• Gene id: 23127

Gene Summary

• Gene Symbol: COLGALT2   Gene   UCSC   Ensembl
• Aliases: C1orf17, ColGalT 2, GLT25D2
• Gene name: collagen beta(1-O)galactosyltransferase 2
• Alternate names: procollagen galactosyltransferase 2, glycosyltransferase 25 domain containing 2, glycosyltransferase 25 family member 2, hydroxylysine galactosyltransferase 2,
• Gene location: 1q25.3 (184037727: 183929661)     Exons: 13     NC_000001.11
• OMIM: 617533

Protein Summary

• Protein general information: Q8IYK4  
  • 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)
  • Length: 626  
  • Mass: 72924
  • Tissue specificity: Expressed in brain and skeletal muscle. {ECO
• Sequence:

  MAARPAATLAWSLLLLSSALLREGCRARFVAERDSEDDGEEPVVFPESPLQSPTVLVAVLARNAAHTLPHFLGCL
  ERLDYPKSRMAIWAATDHNVDNTTEIFREWLKNVQRLYHYVEWRPMDEPESYPDEIGPKHWPTSRFAHVMKLRQA
  ALRTAREKWSDYILFIDVDNFLTNPQTLNLLIAENKTIVAPMLESRGLYSNFWCGITPKGFYKRTPDYVQIREWK
  RTGCFPVPMVHSTFLIDLRKEASDKLTFYPPHQDYTWTFDDIIVFAFSSRQAGIQMYLCNREHYGYLPIPLKPHQ
  TLQEDIENLIHVQIEAMIDRPPMEPSQYVSVVPKYPDKMGFDEIFMINLKRRKDRRDRMLRTLYEQEIEVKIVEA
  VDGKALNTSQLKALNIEMLPGYRDPYSSRPLTRGEIGCFLSHYSVWKEVIDRELEKTLVIEDDVRFEHQFKKKLM
  KLMDNIDQAQLDWELIYIGRKRMQVKEPEKAVPNVANLVEADYSYWTLGYVISLEGAQKLVGANPFGKMLPVDEF
  LPVMYNKHPVAEYKEYYESRDLKAFSAEPLLIYPTHYTGQPGYLSDTETSTIWDNETVATDWDRTHAWKSRKQSR
  IYSNAKNTEALPPPTSLDTVPSRDEL

• Structural information:
  • Interpro: IPR002654  IPR029044  
  • Prosite: PS00014
  • CDD: cd06532
  • STRING: ENSP00000354960
• Other Databases: GeneCards:  COLGALT2  Malacards:  COLGALT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050211	procollagen galactosyltransferase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0050211	procollagen galactosyltransferase activity	IEA	molecular function
GO:0050211	procollagen galactosyltransferase activity	TAS	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation
hsa00514	Other types of O-glycan biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray