Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55757
Gene name	UDP-glucose glycoprotein glucosyltransferase 2
Gene symbol	UGGT2
Synonyms (NCBI Gene)	HUGT2UGCGL2UGT2
Chromosome	13
Chromosome location	13q32.1
Summary	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023666	hsa-miR-1-3p	Proteomics	18668040
MIRT439346	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439346	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1473267	hsa-miR-3074-5p	CLIP-seq
MIRT1473268	hsa-miR-3160-5p	CLIP-seq
MIRT1473269	hsa-miR-4421	CLIP-seq
MIRT1473270	hsa-miR-4736	CLIP-seq
MIRT1473271	hsa-miR-657	CLIP-seq
MIRT2142592	hsa-miR-1909	CLIP-seq
MIRT2142593	hsa-miR-214	CLIP-seq
MIRT2142594	hsa-miR-3619-5p	CLIP-seq
MIRT2142595	hsa-miR-4283	CLIP-seq
MIRT2142596	hsa-miR-499a-5p	CLIP-seq
MIRT2142597	hsa-miR-617	CLIP-seq
MIRT2142598	hsa-miR-761	CLIP-seq
MIRT2142592	hsa-miR-1909	CLIP-seq
MIRT2142593	hsa-miR-214	CLIP-seq
MIRT2142594	hsa-miR-3619-5p	CLIP-seq
MIRT2142595	hsa-miR-4283	CLIP-seq
MIRT2363080	hsa-miR-4291	CLIP-seq
MIRT2142597	hsa-miR-617	CLIP-seq
MIRT2142598	hsa-miR-761	CLIP-seq
MIRT2363081	hsa-miR-922	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003980	Function	UDP-glucose:glycoprotein glucosyltransferase activity	IBA
GO:0003980	Function	UDP-glucose:glycoprotein glucosyltransferase activity	IEA
GO:0003980	Function	UDP-glucose:glycoprotein glucosyltransferase activity	ISS
GO:0003980	Function	UDP-glucose:glycoprotein glucosyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	23349634, 25416956, 33961781, 36217029
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IBA
GO:0032991	Component	Protein-containing complex	IDA	23349634
GO:0044322	Component	Endoplasmic reticulum quality control compartment	IEA
GO:0051082	Function	Unfolded protein binding	IBA
GO:0097359	Process	UDP-glucosylation	IEA
GO:1904380	Process	Endoplasmic reticulum mannose trimming	IEA
GO:1904380	Process	Endoplasmic reticulum mannose trimming	TAS

MIM	HGNC	e!Ensembl
605898	15664	ENSG00000102595

Q9NYU1

Protein name

UDP-glucose:glycoprotein glucosyltransferase 2 (UGT2) (hUGT2) (EC 2.4.1.-) (UDP--Glc:glycoprotein glucosyltransferase 2) (UDP-glucose ceramide glucosyltransferase-like 1)

Protein function

Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18400	Thioredoxin_12	45 → 226	Thioredoxin-like domain	Domain
PF18401	Thioredoxin_13	296 → 433	Thioredoxin-like domain	Domain
PF18402	Thioredoxin_14	437 → 686	Thioredoxin-like domain	Domain
PF18403	Thioredoxin_15	710 → 933	Thioredoxin-like domain	Domain
PF06427	UDP-g_GGTase	1093 → 1200	UDP-glucose:Glycoprotein Glucosyltransferase	Domain
PF18404	Glyco_transf_24	1231 → 1498	Glucosyltransferase 24	Domain

Tissue specificity

TISSUE SPECIFICITY: Higher levels in kidney, pancreas, heart, and skeletal muscle. {ECO:0000269|PubMed:10694380}.

Sequence

MAPAKATNVVRLLLGSTALWLSQLGSGTVAASKSVTAHLAAKWPETPLLLEASEFMAEES
NEKFWQFLETVQELAIYKQTESDYSYYNLILKKAGQFLDNLHINLLKFAFSIRAYSPAIQ
MFQQIAADEPPPDGCNAFVVIHKKHTCKINEIKKLLKKAASRTRPYLFKGDHKFPTNKEN
LPVVILYAEMGTRTFSAFHKVLSEKAQNEEILYVLRHYIQKPSSRKMYLSGYGVELAIKS
TEYKALDDTQVKTVTNTTVEDETETNEVQGFLFGKLKEIYSDLRDNLTAFQKYLIESNKQ
MMPLKVWELQDLSFQAASQIMSAPVYDSIKLMKDISQNFPIKARSLTRIAVNQHMREEIK
ENQKDLQVRFKIQPGDARLFINGLRVDMDVYDAFSILDMLKLEGKMMNGLRNLGINGEDM
SKFLKLNSHIWEYTYVLDIRHSSIMWINDLENDDLYITWPTSCQKLLKPVFPGSVPSIRR
NFHNLVLFIDPAQEYTLDFIKLADVFYSHEVPLRIGFVFILNTDDEVDGANDAGVALWRA
FNYIAEEFDISEAFISIVHMYQKVKKDQNILTVDNVKSVLQNTFPHANIWDILGIHSKYD
EERKAGASFYKMTGLGPLPQALYNGEPFKHEEMNIKELKMAVLQRMMDASVYLQREVFLG
TLNDRTNAIDFLMDRNNVVPRINTLILRTNQQYLNLISTSVTADVEDFSTFFFLDSQDKS
AVIAKNMYYLTQDDESIISAVTLWIIADFDKPSGRKLLFNALKHMKTSVHSRLGIIYNPT
SKINEENTAISRGILAAFLTQKNMFLRSFLGQLAKEEIATAIYSGDKIKTFLIEGMDKNA
FEKKYNTVGVNIFRTHQLFCQDVLKLRPGEMGIVSNGRFLGPLDEDFYAEDFYLLEKITF
SNLGEKIKGIVENMGINANNMSDFIMKVDALMSSVPKRASRYDVTFLRENHSVIKTNPQE
NDMFFNVIAIVDPLTREAQKMAQLLVVLGKIINMKIKLFMNCRGRLSEAPLESFYRFVLE
PELMSGANDVSSLGPVAKFLDIPESPLLILNMITPEGWLVETVHSNCDLDNIHLKDTEKT
VTAEYELEYLLLEGQCFDKVTEQPPRGLQFTLGTKNKPAVVDTIVMAHHGYFQLKANPGA
WILRLHQGKSEDIYQIVGHEGTDSQADLEDIIVVLNSFKSKILKVKVKKETDKIKEDILT
DEDEKTKGLWDSIKSFTVSLHKENKKEKDVLNIFSVASGHLYERFLRIMMLSVLRNTKTP
VKFWLLKNYLSPTFKEVIPHMAKEYGFRYELVQYRWPRWLRQQTERQRIIWGYKILFLDV
LFPLAVDKIIFVDADQIVRHDLKELRDFDLDGAPYGYTPFCDSRREMDGYRFWKTGYWAS
HLLRRKYHISALYVVDLKKFRRIGAGDRLRSQYQALSQDPNSLSNLDQDLPNNMIYQVAI
KSLPQDWLWCETWCDDESKQRAKTIDLCNNPKTKESKLKAAARIVPEWVEYDAEIRQLLD
HLENKKQDTILTHDEL

Sequence length

1516

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		ER Quality Control Compartment (ERQC)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	29081410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30809968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17906960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	25695618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30724669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★★★★★ ★☆☆☆☆ Found in Text Mining only

UGGT2 (UDP-glucose glycoprotein glucosyltransferase 2)