• Gene id: 2590

Gene Summary

• Gene Symbol: GALNT2   Gene   UCSC   Ensembl
• Aliases: CDG2T, GalNAc-T2
• Gene name: polypeptide N-acetylgalactosaminyltransferase 2
• Alternate names: polypeptide N-acetylgalactosaminyltransferase 2, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2), polypeptide GalNAc transferase 2, pp-GaNTase 2,
• Gene location: 1q42.13 (230057788: 230282121)     Exons: 20     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hi
• OMIM: 602274

Protein Summary

• Protein general information: Q10471  
  • Name: Polypeptide N acetylgalactosaminyltransferase 2 (EC 2.4.1.41) (Polypeptide GalNAc transferase 2) (GalNAc T2) (pp GaNTase 2) (Protein UDP acetylgalactosaminyltransferase 2) (UDP GalNAc:polypeptide N acetylgalactosaminyltransferase 2) [Cleaved into: Polypep
  • Length: 571  
  • Mass: 64733
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MRRRSRMLLCFAFLWVLGIAYYMYSGGGSALAGGAGGGAGRKEDWNEIDPIKKKDLHHSNGEEKAQSMETLPPGK
  VRWPDFNQEAYVGGTMVRSGQDPYARNKFNQVESDKLRMDRAIPDTRHDQCQRKQWRVDLPATSVVITFHNEARS
  ALLRTVVSVLKKSPPHLIKEIILVDDYSNDPEDGALLGKIEKVRVLRNDRREGLMRSRVRGADAAQAKVLTFLDS
  HCECNEHWLEPLLERVAEDRTRVVSPIIDVINMDNFQYVGASADLKGGFDWNLVFKWDYMTPEQRRSRQGNPVAP
  IKTPMIAGGLFVMDKFYFEELGKYDMMMDVWGGENLEISFRVWQCGGSLEIIPCSRVGHVFRKQHPYTFPGGSGT
  VFARNTRRAAEVWMDEYKNFYYAAVPSARNVPYGNIQSRLELRKKLSCKPFKWYLENVYPELRVPDHQDIAFGAL
  QQGTNCLDTLGHFADGVVGVYECHNAGGNQEWALTKEKSVKHMDLCLTVVDRAPGSLIKLQGCRENDSRQKWEQI
  EGNSKLRHVGSNLCLDSRTAKSGGLSVEVCGPALSQQWKFTLNLQQ

• Structural information:
  • Protein Domains: (443..56-)
    lectin (/note="Ricin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00174"-)
  • Interpro: IPR001173  IPR029044  IPR035992  IPR000772  
  • Prosite: PS50231
  • CDD: cd00161
  • PDB: 2FFU 2FFV 4D0T 4D0Z 4D11 5AJN 5AJO 5AJP 5FV9 5NDF 6EGS
  • PDBsum: 2FFU 2FFV 4D0T 4D0Z 4D11 5AJN 5AJO 5AJP 5FV9 5NDF 6EGS
  • STRING: ENSP00000355632
• Other Databases: GeneCards:  GALNT2  Malacards:  GALNT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0030145	manganese ion binding	IDA	molecular function
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0002378	immunoglobulin biosynthetic process	IDA	biological process
GO:0018242	protein O-linked glycosylation via serine	IDA	biological process
GO:0018242	protein O-linked glycosylation via serine	IDA	biological process
GO:0018243	protein O-linked glycosylation via threonine	IDA	biological process
GO:0018243	protein O-linked glycosylation via threonine	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	colocalizes with
GO:0005795	Golgi stack	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0030173	integral component of Golgi membrane	NAS	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0018243	protein O-linked glycosylation via threonine	IDA	biological process
GO:0016266	O-glycan processing	IDA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00514	Other types of O-glycan biosynthesis
hsa00512	Mucin 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