• Gene id: 55757

Gene Summary

• Gene Symbol: UGGT2   Gene   UCSC   Ensembl
• Aliases: HUGT2, UGCGL2, UGT2
• Gene name: UDP-glucose glycoprotein glucosyltransferase 2
• Alternate names: UDP-glucose:glycoprotein glucosyltransferase 2, UDP-Glc:glycoprotein glucosyltransferase 2, UDP-glucose ceramide glucosyltransferase-like 1, UDP-glucose ceramide glucosyltransferase-like 2,
• Gene location: 13q32.1 (96053436: 95801579)     Exons: 46     NC_000013.11
• Gene summary(Entrez): UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 200

Protein Summary

• Protein general information: Q9NYU1  
  • Name: UDP glucose:glycoprotein glucosyltransferase 2 (UGT2) (hUGT2) (EC 2.4.1. ) (UDP Glc:glycoprotein glucosyltransferase 2) (UDP glucose ceramide glucosyltransferase like 1)
  • Length: 1516  
  • Mass: 174735
  • Tissue specificity: Higher levels in kidney, pancreas, heart, and skeletal muscle. {ECO
• Sequence:

  MAPAKATNVVRLLLGSTALWLSQLGSGTVAASKSVTAHLAAKWPETPLLLEASEFMAEESNEKFWQFLETVQELA
  IYKQTESDYSYYNLILKKAGQFLDNLHINLLKFAFSIRAYSPAIQMFQQIAADEPPPDGCNAFVVIHKKHTCKIN
  EIKKLLKKAASRTRPYLFKGDHKFPTNKENLPVVILYAEMGTRTFSAFHKVLSEKAQNEEILYVLRHYIQKPSSR
  KMYLSGYGVELAIKSTEYKALDDTQVKTVTNTTVEDETETNEVQGFLFGKLKEIYSDLRDNLTAFQKYLIESNKQ
  MMPLKVWELQDLSFQAASQIMSAPVYDSIKLMKDISQNFPIKARSLTRIAVNQHMREEIKENQKDLQVRFKIQPG
  DARLFINGLRVDMDVYDAFSILDMLKLEGKMMNGLRNLGINGEDMSKFLKLNSHIWEYTYVLDIRHSSIMWINDL
  ENDDLYITWPTSCQKLLKPVFPGSVPSIRRNFHNLVLFIDPAQEYTLDFIKLADVFYSHEVPLRIGFVFILNTDD
  EVDGANDAGVALWRAFNYIAEEFDISEAFISIVHMYQKVKKDQNILTVDNVKSVLQNTFPHANIWDILGIHSKYD
  EERKAGASFYKMTGLGPLPQALYNGEPFKHEEMNIKELKMAVLQRMMDASVYLQREVFLGTLNDRTNAIDFLMDR
  NNVVPRINTLILRTNQQYLNLISTSVTADVEDFSTFFFLDSQDKSAVIAKNMYYLTQDDESIISAVTLWIIADFD
  KPSGRKLLFNALKHMKTSVHSRLGIIYNPTSKINEENTAISRGILAAFLTQKNMFLRSFLGQLAKEEIATAIYSG
  DKIKTFLIEGMDKNAFEKKYNTVGVNIFRTHQLFCQDVLKLRPGEMGIVSNGRFLGPLDEDFYAEDFYLLEKITF
  SNLGEKIKGIVENMGINANNMSDFIMKVDALMSSVPKRASRYDVTFLRENHSVIKTNPQENDMFFNVIAIVDPLT
  REAQKMAQLLVVLGKIINMKIKLFMNCRGRLSEAPLESFYRFVLEPELMSGANDVSSLGPVAKFLDIPESPLLIL
  NMITPEGWLVETVHSNCDLDNIHLKDTEKTVTAEYELEYLLLEGQCFDKVTEQPPRGLQFTLGTKNKPAVVDTIV
  MAHHGYFQLKANPGAWILRLHQGKSEDIYQIVGHEGTDSQADLEDIIVVLNSFKSKILKVKVKKETDKIKEDILT
  DEDEKTKGLWDSIKSFTVSLHKENKKEKDVLNIFSVASGHLYERFLRIMMLSVLRNTKTPVKFWLLKNYLSPTFK
  EVIPHMAKEYGFRYELVQYRWPRWLRQQTERQRIIWGYKILFLDVLFPLAVDKIIFVDADQIVRHDLKELRDFDL
  DGAPYGYTPFCDSRREMDGYRFWKTGYWASHLLRRKYHISALYVVDLKKFRRIGAGDRLRSQYQALSQDPNSLSN
  LDQDLPNNMIYQVAIKSLPQDWLWCETWCDDESKQRAKTIDLCNNPKTKESKLKAAARIVPEWVEYDAEIRQLLD
  HLENKKQDTILTHDEL

• Structural information:
  • Interpro: IPR040497  IPR029044  IPR009448  IPR040693  IPR040694   IPR040692  IPR040525  
  • Prosite: PS00014
  • STRING: ENSP00000365938
• Other Databases: GeneCards:  UGGT2  Malacards:  UGGT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0051082	unfolded protein binding	IBA	molecular function
GO:0071712	ER-associated misfolded protein catabolic process	IBA	biological process
GO:0003980	UDP-glucose:glycoprotein glucosyltransferase activity	IBA	molecular function
GO:0018279	protein N-linked glycosylation via asparagine	IBA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0003980	UDP-glucose:glycoprotein glucosyltransferase activity	IEA	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:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:1904380	endoplasmic reticulum mannose trimming	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	IEA	cellular component
GO:0097359	UDP-glucosylation	IEA	biological process
GO:0097359	UDP-glucosylation	IEA	biological process
GO:0097359	UDP-glucosylation	IEA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0003980	UDP-glucose:glycoprotein glucosyltransferase activity	ISS	molecular function
GO:0005788	endoplasmic reticulum lumen	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq