GenTIGS

Polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2) Associated conditions: 1. Congenital disorder of glycosylation

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001291866.2	NP_001278795.1	NC_000001.11	(230057788..230282121)	Reference GRCh38.p14 Primary Assembly	Q10471
2	REVIEWED	NM_004481.5	NP_004472.1	NC_000001.11	(230057788..230282121)	Reference GRCh38.p14 Primary Assembly	Q10471
3	REVIEWED	NR_120373.2	-	NC_000001.11	(230057788..230282121)	Reference GRCh38.p14 Primary Assembly	Q10471

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1128 reference articles

Variant Information Polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	NAS	located_in	Golgi membrane	Component	9852147
2	Homo sapiens	TAS	located_in	Golgi membrane	Component	-
3	Homo sapiens	IBA	enables	polypeptide N-acetylgalactosaminyltransferase activity	Function	21873635
4	Homo sapiens	IDA	enables	polypeptide N-acetylgalactosaminyltransferase activity	Function	9295285 12438318 16434399 18562306 19460755
5	Homo sapiens	TAS	enables	polypeptide N-acetylgalactosaminyltransferase activity	Function	-
6	Homo sapiens	IPI	enables	protein binding	Function	21699783 25416956 32296183
7	Homo sapiens	IEA	located_in	extracellular region	Component	-
8	Homo sapiens	TAS	located_in	endoplasmic reticulum membrane	Component	-
9	Homo sapiens	IBA	is_active_in	Golgi apparatus	Component	21873635
10	Homo sapiens	IDA	colocalizes_with	Golgi apparatus	Component	12506059
11	Homo sapiens	IDA	located_in	Golgi apparatus	Component	9852147
12	Homo sapiens	IDA	located_in	Golgi stack	Component	9852147
13	Homo sapiens	IBA	involved_in	protein O-linked glycosylation	Process	21873635
14	Homo sapiens	IDA	involved_in	protein O-linked glycosylation	Process	16434399 19460755
15	Homo sapiens	HDA	located_in	membrane	Component	19946888
16	Homo sapiens	IDA	involved_in	O-glycan processing	Process	18562306
17	Homo sapiens	TAS	involved_in	O-glycan processing	Process	-
18	Homo sapiens	IDA	involved_in	protein O-linked glycosylation via serine	Process	9295285 12438318
19	Homo sapiens	IDA	involved_in	protein O-linked glycosylation via threonine	Process	9295285 12438318 18562306
20	Homo sapiens	IDA	enables	manganese ion binding	Function	9295285 16434399
21	Homo sapiens	IEA	enables	carbohydrate binding	Function	-
22	Homo sapiens	IEA	located_in	Golgi cisterna membrane	Component	-
23	Homo sapiens	IDA	located_in	perinuclear region of cytoplasm	Component	12506059
24	Homo sapiens	IDA	involved_in	protein maturation	Process	12438318