EXTL3 (exostosin like glycosyltransferase 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2137
Gene name Gene Name - the full gene name approved by the HGNC.
Exostosin like glycosyltransferase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EXTL3
Synonyms (NCBI Gene) Gene synonyms aliases
BOTV, EXTL1L, EXTR1, ISDNA, REGR, RPR
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p21.1
Summary Summary of gene provided in NCBI Entrez 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.
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605744 3518 ENSG00000012232
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES immunoskeletal dysplasia with neurodevelopmental abnormalities rs554294508, rs749621890 N/A
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease 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