EXTL3 (exostosin like glycosyltransferase 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2137
Gene name Exostosin like glycosyltransferase 3
Gene symbol EXTL3
Synonyms (NCBI Gene)
BOTVEXTL1LEXTR1ISDNAREGRRPR
Chromosome 8
Chromosome location 8p21.1
Summary 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.
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs554294508 C>T Pathogenic Intron variant, coding sequence variant, missense variant
rs747676107 C>A,T Pathogenic Missense variant, coding sequence variant, intron variant, synonymous variant
rs749621890 C>G,T Likely-pathogenic Missense variant, coding sequence variant, intron variant
rs770842408 A>G Pathogenic Missense variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1111
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1111)
miRTarBase ID miRNA Experiments Reference
MIRT018750 hsa-miR-335-5p Microarray 18185580
MIRT048650 hsa-miR-99a-5p CLASH 23622248
MIRT047509 hsa-miR-10a-5p CLASH 23622248
MIRT047402 hsa-miR-10b-5p CLASH 23622248
MIRT046048 hsa-miR-125b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (45)
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 35676258
GO:0001888 Function Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA 11390981, 35676258
GO:0001888 Function Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605744 3518 ENSG00000012232
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43909
Protein name Exostosin-like 3 (EC 2.4.1.223) (EXT-related protein 1) (Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Hereditary multiple exostoses gene isolog) (Multiple exostosis-like protein 3) (Putative tumor suppressor protein EXTL3)
Protein function Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS) (PubMed:28132690, PubMed:28148688). Initiates HS synthesis by transferring the first N-acetyl-alpha-D-glucosamine (alpha-GlcNAc) residue (GlcNAcT-I activity) to the tet
PDB 7AU2 , 7AUA , 8OG1 , 8OG4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03016 Exostosin 190 → 500 Exostosin family Family
PF09258 Glyco_transf_64 663 → 904 Glycosyl transferase family 64 domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed in keratinocytes. Expressed in pancreas (PubMed:34099862). {ECO:0000269|PubMed:22727489, ECO:0000269|PubMed:34099862}.
Sequence 
MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEA
GKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKS
IENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLH
NCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVI
LVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQ
STFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEA
RSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGERED
RLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNE
AALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQI
PAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDF
YRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPR
EQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRT
EKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDI
PHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLV
SHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVD
SVLFKTRLPHDKTKCFKFI
Sequence length 919
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways 		  XBP1(S) activates chaperone genes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunoskeletal dysplasia with neurodevelopmental abnormalities Pathogenic; Likely pathogenic rs554294508, rs749621890, rs1369665958 RCV000477674
RCV000761559
RCV001291787
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EXTL3-related disorder Likely benign; Benign rs112724129, rs146639822, rs775682299, rs760155236, rs141531460, rs538331636, rs36092162, rs371302609, rs148404093, rs765685283 RCV003956110
RCV003908808
RCV003923440
RCV003913676
RCV003913685
RCV003931633
RCV003926259
RCV003895428
RCV003895504
RCV003942903
Hepatocellular carcinoma Likely benign rs773124186 RCV005925987
Malignant tumor of urinary bladder Likely benign rs200494893 RCV005912790
Meningioma Uncertain significance rs540181609 RCV005648238
Show/Hide Text Mining Associations (20)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 28132690
Endometriosis Associate 31467315
Immune System Diseases Associate 35818069
Immunologic Deficiency Syndromes Associate 28331220
Liver Failure Associate 28331220
Mucopolysaccharidoses Associate 19690583
Mucopolysaccharidosis III Associate 19690583, 26347037
Multiple Myeloma Associate 37522196
Musculoskeletal Abnormalities Associate 28132690
Myotonia with Skeletal Abnormalities and Mental Retardation Associate 38010033