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Aliases for GCNT2 Gene

Aliases for GCNT2 Gene

  • Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme (I Blood Group) 2 3 5
  • Ii Blood Group 2 3
  • NACGT1 3 4
  • GCNT5 3 4
  • IGNT 3 4
  • II 3 4
  • Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme (Ii Blood Group) 2
  • N-Acetyllactosaminide Beta-1,6-N-Acetylglucosaminyl-Transferase 3
  • Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme 2
  • I Beta-1,6-N-Acetylglucosaminyltransferase 3
  • Beta-1,6-N-Acetylglucosaminyltransferase 2 3
  • Glucosaminyl (N-Acetyl) Transferase 5 2
  • N-Acetylglucosaminyltransferase 4
  • Unassigned Linkage Group 3 2
  • Cataract, Congenital 2
  • I-Branching Enzyme 4
  • EC 2.4.1.150 4
  • BA360O19.2 3
  • BA421M1.1 3
  • CTRCT13 3
  • GCNT2C 3
  • NAGCT1 3
  • ULG3 3
  • CCAT 3

External Ids for GCNT2 Gene

Previous HGNC Symbols for GCNT2 Gene

  • NACGT1
  • II
  • GCNT5
  • CCAT

Previous GeneCards Identifiers for GCNT2 Gene

  • GC06P010613
  • GC06M010613
  • GC06P010636
  • GC06P010600
  • GC06P010397

Summaries for GCNT2 Gene

Entrez Gene Summary for GCNT2 Gene

  • This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for GCNT2 Gene

GCNT2 (Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme (I Blood Group)) is a Protein Coding gene. Diseases associated with GCNT2 include Cataract 13 With Adult I Phenotype and Blood Group, I System. Among its related pathways are terminal O-glycans residues modification and Metabolism. Gene Ontology (GO) annotations related to this gene include acetylglucosaminyltransferase activity and N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity. An important paralog of this gene is GCNT7.

UniProtKB/Swiss-Prot for GCNT2 Gene

  • Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells.

  • Isoform C: Determines the expression of the blood group I antigen in erythrocytes.

Gene Wiki entry for GCNT2 Gene

Additional gene information for GCNT2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCNT2 Gene

Genomics for GCNT2 Gene

GeneHancer (GH) Regulatory Elements for GCNT2 Gene

Promoters and enhancers for GCNT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I010517 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 573.7 +29.1 29065 7.1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 POLR2B ZNF766 GCNT2 LOC101928146 PAK1IP1 C6orf52 TMEM14B RNA5SP203 SYCP2L GC06M010576
GH06I010527 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 574.4 +40.1 40075 9.7 FOXA2 MLX ARID4B SIN3A DMAP1 IRF4 YY1 ATF7 RUNX3 RXRA GCNT2 PAK1IP1 C6orf52 LOC101928146 GC06M010576
GH06I010554 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 568.3 +64.5 64471 4.5 MEIS2 MXI1 PKNOX1 JUN MAX ZNF76 SIN3A YY1 ETS1 ZNF335 GCNT2 GCNT2P C6orf52 PAK1IP1 SYCP2L ENSG00000235051 GCM2 GC06M010576 LOC101928146
GH06I010582 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 550.2 +92.5 92543 4.2 HDAC1 PKNOX1 FOXA2 ZSCAN4 SIN3A FEZF1 ATF7 HMG20B NCOA1 TSHZ1 GCNT2 RPL21P63 PIR63050
GH06I010425 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 10.3 -63.3 -63296 7 PKNOX1 ATF1 ZFP64 YY1 ZNF766 ARID2 ZNF143 ATF7 DEK REST GCNT2 TMEM14C GCM2 SYCP2L ENSG00000235051 ENSG00000228478 MIR5689HG LINC00518
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GCNT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GCNT2 gene promoter:

Genomic Locations for GCNT2 Gene

Genomic Locations for GCNT2 Gene
chr6:10,492,223-10,629,368
(GRCh38/hg38)
Size:
137,146 bases
Orientation:
Plus strand
chr6:10,492,456-10,629,601
(GRCh37/hg19)

Genomic View for GCNT2 Gene

Genes around GCNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCNT2 Gene

Proteins for GCNT2 Gene

  • Protein details for GCNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N0V5-GNT2A_HUMAN
    Recommended name:
    N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase
    Protein Accession:
    Q8N0V5
    Secondary Accessions:
    • Q06430
    • Q5T4J1
    • Q5W0E9
    • Q6T5E5
    • Q8NFS9

    Protein attributes for GCNT2 Gene

    Size:
    402 amino acids
    Molecular mass:
    45873 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GCNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCNT2 Gene

Post-translational modifications for GCNT2 Gene

  • Glycosylation at isoforms=41
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GCNT2 Gene

Domains & Families for GCNT2 Gene

Gene Families for GCNT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GCNT2 Gene

Suggested Antigen Peptide Sequences for GCNT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N0V5

UniProtKB/Swiss-Prot:

GNT2A_HUMAN :
  • Belongs to the glycosyltransferase 14 family.
Family:
  • Belongs to the glycosyltransferase 14 family.
genes like me logo Genes that share domains with GCNT2: view

Function for GCNT2 Gene

Molecular function for GCNT2 Gene

GENATLAS Biochemistry:
beta-1,6-N-acetyl-glucosaminyl transferase
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine + beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-GlcNAc-R = UDP + beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-(beta-D-GlcNAc-(1->6))-beta-D-Gal-(1->4)-beta-D-GlcNAc-R.
UniProtKB/Swiss-Prot Function:
Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells.
UniProtKB/Swiss-Prot Function:
Isoform C: Determines the expression of the blood group I antigen in erythrocytes.

Enzyme Numbers (IUBMB) for GCNT2 Gene

Phenotypes From GWAS Catalog for GCNT2 Gene

Gene Ontology (GO) - Molecular Function for GCNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008109 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity TAS,IMP 12424189
GO:0008375 acetylglucosaminyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with GCNT2: view
genes like me logo Genes that share phenotypes with GCNT2: view

Human Phenotype Ontology for GCNT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GCNT2 Gene

MGI Knock Outs for GCNT2:

Animal Model Products

miRNA for GCNT2 Gene

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for GCNT2 Gene

Localization for GCNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCNT2 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GCNT2 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GCNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005575 cellular_component ND --
GO:0005794 Golgi apparatus IDA,IEA --
GO:0016020 membrane IEA,TAS 8449405
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GCNT2: view

Pathways & Interactions for GCNT2 Gene

genes like me logo Genes that share pathways with GCNT2: view

Pathways by source for GCNT2 Gene

UniProtKB/Swiss-Prot Q8N0V5-GNT2A_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for GCNT2 Gene

Gene Ontology (GO) - Biological Process for GCNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process TAS 8449405
GO:0006486 protein glycosylation IMP 12424189
GO:0007179 transforming growth factor beta receptor signaling pathway IMP 21750175
GO:0007275 multicellular organism development TAS 9134435
GO:0008284 positive regulation of cell proliferation ISS --
genes like me logo Genes that share ontologies with GCNT2: view

No data available for SIGNOR curated interactions for GCNT2 Gene

Drugs & Compounds for GCNT2 Gene

(4) Drugs for GCNT2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(7) Additional Compounds for GCNT2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Poly-N-acetyllactosamine
  • 2-(Acetylamino)-2-deoxy-4-O-beta-D-galactopyranosyl-D-Glucose
  • 2-(Acetylamino)-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose homopolymer
  • N-Acetyl-4-O-beta-D-galactopyranosyl-D-glucosamine
  • N-Acetyl-lactosamine
  • O-beta-D-Galactopyranosyl-(14)-2-deoxy-2-acetamido-D-glucose
82441-98-3
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with GCNT2: view

Transcripts for GCNT2 Gene

Unigene Clusters for GCNT2 Gene

Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GCNT2 Gene

No ASD Table

Relevant External Links for GCNT2 Gene

GeneLoc Exon Structure for
GCNT2
ECgene alternative splicing isoforms for
GCNT2

Expression for GCNT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GCNT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GCNT2 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.9) and Prostate (x4.2).

Protein differential expression in normal tissues from HIPED for GCNT2 Gene

This gene is overexpressed in Serum (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GCNT2 Gene



Protein tissue co-expression partners for GCNT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GCNT2 Gene:

GCNT2

SOURCE GeneReport for Unigene cluster for GCNT2 Gene:

Hs.519884

mRNA Expression by UniProt/SwissProt for GCNT2 Gene:

Q8N0V5-GNT2A_HUMAN
Tissue specificity: Isoform B is expressed in lens epithelium cells. Isoform C is expressed in reticulocytes.

Evidence on tissue expression from TISSUES for GCNT2 Gene

  • Lung(4.2)
  • Nervous system(4.2)
  • Skin(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GCNT2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • blood
  • peripheral nervous system
  • red blood cell
genes like me logo Genes that share expression patterns with GCNT2: view

Orthologs for GCNT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GCNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCNT2 34 33
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC488215 33
  • 78.86 (n)
GCNT2 34
  • 56 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gcnt2 34 16 33
  • 76.08 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gcnt2 33
  • 75.8 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 64 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves GCNT2 33
  • 63.56 (n)
-- 34
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 60 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491539 33
  • 63.6 (n)
worm
(Caenorhabditis elegans)
Secernentea gly-17 34
  • 25 (a)
ManyToMany
gly-16 34
  • 24 (a)
ManyToMany
gly-18 34
  • 24 (a)
ManyToMany
gly-19 34
  • 23 (a)
ManyToMany
gly-15 34
  • 21 (a)
ManyToMany
gly-1 34
  • 19 (a)
ManyToMany
T27F6.1 34
  • 19 (a)
ManyToMany
F26D2.3 34
  • 17 (a)
ManyToMany
F35H8.2 34
  • 17 (a)
ManyToMany
H41C03.3 34
  • 17 (a)
ManyToMany
T14B4.9 34
  • 17 (a)
ManyToMany
R07B7.6 34
  • 16 (a)
ManyToMany
R07C3.3 34
  • 16 (a)
ManyToMany
T09E11.6 34
  • 16 (a)
ManyToMany
T09E11.9 34
  • 16 (a)
ManyToMany
F30A10.4 34
  • 15 (a)
ManyToMany
T28F3.9 34
  • 15 (a)
ManyToMany
Y51H4A.25 34
  • 15 (a)
ManyToMany
ZK1225.2 34
  • 15 (a)
ManyToMany
Species where no ortholog for GCNT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for GCNT2 Gene

ENSEMBL:
Gene Tree for GCNT2 (if available)
TreeFam:
Gene Tree for GCNT2 (if available)

Paralogs for GCNT2 Gene

Paralogs for GCNT2 Gene

(8) SIMAP similar genes for GCNT2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for GCNT2 Gene

genes like me logo Genes that share paralogs with GCNT2: view

Variants for GCNT2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GCNT2 Gene

GNT2A_HUMAN-Q8N0V5
GCNT2 is involved in determining the blood group I system (Ii) [MIM:110800]. The i (fetal) and I (adult) antigens are determined by linear and branched poly-N-acetyllactosaminoglycans, respectively. A replacement during development of i by I is dependent on the appearance of a beta-1,6-N-acetylglucosaminyltransferase, the I-branching enzyme. The expression of the blood group I antigen in erythrocytes is determined by isoform C of GCNT2.

Sequence variations from dbSNP and Humsavar for GCNT2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1010202319 uncertain-significance, Adult i blood group with or without congenital cataract 10,556,044(+) G/A 5_prime_UTR_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1085307067 uncertain-significance, Cataract 13 with adult i phenotype, I blood group system 10,556,680(+) TATCTA/TA coding_sequence_variant, frameshift, genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs113642669 likely-benign, Adult i blood group with or without congenital cataract 10,626,712(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs114854786 likely-benign, Adult i blood group with or without congenital cataract 10,629,059(+) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs12660274 benign, Adult i blood group with or without congenital cataract 10,555,749(+) G/T 5_prime_UTR_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GCNT2 Gene

Variant ID Type Subtype PubMed ID
dgv10300n54 CNV loss 21841781
dgv1165e214 CNV loss 21293372
dgv373n21 CNV loss 19592680
dgv5917n100 CNV loss 25217958
dgv5918n100 CNV loss 25217958
dgv738n27 CNV loss 19166990
esv1486633 CNV insertion 17803354
esv2657910 CNV deletion 23128226
esv2667708 CNV deletion 23128226
esv2670630 CNV deletion 23128226
esv2731582 CNV deletion 23290073
esv2731585 CNV deletion 23290073
esv2759406 CNV loss 17122850
esv2762578 CNV loss 21179565
esv2763942 CNV loss 21179565
esv33391 CNV gain+loss 17666407
esv34437 CNV loss 17911159
esv3567263 CNV deletion 23714750
esv3567267 CNV deletion 23714750
esv3570768 CNV loss 25503493
esv3570769 CNV loss 25503493
esv3608074 CNV loss 21293372
esv3608075 CNV loss 21293372
esv3608078 CNV loss 21293372
esv3890790 CNV loss 25118596
nsv1022072 CNV gain 25217958
nsv1030024 CNV loss 25217958
nsv10801 CNV loss 18304495
nsv1124029 CNV deletion 24896259
nsv1126070 CNV deletion 24896259
nsv1137063 CNV deletion 24896259
nsv349183 CNV insertion 16902084
nsv436990 CNV loss 16327808
nsv437958 CNV loss 16468122
nsv462631 CNV gain 19166990
nsv470800 CNV gain 18288195
nsv5195 CNV insertion 18451855
nsv600979 CNV gain 21841781
nsv600988 CNV loss 21841781
nsv818399 CNV loss 17921354
nsv966670 CNV duplication 23825009
nsv969349 CNV duplication 23825009

Variation tolerance for GCNT2 Gene

Residual Variation Intolerance Score: 15.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GCNT2 Gene

Human Gene Mutation Database (HGMD)
GCNT2
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCNT2

SNP Genotyping and Copy Number Assay Products

Disorders for GCNT2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GCNT2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cataract 13 with adult i phenotype
  • ctrct13
blood group, i system
  • ii
cataract 44
  • ctrct44
ophthalmia neonatorum
  • gonococcal conjunctivitis
bacterial conjunctivitis
  • purulent conjunctivitis
- elite association - COSMIC cancer census association via MalaCards
Search GCNT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNT2A_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GCNT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GCNT2: view

No data available for Genatlas for GCNT2 Gene

Publications for GCNT2 Gene

  1. The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts. (PMID: 12424189) Yu LC … Lin M (Blood 2003) 3 4 22 44 58
  2. Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family. (PMID: 8449405) Bierhuizen MF … Fukuda M (Genes & development 1993) 2 3 4 22 58
  3. A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression. (PMID: 12468428) Inaba N … Narimatsu H (Blood 2003) 3 4 22 58
  4. Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen. (PMID: 11739194) Yu LC … Lin M (Blood 2001) 3 4 22 58
  5. Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family. (PMID: 7579796) Bierhuizen MF … Fukuda M (Glycobiology 1995) 3 4 22 58

Products for GCNT2 Gene

Sources for GCNT2 Gene

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