COLGALT2 (collagen beta(1-O)galactosyltransferase 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23127
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen beta(1-O)galactosyltransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COLGALT2
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf17, ColGalT 2, GLT25D2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.3
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT017650 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 28514442, 32296183, 33961781
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005788 Component Endoplasmic reticulum lumen IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
GO:0016740 Function Transferase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617533 16790 ENSG00000198756
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8IYK4
Protein name Procollagen galactosyltransferase 2 (EC 2.4.1.50) (Collagen beta(1-O)galactosyltransferase 2) (ColGalT 2) (Glycosyltransferase 25 family member 2) (Hydroxylysine galactosyltransferase 2)
Protein function Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13704 Glyco_tranf_2_4 62 → 182 Family
PF01755 Glyco_transf_25 341 → 526 Glycosyltransferase family 25 (LPS biosynthesis protein) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and skeletal muscle. {ECO:0000269|PubMed:19075007}.
Sequence 
MAARPAATLAWSLLLLSSALLREGCRARFVAERDSEDDGEEPVVFPESPLQSPTVLVAVL
ARNAAHTLPHFLGCLERLDYPKSRMAIWAATDHNVDNTTEIFREWLKNVQRLYHYVEWRP
MDEPESYPDEIGPKHWPTSRFAHVMKLRQAALRTAREKWSDYILFIDVDNFLTNPQTLNL
LIAENKTIVAPMLESRGLYSNFWCGITPKGFYKRTPDYVQIREWKRTGCFPVPMVHSTFL
IDLRKEASDKLTFYPPHQDYTWTFDDIIVFAFSSRQAGIQMYLCNREHYGYLPIPLKPHQ
TLQEDIENLIHVQIEAMIDRPPMEPSQYVSVVPKYPDKMGFDEIFMINLKRRKDRRDRML
RTLYEQEIEVKIVEAVDGKALNTSQLKALNIEMLPGYRDPYSSRPLTRGEIGCFLSHYSV
WKEVIDRELEKTLVIEDDVRFEHQFKKKLMKLMDNIDQAQLDWELIYIGRKRMQVKEPEK
AVPNVANLVEADYSYWTLGYVISLEGAQKLVGANPFGKMLPVDEFLPVMYNKHPVAEYKE
YYESRDLKAFSAEPLLIYPTHYTGQPGYLSDTETSTIWDNETVATDWDRTHAWKSRKQSR
IYSNAKNTEALPPPTSLDTVPSRDEL
Sequence length 626
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Lysine degradation
Other types of O-glycan biosynthesis
Metabolic pathways 		  Collagen biosynthesis and modifying enzymes
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Osteoarthritis Of Hip Osteoarthritis (hip) N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Osteoarthritis Associate 31173883, 33760386, 37208701
Osteosarcoma Associate 27402836
Rectal Prolapse Associate 35409030