The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein s... See more...

Aliases for MGAT2 Gene

Aliases for MGAT2 Gene

  • Alpha-1,6-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase 2 3 4
  • Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase 2 3 5
  • N-Glycosyl-Oligosaccharide-Glycoprotein N-Acetylglucosaminyltransferase II 3 4
  • Beta-1,2-N-Acetylglucosaminyltransferase II 3 4
  • Mannoside Acetylglucosaminyltransferase 2 3 4
  • EC 2.4.1.143 4 52
  • GlcNAc-T II 3 4
  • GNT-II 3 4
  • UDP-N-Acetylglucosamine:Alpha-6-D-Mannoside Beta-1,2-N-Acetylglucosaminyltransferase II 3
  • GLCNACTII 3
  • CDG2A 3
  • CDGS2 3
  • GNT2 3

External Ids for MGAT2 Gene

Previous GeneCards Identifiers for MGAT2 Gene

  • GC14P047409
  • GC14P043883
  • GC14P048077
  • GC14P049157
  • GC14P050087
  • GC14P030204

Summaries for MGAT2 Gene

Entrez Gene Summary for MGAT2 Gene

  • The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for MGAT2 Gene

MGAT2 (Alpha-1,6-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase) is a Protein Coding gene. Diseases associated with MGAT2 include Congenital Disorder Of Glycosylation, Type Iia and Ciliary Dyskinesia, Primary, 10. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot Summary for MGAT2 Gene

  • Plays an essential role in protein N-glycosylation. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) onto the free terminal mannose moiety in the core structure of the nascent N-linked glycan chain, giving rise to the second branch in complex glycans.

Gene Wiki entry for MGAT2 Gene

Additional gene information for MGAT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MGAT2 Gene

Genomics for MGAT2 Gene

GeneHancer (GH) Regulatory Elements for MGAT2 Gene

Promoters and enhancers for MGAT2 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
GH14J049616 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 502.1 +0.3 262 8.7 EP300 ZBTB40 ZNF217 TCF12 POLR2G USF1 SP1 NCOR1 GTF2E2 PHF8 RPL36AL MGAT2 RPL36AP42 LRR1 DNAAF2 RNU6ATAC30P VCPKMT RHOQP1 KLHDC2 NEMF
GH14J049594 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.9 -23.3 -23251 7.8 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G NCOR1 GTF2E2 PHF8 LRR1 RPS29 lnc-RPL36AL-3 RPL36AL VCPKMT MGAT2 RHOQP1 ENSG00000278009 ENSG00000252919
GH14J049830 Enhancer 0.5 ENCODE 11.2 +209.5 209537 0.1 CTCF TRIM22 SMC3 RAD21 PBX2 PKNOX1 MEIS2 SPI1 lnc-POLE2-5 NEMF MGAT2 RPL36AL VCPKMT piR-43105-164
GH14J049593 Enhancer 0.4 ENCODE 12.9 -27.6 -27573 0.2 FOS MAFK GATA2 JUNB ENSG00000252919 KY994054-019 LRR1 RPL36AL MGAT2 RHOQP1 RPS29 lnc-RPL36AL-3
GH14J049879 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.9 +261.4 261363 6.3 ZNF217 CTCF ZNF10 ZIC2 ZBTB10 ZNF510 REST RFX1 MYC TGIF2 RPL36AL ARF6 LINC01588 LRR1 MGAT2 SOS2 lnc-ARF6-13
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MGAT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MGAT2

Top Transcription factor binding sites by QIAGEN in the MGAT2 gene promoter:
  • c-Myb
  • C/EBPalpha
  • CREB
  • Elk-1
  • HOXA5
  • LCR-F1
  • NRF-2
  • Pax-5
  • TBP

Genomic Locations for MGAT2 Gene

Genomic Locations for MGAT2 Gene
chr14:49,620,771-49,623,481
(GRCh38/hg38)
Size:
2,711 bases
Orientation:
Plus strand
chr14:50,087,489-50,090,199
(GRCh37/hg19)
Size:
2,711 bases
Orientation:
Plus strand

Genomic View for MGAT2 Gene

Genes around MGAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MGAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MGAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MGAT2 Gene

Proteins for MGAT2 Gene

  • Protein details for MGAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q10469-MGAT2_HUMAN
    Recommended name:
    Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
    Protein Accession:
    Q10469
    Secondary Accessions:
    • B3KPC5
    • B3KQM0

    Protein attributes for MGAT2 Gene

    Size:
    447 amino acids
    Molecular mass:
    51550 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MGAT2 Gene

neXtProt entry for MGAT2 Gene

Selected DME Specific Peptides for MGAT2 Gene

Q10469:
  • APDFYHVFKKMW
  • DPRDCPRDL
  • ADKVDVKTWKSTEHNMGLALTR

Post-translational modifications for MGAT2 Gene

  • Glycosylation at Ser59, Asn69, and Asn86
  • Modification sites at PhosphoSitePlus

Other Protein References for MGAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MGAT2 Gene

Gene Families for MGAT2 Gene

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

Protein Domains for MGAT2 Gene

Blocks:
  • N-acetylglucosaminyltransferase II
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MGAT2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55952, highly similar to Alpha-1,6-mannosyl-glycoprotein2-beta-N- acetylglucosaminyltransferase (EC 2.4.1.143) (B4DDK9_HUMAN)
  • N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II (MGAT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q10469

UniProtKB/Swiss-Prot:

MGAT2_HUMAN :
  • Belongs to the glycosyltransferase 16 (GT16) protein family.
Family:
  • Belongs to the glycosyltransferase 16 (GT16) protein family.
genes like me logo Genes that share domains with MGAT2: view

Function for MGAT2 Gene

Molecular function for MGAT2 Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role in protein N-glycosylation. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) onto the free terminal mannose moiety in the core structure of the nascent N-linked glycan chain, giving rise to the second branch in complex glycans.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP; Xref=Rhea:RHEA:12941, Rhea:RHEA-COMP:13526, Rhea:RHEA-COMP:14369, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:60615, ChEBI:CHEBI:60651; EC=2.4.1.143; Evidence={ECO:0000269 PubMed:29666272, ECO:0000269 PubMed:7635144, ECO:0000269 PubMed:8808595};.
GENATLAS Biochemistry:
mannosyl (alpha-1,6-) glycoprotein beta -1,2-N-acetyl-glucosaminyltransferase,Golgi,biosynthesis of complex Asn-linked (N) glycans

Enzyme Numbers (IUBMB) for MGAT2 Gene

Phenotypes From GWAS Catalog for MGAT2 Gene

Gene Ontology (GO) - Molecular Function for MGAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008455 alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030145 manganese ion binding IDA 29666272
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with MGAT2: view
genes like me logo Genes that share phenotypes with MGAT2: view

Human Phenotype Ontology for MGAT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MGAT2 Gene

MGI Knock Outs for MGAT2:

Animal Model Products

CRISPR Products

miRNA for MGAT2 Gene

miRTarBase miRNAs that target MGAT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MGAT2

Clone Products

  • Addgene plasmids for MGAT2

No data available for Transcription Factor Targets and HOMER Transcription for MGAT2 Gene

Localization for MGAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGAT2 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 MGAT2 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
plasma membrane 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MGAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA,IEA --
GO:0005795 Golgi stack IEA --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MGAT2: view

Pathways & Interactions for MGAT2 Gene

genes like me logo Genes that share pathways with MGAT2: view

UniProtKB/Swiss-Prot Q10469-MGAT2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for MGAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IEA --
GO:0009312 oligosaccharide biosynthetic process IEA --
GO:0018279 protein N-linked glycosylation via asparagine IMP,IEA 8808595
genes like me logo Genes that share ontologies with MGAT2: view

No data available for SIGNOR curated interactions for MGAT2 Gene

Drugs & Compounds for MGAT2 Gene

(2) Drugs for MGAT2 Gene - From: HMDB and Novoseek

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

(2) Additional Compounds for MGAT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with MGAT2: view

Transcripts for MGAT2 Gene

mRNA/cDNA for MGAT2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MGAT2

Clone Products

  • Addgene plasmids for MGAT2

Alternative Splicing Database (ASD) splice patterns (SP) for MGAT2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c
SP1: -
SP2:

Relevant External Links for MGAT2 Gene

GeneLoc Exon Structure for
MGAT2

Expression for MGAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MGAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MGAT2 Gene

This gene is overexpressed in Breast (39.1) and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MGAT2 Gene



Protein tissue co-expression partners for MGAT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MGAT2

SOURCE GeneReport for Unigene cluster for MGAT2 Gene:

Hs.93338

Evidence on tissue expression from TISSUES for MGAT2 Gene

  • Nervous system(4.6)
  • Blood(4.1)
  • Kidney(2.3)
  • Liver(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MGAT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MGAT2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MGAT2 Gene

Orthologs for MGAT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MGAT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MGAT2 30
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia MGAT2 31 30
  • 93.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MGAT2 31 30
  • 91.33 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mgat2 17 31 30
  • 88.08 (n)
rat
(Rattus norvegicus)
Mammalia Mgat2 30
  • 88.08 (n)
oppossum
(Monodelphis domestica)
Mammalia MGAT2 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MGAT2 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MGAT2 30
  • 70.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mgat2 30
  • 66.28 (n)
Str.6260 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6403 30
zebrafish
(Danio rerio)
Actinopterygii mgat2 31 30
  • 61.53 (n)
OneToOne
Dr.14547 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6109 30
fruit fly
(Drosophila melanogaster)
Insecta Mgat2 31 32 30
  • 50.99 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004397 30
  • 49.67 (n)
worm
(Caenorhabditis elegans)
Secernentea gly-20 31 30
  • 46.74 (n)
OneToOne
C03E10.4 32
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G05320 30
  • 46.58 (n)
rice
(Oryza sativa)
Liliopsida Os02g0798100 30
  • 47.82 (n)
Species where no ortholog for MGAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MGAT2 Gene

ENSEMBL:
Gene Tree for MGAT2 (if available)
TreeFam:
Gene Tree for MGAT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MGAT2: view image

Paralogs for MGAT2 Gene

No data available for Paralogs for MGAT2 Gene

Variants for MGAT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MGAT2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
639157 Uncertain Significance: Congenital disorder of glycosylation, type IIa 49,621,336(+) T/C MISSENSE_VARIANT
648000 Uncertain Significance: Congenital disorder of glycosylation, type IIa 49,622,118(+) C/T MISSENSE_VARIANT
653562 Uncertain Significance: Congenital disorder of glycosylation, type IIa 49,621,518(+) G/T MISSENSE_VARIANT
680170 Likely Benign: not provided 49,621,679(+) A/T SYNONYMOUS_VARIANT
682115 Likely Benign: not provided 49,622,558(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MGAT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MGAT2 Gene

Variant ID Type Subtype PubMed ID
esv28926 CNV gain+loss 19812545
nsv976338 CNV duplication 23825009

Variation tolerance for MGAT2 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MGAT2 Gene

Human Gene Mutation Database (HGMD)
MGAT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MGAT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MGAT2 Gene

Disorders for MGAT2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MGAT2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iia
  • cdg2a
ciliary dyskinesia, primary, 10
  • cild10
congenital dyserythropoietic anemia
  • cda
schwartz-jampel syndrome, type 1
  • kniest-like dysplasia with pursed lips and ectopia lentis
autosomal recessive disease
  • autosomal recessive disorder
- elite association - COSMIC cancer census association via MalaCards
Search MGAT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MGAT2_HUMAN
  • Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066]: A multisystem disorder 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. {ECO:0000269 PubMed:11228641, ECO:0000269 PubMed:8808595}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MGAT2

genes like me logo Genes that share disorders with MGAT2: view

No data available for Genatlas for MGAT2 Gene

Publications for MGAT2 Gene

  1. The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein. (PMID: 7635144) Tan J … Schachter H (European journal of biochemistry 1995) 2 3 4 23 54
  2. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. (PMID: 8808595) Tan J … Schachter H (American journal of human genetics 1996) 3 4 23 54
  3. Human N-acetylglucosaminyltransferase II substrate recognition uses a modular architecture that includes a convergent exosite. (PMID: 29666272) Kadirvelraj R … Moremen KW (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 4 54
  4. Golgi N-glycosyltransferases form both homo- and heterodimeric enzyme complexes in live cells. (PMID: 20378551) Hassinen A … Kellokumpu S (The Journal of biological chemistry 2010) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for MGAT2 Gene

Sources for MGAT2 Gene