• Gene id: 120071

Gene Summary

• Gene Symbol: LARGE2   Gene   UCSC   Ensembl
• Aliases: GYLTL1B, PP5656
• Gene name: LARGE xylosyl- and glucuronyltransferase 2
• Alternate names: LARGE xylosyl- and glucuronyltransferase 2, glycosyltransferase-like 1B, glycosyltransferase-like protein LARGE2, like-glycosyltransferase 2, ortholog of mouse glycosyltransferase-like 1B,
• Gene location: 11p11.2 (45921620: 45929095)     Exons: 17     NC_000011.10
• OMIM: 609709

Protein Summary

• Protein general information: Q8N3Y3  
  • Name: LARGE xylosyl and glucuronyltransferase 2 (EC 2.4. . ) (Glycosyltransferase like 1B) [Includes: Xylosyltransferase LARGE2 (EC 2.4.2. ); Beta 1,3 glucuronyltransferase LARGE2 (EC 2.4.1. )]
  • Length: 721  
  • Mass: 81787
  • Tissue specificity: Widely expressed. Expressed at high level in placenta, pancreas and kidney compared to LARGE. Not expressed in brain. {ECO
• Sequence:

  MLPRGRPRALGAAALLLLLLLLGFLLFGGDLGCERREPGGRAGAPGCFPGPLMPRVPPDGRLRRAAALDGDPGAG
  PGDHNRSDCGPQPPPPPKCELLHVAIVCAGHNSSRDVITLVKSMLFYRKNPLHLHLVTDAVARNILETLFHTWMV
  PAVRVSFYHADQLKPQVSWIPNKHYSGLYGLMKLVLPSALPAELARVIVLDTDVTFASDISELWALFAHFSDTQA
  IGLVENQSDWYLGNLWKNHRPWPALGRGFNTGVILLRLDRLRQAGWEQMWRLTARRELLSLPATSLADQDIFNAV
  IKEHPGLVQRLPCVWNVQLSDHTLAERCYSEASDLKVIHWNSPKKLRVKNKHVEFFRNFYLTFLEYDGNLLRREL
  FVCPSQPPPGAEQLQQALAQLDEEDPCFEFRQQQLTVHRVHVTFLPHEPPPPRPHDVTLVAQLSMDRLQMLEALC
  RHWPGPMSLALYLTDAEAQQFLHFVEASPVLAARQDVAYHVVYREGPLYPVNQLRNVALAQALTPYVFLSDIDFL
  PAYSLYDYLRASIEQLGLGSRRKAALVVPAFETLRYRFSFPHSKVELLALLDAGTLYTFRYHEWPRGHAPTDYAR
  WREAQAPYRVQWAANYEPYVVVPRDCPRYDPRFVGFGWNKVAHIVELDAQEYELLVLPEAFTIHLPHAPSLDISR
  FRSSPTYRDCLQALKDEFHQDLSRHHGAAALKYLPALQQPQSPARG

• Structural information:
  • Interpro: IPR002495  IPR029044  
  • DIP: 48923
  • STRING: ENSP00000432869
• Other Databases: GeneCards:  LARGE2  Malacards:  LARGE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015020	glucuronosyltransferase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0042285	xylosyltransferase activity	IBA	molecular function
GO:0035269	protein O-linked mannosylation	IBA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IBA	molecular function
GO:0035269	protein O-linked mannosylation	IDA	biological process
GO:0015020	glucuronosyltransferase activity	ISS	molecular function
GO:0030145	manganese ion binding	TAS	molecular function
GO:0042285	xylosyltransferase activity	ISS	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0035252	UDP-xylosyltransferase activity	TAS	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0015020	glucuronosyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0046716	muscle cell cellular homeostasis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq