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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 3
  • REG Receptor 2
  • EC 2.4.1.223 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 of proteins. Gene Ontology (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

  • Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489).

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

GeneHancer (GH) Regulatory Elements for EXTL3 Gene

Promoters and enhancers for EXTL3 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
GH08J028699 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 665.8 +101.6 101596 4.6 PKNOX1 SIN3A ZNF2 ZNF48 YY1 SLC30A9 ZNF766 ELK1 ZNF143 ATF7 EXTL3-AS1 EXTL3 INTS9 INTS9-AS1 KIF13B ENSG00000254129 PIR55838
GH08J028600 Enhancer 0.9 Ensembl ENCODE 650.7 +0.7 702 1.7 JUN ZIC2 GTF3C2 FOSL1 CTBP1 POLR2A KLF7 FOSL2 FOS ETV6 EXTL3 INTS9 ENSG00000259366 ZNF395 HMBOX1 GC08P028669
GH08J028621 Promoter/Enhancer 1.8 Ensembl ENCODE 16.8 +23.3 23324 4.4 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 CBX5 ZNF213 ZNF207 ZNF143 ENSG00000259366 EXTL3 INTS9 GC08P028669
GH08J028707 Enhancer 1.4 FANTOM5 Ensembl ENCODE 18.4 +108.4 108389 3.3 PKNOX1 FEZF1 ZNF335 ZNF366 ZSCAN5C SCRT2 EGR2 SMARCA5 ZNF362 CEBPB EXTL3 EXTL3-AS1 PIR55838
GH08J028711 Enhancer 1.2 FANTOM5 Ensembl ENCODE 17.7 +112.6 112645 3.7 HDAC1 FOXA2 BATF ZNF335 ATF7 CEBPB JUNB MEF2D NFIC SMARCA4 EXTL3 EXTL3-AS1 INTS9-AS1 INTS9 FZD3 ZNF395 PIR55838
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXTL3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EXTL3 gene promoter:
  • NRSF form 2
  • NRSF form 1
  • Lmo2
  • RSRFC4
  • Nkx6-1
  • STAT1
  • p53
  • Egr-4
  • HNF-3beta

Genomic Locations for EXTL3 Gene

Genomic Locations for EXTL3 Gene
chr8:28,600,469-28,755,599
(GRCh38/hg38)
Size:
155,131 bases
Orientation:
Plus strand
chr8:28,457,986-28,613,116
(GRCh37/hg19)
Size:
155,131 bases
Orientation:
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:
    O43909-EXTL3_HUMAN
    Recommended name:
    Exostosin-like 3
    Protein Accession:
    O43909
    Secondary Accessions:
    • D3DST8
    • O00225
    • Q53XT3

    Protein attributes for EXTL3 Gene

    Size:
    919 amino acids
    Molecular mass:
    104749 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with REG3A.
    SequenceCaution:
    • 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=790, isoforms=592, Asn290, and isoforms=277
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EXTL3 Gene

Domains & Families for EXTL3 Gene

Gene Families for EXTL3 Gene

HGNC:
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

O43909

UniProtKB/Swiss-Prot:

EXTL3_HUMAN :
  • Belongs to the glycosyltransferase 47 family.
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

UniProtKB/Swiss-Prot Function:
Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489).
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.
GENATLAS Biochemistry:
EXT-like 3,ubiquitously expressed (see TSG8D)

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: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

Human Phenotype Ontology for EXTL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EXTL3 Gene

MGI Knock Outs for EXTL3:

Animal Model Products

  • Taconic Biosciences Mouse Models for EXTL3

CRISPR Products

miRNA for EXTL3 Gene

miRTarBase miRNAs that target EXTL3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXTL3

Clone Products

No data available for 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. 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 EXTL3 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
cytosol 2
plasma membrane 2
lysosome 1
extracellular 1
mitochondrion 1
peroxisome 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 IEA,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:0006486 protein glycosylation IEA --
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: 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 EXTL3: view

Transcripts for EXTL3 Gene

Unigene Clusters for EXTL3 Gene

Exostosin-like glycosyltransferase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXTL3

Clone 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: -
SP7:

Relevant External Links for EXTL3 Gene

GeneLoc Exon Structure for
EXTL3
ECgene alternative splicing isoforms for
EXTL3

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 and MOPED for EXTL3 Gene



Protein tissue co-expression partners for EXTL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of EXTL3 Gene:

EXTL3

SOURCE GeneReport for Unigene cluster for EXTL3 Gene:

Hs.491354

mRNA Expression by UniProt/SwissProt for EXTL3 Gene:

O43909-EXTL3_HUMAN
Tissue specificity: Ubiquitous. Expressed in keratinocytes.

Evidence on tissue expression from TISSUES for EXTL3 Gene

  • Nervous system(4.9)
  • Skin(2.5)
  • Blood(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
chimpanzee
(Pan troglodytes)
Mammalia EXTL3 34 33
  • 99.56 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXTL3 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXTL3 34 33
  • 90.06 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Extl3 33
  • 88.61 (n)
mouse
(Mus musculus)
Mammalia Extl3 16 34 33
  • 88.54 (n)
cow
(Bos Taurus)
Mammalia EXTL3 34 33
  • 88.39 (n)
OneToOne
chicken
(Gallus gallus)
Aves EXTL3 34 33
  • 79.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXTL3 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia extl3 33
  • 76.1 (n)
zebrafish
(Danio rerio)
Actinopterygii extl3 34 33
  • 72.12 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001688 33
  • 56.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta botv 34 35 33
  • 55.96 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rib-2 34 35
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToOne
Cin.11023 33
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

ENSEMBL:
Gene Tree for EXTL3 (if available)
TreeFam:
Gene Tree for EXTL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXTL3: view image

Paralogs for EXTL3 Gene

Paralogs for EXTL3 Gene

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

  • EXTL3_HUMAN
  • E5RIV6_HUMAN
  • E5RK02_HUMAN
  • E7ET85_HUMAN
  • H0YB01_HUMAN
  • H0YBJ7_HUMAN
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 Variation AA Info Type
rs554294508 pathogenic, Immunoskeletal dysplasia with neurodevelopmental abnormalities, Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425] 28,717,441(+) C/T coding_sequence_variant, intron_variant, missense_variant
rs747676107 pathogenic, Immunoskeletal dysplasia with neurodevelopmental abnormalities 28,717,074(+) C/A/T coding_sequence_variant, intron_variant, missense_variant, synonymous_variant
rs770842408 pathogenic, Immunoskeletal dysplasia with neurodevelopmental abnormalities, Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425] 28,718,029(+) A/G coding_sequence_variant, intron_variant, missense_variant
VAR_079089 Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425] p.Arg339Trp
VAR_079092 Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425] p.Arg513Cys

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

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

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)

Additional Variant Information for EXTL3 Gene

Human Gene Mutation Database (HGMD)
EXTL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXTL3

SNP Genotyping and Copy Number Assay Products

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, GTR, 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
primary syphilis
  • early symptomatic syphilis
tertiary syphilis
  • late syphilis
- elite association - COSMIC cancer census association via MalaCards
Search EXTL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EXTL3_HUMAN
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425]: An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. {ECO:0000269 PubMed:28132690, ECO:0000269 PubMed:28148688}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EXTL3

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

No data available for 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 58
  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 58
  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 58
  4. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. (PMID: 28132690) Oud MM … Kuijpers TW (American journal of human genetics 2017) 3 4 58
  5. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. (PMID: 28148688) Volpi S … Notarangelo LD (The Journal of experimental medicine 2017) 3 4 58

Products for EXTL3 Gene

Sources for EXTL3 Gene

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