• Gene id: 10610

Gene Summary

• Gene Symbol: ST6GALNAC2   Gene   UCSC   Ensembl
• Aliases: SAITL1, SIAT7, SIAT7B, SIATL1, ST6GalNAII, STHM
• Gene name: ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
• Alternate names: alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2, (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B, (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase, SIAT7-B, ST6 (,
• Gene location: 17q25.1 (76586127: 76565376)     Exons: 7     NC_000017.11
• Gene summary(Entrez): ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein target
• OMIM: 610137

Protein Summary

• Protein general information: Q9UJ37  
  • Name: Alpha N acetylgalactosaminide alpha 2,6 sialyltransferase 2 (EC 2.4.99.3) (GalNAc alpha 2,6 sialyltransferase II) (ST6GalNAc II) (ST6GalNAcII) (SThM) (Sialyltransferase 7B) (SIAT7 B)
  • Length: 374  
  • Mass: 41939
  • Tissue specificity: Expressed in skeletal muscle, heart, kidney, placenta, lung and leukocytes. {ECO
• Sequence:

  MGLPRGSFFWLLLLLTAACSGLLFALYFSAVQRYPGPAAGARDTTSFEAFFQSKASNSWTGKGQACRHLLHLAIQ
  RHPHFRGLFNLSIPVLLWGDLFTPALWDRLSQHKAPYGWRGLSHQVIASTLSLLNGSESAKLFAPPRDTPPKCIR
  CAVVGNGGILNGSRQGPNIDAHDYVFRLNGAVIKGFERDVGTKTSFYGFTVNTMKNSLVSYWNLGFTSVPQGQDL
  QYIFIPSDIRDYVMLRSAILGVPVPEGLDKGDRPHAYFGPEASASKFKLLHPDFISYLTERFLKSKLINTHFGDL
  YMPSTGALMLLTALHTCDQVSAYGFITSNYWKFSDHYFERKMKPLIFYANHDLSLEAALWRDLHKAGILQLYQR

• Structural information:
  • Interpro: IPR001675  IPR038578  IPR012163  
  • PDB: 6APJ 6APL
  • PDBsum: 6APJ 6APL
  • STRING: ENSP00000225276
• Other Databases: GeneCards:  ST6GALNAC2  Malacards:  ST6GALNAC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006486	protein glycosylation	IDA	biological process
GO:1990743	protein sialylation	IDA	biological process
GO:0001665	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	IDA	molecular function
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0001665	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	IDA	molecular function
GO:0006486	protein glycosylation	IEA	biological process
GO:0008373	sialyltransferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0001665	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	IEA	molecular function
GO:0008373	sialyltransferase activity	TAS	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R