GCNT2
entrez
2651
canonical
uniprot
Q8N0V5
canonical
ensembl
ENSG00000111846
resolver
ensembl
ENSG00000285222
resolver
ensp
ENSP00000265012
resolver
ensp
ENSP00000314844
resolver
ensp
ENSP00000368917
resolver
ensp
ENSP00000419411
resolver
ensp
ENSP00000580590
resolver
genesymbol
GCNT2
resolver
genesymbol_syn
GCNT5
resolver
genesymbol_syn
IGNT
resolver
genesymbol_syn
II
resolver
genesymbol_syn
NACGT1
resolver
hgnc
HGNC:4204
resolver
uniprot
Q06430
resolver
uniprot
Q5T4J1
resolver
uniprot
Q5W0E9
resolver
uniprot
Q6T5E5
resolver
uniprot
Q8NFS9
resolver
uniprot_entry
GCNT2_HUMAN
resolver
uniprot_sec
Q06430
resolver
uniprot_sec
Q5T4J1
resolver
uniprot_sec
Q5W0E9
resolver
uniprot_sec
Q6T5E5
resolver
uniprot_sec
Q8NFS9
resolver
amino_acid_sequence
MMGSWKHCLFSASLISALIFVFVYNTELWENKRFLRAALSNASLLAEACHQIFEGKVFYPTENALKTTLDEATCYEYMVRSHYVTETLSEEEAGFPLAYTVTIHKDFGTFERLFRAIYMPQNVYCVHLDQKATDAFKGAVKQLLSCFPNAFLASKKESVVYGGISRLQADLNCLEDLVASEVPWKYVINTCGQDFPLKTNREIVQYLKGFKGKNITPGVLPPDHAVGRTKYVHQELLNHKNSYVIKTTKLKTPPPHDMVIYFGTAYVALTRDFANFVLQDQLALDLLSWSKDTYSPDEHFWVTLNRIPGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF
uniprot
proteins
disease_involvement
DISEASE: Cataract 13, with adult i phenotype (CTRCT13) [MIM:116700]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen. {ECO:0000269|PubMed:11739194, ECO:0000269|PubMed:28839118, ECO:0000269|PubMed:29914532}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.150
uniprot
proteins
function
FUNCTION: Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans (PubMed:12424189, PubMed:8449405). Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells. {ECO:0000269|PubMed:12424189, ECO:0000269|PubMed:7579796, ECO:0000269|PubMed:8449405}.; FUNCTION: [Isoform C]: Determines the expression of the blood group I antigen in erythrocytes. {ECO:0000269|PubMed:12468428}.
uniprot
proteins
mass_dalton
45873
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation.
uniprot
proteins
protein_family
Glycosyltransferase 14 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11739194
uniprot
proteins
pubmed
12424189
uniprot
proteins
pubmed
12468428
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14672974
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
28839118
uniprot
proteins
pubmed
29914532
uniprot
proteins
pubmed
7579796
uniprot
proteins
pubmed
8449405
uniprot
proteins
sequence_length
402
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..23; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins