GALNT2
entrez
2590
canonical
uniprot
Q10471
canonical
ensembl
ENSG00000143641
resolver
ensp
ENSP00000355632
resolver
genesymbol
GALNT2
resolver
genesymbol_syn
GalNAc-T2
resolver
hgnc
HGNC:4124
resolver
uniprot
A0A1L7NY50
resolver
uniprot
A8K1Y3
resolver
uniprot
B7Z6K2
resolver
uniprot
B7Z8V8
resolver
uniprot
C5HU00
resolver
uniprot
Q9NPY4
resolver
uniprot_entry
A0A1L7NY50_HUMAN
resolver
uniprot_entry
B7Z6K2_HUMAN
resolver
uniprot_entry
GALT2_HUMAN
resolver
uniprot_sec
A8K1Y3
resolver
uniprot_sec
B7Z8V8
resolver
uniprot_sec
C5HU00
resolver
uniprot_sec
Q9NPY4
resolver
amino_acid_sequence
MRRRSRMLLCFAFLWVLGIAYYMYSGGGSALAGGAGGGAGRKEDWNEIDPIKKKDLHHSNGEEKAQSMETLPPGKVRWPDFNQEAYVGGTMVRSGQDPYARNKFNQVESDKLRMDRAIPDTRHDQCQRKQWRVDLPATSVVITFHNEARSALLRTVVSVLKKSPPHLIKEIILVDDYSNDPEDGALLGKIEKVRVLRNDRREGLMRSRVRGADAAQAKVLTFLDSHCECNEHWLEPLLERVAEDRTRVVSPIIDVINMDNFQYVGASADLKGGFDWNLVFKWDYMTPEQRRSRQGNPVAPIKTPMIAGGLFVMDKFYFEELGKYDMMMDVWGGENLEISFRVWQCGGSLEIIPCSRVGHVFRKQHPYTFPGGSGTVFARNTRRAAEVWMDEYKNFYYAAVPSARNVPYGNIQSRLELRKKLSCKPFKWYLENVYPELRVPDHQDIAFGALQQGTNCLDTLGHFADGVVGVYECHNAGGNQEWALTKEKSVKHMDLCLTVVDRAPGSLIKLQGCRENDSRQKWEQIEGNSKLRHVGSNLCLDSRTAKSGGLSVEVCGPALSQQWKFTLNLQQ
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2T (CDG2T) [MIM:618885]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2T is an autosomal recessive form characterized by global developmental delay, intellectual disability with language deficit, autistic features, behavioral abnormalities, epilepsy, chronic insomnia, white matter changes on brain imaging, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. {ECO:0000269|PubMed:27508872, ECO:0000269|PubMed:32293671}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.41
uniprot
proteins
function
FUNCTION: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region. Involved in O-linked glycosylation of APOC-III, ANGPTL3 and PLTP. It participates in the regulation of HDL-C metabolism (PubMed:27508872, PubMed:32293671). {ECO:0000269|PubMed:12438318, ECO:0000269|PubMed:16207894, ECO:0000269|PubMed:16434399, ECO:0000269|PubMed:25939779, ECO:0000269|PubMed:27508872, ECO:0000269|PubMed:32293671, ECO:0000269|PubMed:7592619, ECO:0000269|PubMed:9295285}.
uniprot
proteins
mass_dalton
64733
uniprot
proteins
mutagenesis
MUTAGEN 282; /note="W->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:25939779"; MUTAGEN 361; /note="F->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:25939779
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:16434399, ECO:0000269|PubMed:25939779, ECO:0000269|PubMed:7592619}.
uniprot
proteins
protein_family
GalNAc-T subfamily
uniprot
proteins
protein_family
Glycosyltransferase 2 family
uniprot
proteins
pubmed
12438318
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16207894
uniprot
proteins
pubmed
16434399
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24954443
uniprot
proteins
pubmed
25939779
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27508872
uniprot
proteins
pubmed
32293671
uniprot
proteins
pubmed
37453717
uniprot
proteins
pubmed
7592619
uniprot
proteins
pubmed
9295285
uniprot
proteins
pubmed
9394011
uniprot
proteins
sequence_length
571
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:9394011}; Single-pass type II membrane protein {ECO:0000269|PubMed:9394011}. Secreted {ECO:0000269|PubMed:37453717, ECO:0000269|PubMed:9394011}. Note=Resides preferentially in the trans and medial parts of the Golgi stack. A secreted form also exists.
uniprot
proteins
transmembrane_region
TRANSMEM 7..24; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins