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

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23127
Gene name Collagen beta(1-O)galactosyltransferase 2
Gene symbol COLGALT2
Synonyms (NCBI Gene)
C1orf17ColGalT 2GLT25D2
Chromosome 1
Chromosome location 1q25.3
miRNA miRNA information provided by mirtarbase database.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617533 16790 ENSG00000198756
Protein Protein information from UniProt database.
Gene 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.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GILLES DE LA TOURETTE SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 29274321
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung Neoplasms BEFREE 28722770
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Osteoarthritis Pubtator 31173883, 33760386, 37208701 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip Osteoarthritis Of Hip GWASCAT_DG 30664745
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma BEFREE 27402836
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma Pubtator 27402836 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only