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polypeptide N-acetylgalactosaminyltransferase 2

Summary

Gene Symbol

GALNT2

Aliases

GalNAc-T2
polypeptide GalNAc transferase 2

Organism

Homo sapiens (human)

External Links

NCBI Gene

2590

GGDB ID

gg088

HGNC

4124

mRNA

NM_004481

map

1q41-q42

Protein

NP_004472

OMIM

602274

KEGG Gene ID

hsa:2590

PubChem

2590

Alliance of Genome Resources

HGNC:4124

Annotation

Keyword

3D-structure
Alternative splicing
Congenital disorder of glycosylation
Direct protein sequencing
Disease variant
Disulfide bond
Glycosyltransferase
Golgi apparatus
Lectin
Manganese
Metal-binding
Phosphoprotein
Proteoglycan
Reference proteome
Secreted
Signal
Signal-anchor
Transmembrane helix

Proteins

Displaying **all 3** entries
UniProt	Protein Name
A0A1L7NY50	Protein-UDP acetylgalactosaminyltransferase
B7Z6K2	Protein-UDP acetylgalactosaminyltransferase
Q10471	Polypeptide GalNAc transferase 2 Protein-UDP acetylgalactosaminyltransferase 2 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
protein O-linked glycosylation	IBA IDA	16434399 19460755
protein maturation	IDA	12438318
protein O-linked glycosylation via threonine	IDA	12438318 18562306 9295285
O-glycan processing	IDA TAS	18562306
protein O-linked glycosylation via serine	IDA	12438318 9295285

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

protein maturation

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

protein maturation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

protein maturation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

protein maturation

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GO Term	Evidence Code	PMID
extracellular region	IEA
endoplasmic reticulum membrane	TAS
membrane	HDA	19946888
Golgi apparatus	IBA IDA	12506059 9852147
Golgi cisterna membrane	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

extracellular region

membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

organelle subcompartment [inference]

Golgi apparatus subcompartment [inference]

Golgi stack

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

perinuclear region of cytoplasm

Displaying **all 4** entries
GO Term	Evidence Code	PMID
manganese ion binding	IDA	16434399 9295285
carbohydrate binding	IEA
protein binding	IPI	21699783 25416956 32296183
polypeptide N-acetylgalactosaminyltransferase activity	IBA IDA TAS	12438318 16434399 18562306 19460755 9295285

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylgalactosaminyltransferase activity [inference]

polypeptide N-acetylgalactosaminyltransferase activity

hexosyltransferase activity [inference]

acetylgalactosaminyltransferase activity [inference]

polypeptide N-acetylgalactosaminyltransferase activity

catalytic activity, acting on a protein [inference]

polypeptide N-acetylgalactosaminyltransferase activity

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

manganese ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000143641

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg088

Gene Symbol

GALNT2

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Rattus norvegicus	XP_238057	XM_238057
Drosophila melanogaster	NP_995625	NM_205903
Caenorhabditis elegans	NP_507850	NM_075449
Mus musculus	NP_644678	NM_139272

KEGG BRITE Database

Orthology

K00710

Name

polypeptide N-acetylgalactosaminyltransferase [EC:2.4.1.41]

References

9295285

Rhea

RHEA:23956

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.41

PMID

RHEA:52424

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.41

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 47 in total

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DO ID	Disease Name	Source
DOID:3571	liver cancer	DisGeNET
DOID:0050571	congenital disorder of glycosylation type II	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	DisGeNET
DOID:0050865	tongue squamous cell carcinoma	DisGeNET
DOID:0060192	Crohn's colitis	DisGeNET
DOID:0080041	hypochondroplasia	DisGeNET
DOID:0110892	inflammatory bowel disease 1	DisGeNET
DOID:0111368	cholesterol-ester transfer protein deficiency	DisGeNET
DOID:0111369	hyperalphalipoproteinemia 1	DisGeNET
DOID:10534	stomach cancer	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of 40 in total

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HPO ID	HPO Term
HP:0000405	Conductive hearing impairment
HP:0000426	Prominent nasal bridge
HP:0000483	Astigmatism
HP:0000494	Downslanted palpebral fissures
HP:0000639	Nystagmus
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0000817	Reduced eye contact
HP:0001250	Seizure
HP:0001263	Global developmental delay

Displaying 1 entry
Disease ID	Disease Name
OMIM:618885	congenital disorder of glycosylation, type iit

PubChem Disease

MedGen Diseases

Congenital disorder of glycosylation, type iit

OMIM Phenotypes

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T

KEGG Diseases

Congenital disorders of glycosylation type II

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Oryzias latipes	101167608		ORYLA12527
Oreochromis niloticus	100698430		ORENI35017
Sparus aurata	115580301		SPAAU25021
Xenopus laevis	101027298	Xenbase:XB-GENE-6486521
Xenopus laevis	108716128	Xenbase:XB-GENE-17346352
Xenopus tropicalis	100488284	Xenbase:XB-GENE-980077
Pseudonaja textilis	113439341		PSETE11039
Erinaceus europaeus	103124408		ERIEU10025
Callithrix jacchus	100394463		CALJA17291
Macaca fascicularis	102116800		MACFA19604

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements