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Aliases for EXTL3 Gene

Aliases for EXTL3 Gene

  • Exostosin Like Glycosyltransferase 3 2 3 5
  • Glucuronyl-Galactosyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 2 3 4
  • Hereditary Multiple Exostoses Gene Isolog 3 4
  • Putative Tumor Suppressor Protein EXTL3 3 4
  • Exostoses (Multiple)-Like 3 2 3
  • EXTL1L 3 4
  • EXTR1 3 4
  • Multiple Exostosis-Like Protein 3 4
  • Exostosin Tumor-Like 3 3
  • EXT-Related Protein 1 4
  • Exostosin-Like 3 3
  • EXT-Related 1 3
  • REG Receptor 2
  • Reg Receptor 3
  • EC 4
  • KIAA0519 4
  • ISDNA 3
  • BOTV 3
  • REGR 3
  • RPR 3

External Ids for EXTL3 Gene

Previous GeneCards Identifiers for EXTL3 Gene

  • GC08P028342
  • GC08P029064
  • GC08P028581
  • GC08P027104
  • GC08P028457

Summaries for EXTL3 Gene

Entrez Gene Summary for EXTL3 Gene

  • This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]

GeneCards Summary for EXTL3 Gene

EXTL3 (Exostosin Like Glycosyltransferase 3) is a Protein Coding gene. Diseases associated with EXTL3 include Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities and Hereditary Multiple Exostoses. Among its related pathways are heparan sulfate biosynthesis and Metabolism. GO annotations related to this gene include transferase activity, transferring hexosyl groups and glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. An important paralog of this gene is EXT2.

UniProtKB/Swiss-Prot for EXTL3 Gene

  • Probable glycosyltransferase (By similarity). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation.

Gene Wiki entry for EXTL3 Gene

Additional gene information for EXTL3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXTL3 Gene

Genomics for EXTL3 Gene

Regulatory Elements for EXTL3 Gene

Enhancers for EXTL3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H028707 1.5 FANTOM5 Ensembl ENCODE 18.4 +108.4 108390 3.3 PKNOX1 FEZF1 ZNF366 ZSCAN5C SCRT2 EGR2 SMARCA5 ZNF362 CEBPB ZEB2 EXTL3 EXTL3-AS1 PIR55838
GH08H028711 1.4 FANTOM5 Ensembl ENCODE 17.7 +112.6 112645 3.7 HDAC1 FOXA2 BATF ATF7 CEBPB JUNB MEF2D NFIC SMARCA4 ZNF24 EXTL3 EXTL3-AS1 INTS9-AS1 INTS9 FZD3 ZNF395 PIR55838
GH08H028621 1.4 Ensembl ENCODE 16.8 +23.3 23325 4.4 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 CBX5 ZNF207 ZNF143 FOS EXTL3 ENSG00000259366 LOC105379345 GC08P028669
GH08H028699 1 ENCODE 15.8 +101.6 101596 4.6 PKNOX1 SIN3A ZNF2 YY1 SLC30A9 ZNF766 ELK1 ZNF143 ATF7 RUNX3 EXTL3-AS1 INTS9 EXTL3 INTS9-AS1 KIF13B ENSG00000254129 PIR55838
GH08H028346 1.4 Ensembl ENCODE dbSUPER 10 -250.3 -250334 7.9 TBP HDGF PKNOX1 SIN3A ZBTB7B ZNF121 HSF1 ZNF143 FOS IKZF2 FZD3 INTS9 FBXO16 EXTL3 NUGGC PNOC PIR39512 ZNF395
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EXTL3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EXTL3 Gene

Genomic Locations for EXTL3 Gene
155,131 bases
Plus strand

Genomic View for EXTL3 Gene

Genes around EXTL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXTL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXTL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXTL3 Gene

Proteins for EXTL3 Gene

  • Protein details for EXTL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Exostosin-like 3
    Protein Accession:
    Secondary Accessions:
    • D3DST8
    • O00225
    • Q53XT3

    Protein attributes for EXTL3 Gene

    919 amino acids
    Molecular mass:
    104749 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with REG3A.
    • Sequence=BAA25445.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for EXTL3 Gene

Post-translational modifications for EXTL3 Gene

  • Glycosylation at isoforms=277, posLast=290290, posLast=592592, and posLast=790790
  • Modification sites at PhosphoSitePlus

Other Protein References for EXTL3 Gene

No data available for DME Specific Peptides for EXTL3 Gene

Domains & Families for EXTL3 Gene

Gene Families for EXTL3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for EXTL3 Gene

Suggested Antigen Peptide Sequences for EXTL3 Gene

GenScript: Design optimal peptide antigens:

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 EXTL3: view

Function for EXTL3 Gene

Molecular function for EXTL3 Gene

GENATLAS Biochemistry:
EXT-like 3,ubiquitously expressed (see TSG8D)
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine + [protein]-3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine = UDP + [protein]-3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine.
UniProtKB/Swiss-Prot Function:
Probable glycosyltransferase (By similarity). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation.

Enzyme Numbers (IUBMB) for EXTL3 Gene

Phenotypes From GWAS Catalog for EXTL3 Gene

Gene Ontology (GO) - Molecular Function for EXTL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001888 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA --
GO:0004872 receptor activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IDA,IEA 28132690
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EXTL3: view
genes like me logo Genes that share phenotypes with EXTL3: view

Animal Models for EXTL3 Gene

MGI Knock Outs for EXTL3:

Animal Model Products

CRISPR Products

miRNA for EXTL3 Gene

miRTarBase miRNAs that target EXTL3

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EXTL3 Gene

Localization for EXTL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXTL3 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

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 EXTL3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EXTL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 10639137
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IDA 28132690
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EXTL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EXTL3 Gene

Pathways & Interactions for EXTL3 Gene

genes like me logo Genes that share pathways with EXTL3: view

UniProtKB/Swiss-Prot O43909-EXTL3_HUMAN

  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.

Gene Ontology (GO) - Biological Process for EXTL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015012 heparan sulfate proteoglycan biosynthetic process IEA --
GO:0030307 positive regulation of cell growth IEA --
GO:0036498 IRE1-mediated unfolded protein response TAS --
genes like me logo Genes that share ontologies with EXTL3: view

No data available for SIGNOR curated interactions for EXTL3 Gene

Drugs & Compounds for EXTL3 Gene

(1) Drugs for EXTL3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(4) Additional Compounds for EXTL3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
genes like me logo Genes that share compounds with EXTL3: view

Transcripts for EXTL3 Gene

Unigene Clusters for EXTL3 Gene

Exostosin-like glycosyltransferase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EXTL3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - - -
SP2: -
SP3: - - -
SP4: - - - - - - - - - - -
SP5: -
SP6: -

Relevant External Links for EXTL3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EXTL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EXTL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EXTL3 Gene

This gene is overexpressed in Cervix (57.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EXTL3 Gene

Protein tissue co-expression partners for EXTL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of EXTL3 Gene:


SOURCE GeneReport for Unigene cluster for EXTL3 Gene:


mRNA Expression by UniProt/SwissProt for EXTL3 Gene:

Tissue specificity: Ubiquitous. Expressed in keratinocytes.

Evidence on tissue expression from TISSUES for EXTL3 Gene

  • Nervous system(4.9)
  • Blood(2.4)
  • Skin(2.4)
  • Eye(2.3)
genes like me logo Genes that share expression patterns with EXTL3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXTL3 Gene

Orthologs for EXTL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for EXTL3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EXTL3 33 34
  • 99.56 (n)
(Monodelphis domestica)
Mammalia EXTL3 34
  • 93 (a)
(Canis familiaris)
Mammalia EXTL3 33 34
  • 90.06 (n)
(Rattus norvegicus)
Mammalia Extl3 33
  • 88.61 (n)
(Mus musculus)
Mammalia Extl3 33 16 34
  • 88.54 (n)
(Bos Taurus)
Mammalia EXTL3 33 34
  • 88.39 (n)
(Gallus gallus)
Aves EXTL3 33 34
  • 79.22 (n)
(Anolis carolinensis)
Reptilia EXTL3 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia extl3 33
  • 76.1 (n)
(Danio rerio)
Actinopterygii extl3 34 33
  • 72.12 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001688 33
  • 56.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta botv 35 33 34
  • 55.96 (n)
(Caenorhabditis elegans)
Secernentea rib-2 35 34
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11023 33
Species where no ortholog for EXTL3 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 EXTL3 Gene

Gene Tree for EXTL3 (if available)
Gene Tree for EXTL3 (if available)

Paralogs for EXTL3 Gene

Paralogs for EXTL3 Gene

(3) SIMAP similar genes for EXTL3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with EXTL3: view

Variants for EXTL3 Gene

Sequence variations from dbSNP and Humsavar for EXTL3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000040091 -- 28,718,760(+) TATTC(A/G)TAGAA intron-variant
rs1000140535 -- 28,740,253(+) TACCT(G/T)CCTGT intron-variant
rs1000195606 -- 28,701,765(+) GGGAG(A/G)GACCG intron-variant, upstream-variant-2KB
rs1000230923 -- 28,743,339(+) ACTAC(C/T)TACCT intron-variant
rs1000242254 -- 28,743,674(+) AGATG(A/C/T)TGTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EXTL3 Gene

Variant ID Type Subtype PubMed ID
nsv1119176 CNV deletion 24896259
esv1008413 CNV deletion 20482838

Variation tolerance for EXTL3 Gene

Residual Variation Intolerance Score: 1.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EXTL3 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXTL3 Gene

Disorders for EXTL3 Gene

MalaCards: The human disease database

(26) MalaCards diseases for EXTL3 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunoskeletal dysplasia with neurodevelopmental abnormalities
  • isdna
hereditary multiple exostoses
  • hereditary multiple exostoses 1
latent syphilis
  • syphilis, latent
tertiary syphilis
  • late syphilis
primary syphilis
  • early symptomatic syphilis
- elite association - COSMIC cancer census association via MalaCards
Search EXTL3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EXTL3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EXTL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXTL3 Gene

Publications for EXTL3 Gene

  1. Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. (PMID: 9479495) Van Hul W … Willems PJ (Genomics 1998) 2 3 4 22 60
  2. Overexpression of EXTL3/EXTR1 enhances NF-kappaB activity induced by TNF-alpha. (PMID: 11257457) Mizuno K … Sato TA (Cellular signalling 2001) 2 3 22 60
  3. Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. (PMID: 9473480) Saito T … Hori T (Biochemical and biophysical research communications 1998) 3 4 22 60
  4. The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury. (PMID: 22727489) Lai Y … Gallo RL (Immunity 2012) 3 4 60
  5. Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation. (PMID: 17761672) Busse M … Kusche-Gullberg M (The Journal of biological chemistry 2007) 3 22 60

Products for EXTL3 Gene

Sources for EXTL3 Gene

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