gene

Sequence variations from dbSNP and Humsavar for EXT1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000714834 uncertain-significance, Hereditary Multiple Osteochondromatosis 117,799,630(-) G/A/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1027376178 uncertain-significance, Hereditary Multiple Osteochondromatosis 118,111,175(-) T/A/C 5_prime_UTR_variant, non_coding_transcript_variant
rs1040607542 uncertain-significance, Hereditary Multiple Osteochondromatosis 118,111,103(-) C/G 5_prime_UTR_variant, non_coding_transcript_variant
rs112317221 benign, Hereditary Multiple Osteochondromatosis 118,111,820(-) G/C upstream_transcript_variant
rs11546829 benign, not specified, Hereditary Multiple Osteochondromatosis 117,835,543(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for EXT1 Gene

Variant ID Type Subtype PubMed ID
dgv12289n54 CNV loss 21841781
dgv12290n54 CNV loss 21841781
dgv12291n54 CNV loss 21841781
dgv2110e212 CNV loss 25503493
dgv2111e212 CNV loss 25503493
dgv252n6 CNV deletion 16902084
dgv3890n106 OTHER inversion 24896259
dgv3891n106 CNV deletion 24896259
esv1925197 CNV deletion 18987734
esv2447144 CNV deletion 19546169
esv2606814 CNV deletion 19546169
esv2664743 CNV deletion 23128226
esv2668860 CNV deletion 23128226
esv2678041 CNV deletion 23128226
esv2737477 CNV deletion 23290073
esv2737478 CNV deletion 23290073
esv2752195 CNV gain 17911159
esv29814 CNV loss 19812545
esv3392490 CNV insertion 20981092
esv3544089 CNV deletion 23714750
esv3544091 CNV deletion 23714750
esv3572952 CNV loss 25503493
esv3572954 CNV loss 25503493
esv3572957 CNV loss 25503493
esv3572958 CNV loss 25503493
esv3572959 CNV loss 25503493
esv3576602 CNV gain 25503493
esv3618562 CNV loss 21293372
esv3618564 CNV loss 21293372
esv3618565 CNV loss 21293372
esv3618567 CNV loss 21293372
esv7867 CNV loss 19470904
nsv1025002 CNV loss 25217958
nsv1030459 CNV gain 25217958
nsv1075167 CNV deletion 25765185
nsv1122199 CNV deletion 24896259
nsv1144232 CNV deletion 24896259
nsv1147523 CNV deletion 26484159
nsv465785 CNV loss 19166990
nsv512062 CNV loss 21212237
nsv512063 CNV loss 21212237
nsv513684 OTHER inversion 21212237
nsv513685 OTHER inversion 21212237
nsv515058 CNV gain+loss 21397061
nsv526044 CNV loss 19592680
nsv612026 CNV loss 21841781
nsv612027 CNV loss 21841781
nsv612034 CNV loss 21841781
nsv612035 CNV loss 21841781
nsv612045 CNV loss 21841781
nsv612046 CNV loss 21841781
nsv612047 CNV gain 21841781
nsv820050 CNV gain 19587683
nsv821660 CNV loss 15273396
nsv831438 CNV loss 17160897
nsv831439 CNV gain 17160897
nsv831440 CNV gain 17160897
nsv831441 CNV gain 17160897
nsv957689 CNV deletion 24416366

Variation tolerance for EXT1 Gene

Residual Variation Intolerance Score: 3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXT1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXT1 Gene

Disorders for EXT1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for EXT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
exostoses, multiple, type i
  • ext; ext1
  • chondrosarcoma of bone
trichorhinophalangeal syndrome, type ii
  • trps2
hereditary multiple exostoses
  • hereditary multiple exostoses 1
  • bone spur
- elite association - COSMIC cancer census association via MalaCards
Search EXT1 in MalaCards View complete list of genes associated with diseases


  • Hereditary multiple exostoses 1 (EXT1) [MIM:133700]: 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:10441575, ECO:0000269 PubMed:10480354, ECO:0000269 PubMed:11169766, ECO:0000269 PubMed:8981950, ECO:0000269 PubMed:9326317, ECO:0000269 PubMed:9463333, ECO:0000269 PubMed:9521425, ECO:0000269 Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tricho-rhino-phalangeal syndrome 2 (TRPS2) [MIM:150230]: A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.
  • Chondrosarcoma (CHDSA) [MIM:215300]: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for EXT1 Gene

exostoses,multiple,1,also associated with trichorhinophalangeal syndrome in Langer-Giedion syndrome (see LGCR)

Additional Disease Information for EXT1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EXT1: view

Publications for EXT1 Gene

  1. 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 22 44 58
  2. 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 22 44 58
  3. Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. (PMID: 11169766) Bernard MA … Hecht JT (Cell motility and the cytoskeleton 2001) 3 4 22 58
  4. Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. (PMID: 11391482) Cheung PK … Duncan G (American journal of human genetics 2001) 3 4 22 58
  5. 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 22 58

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