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Aliases for MGAT2 Gene

Aliases for MGAT2 Gene

  • 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 61
  • GlcNAc-T II 3 4
  • GNT-II 3 4
  • UDP-N-Acetylglucosamine:Alpha-6-D-Mannoside Beta-1,2-N-Acetylglucosaminyltransferase II 3
  • Alpha-1,6-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase 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 (Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase) is a Protein Coding gene. Diseases associated with MGAT2 include Congenital Disorder Of Glycosylation, Type Iia and Autosomal Recessive Disease. Among its related pathways are N-glycan antennae elongation in the medial/trans-Golgi and Transport to the Golgi and subsequent modification. GO annotations related to this gene include carbohydrate binding and alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot for MGAT2 Gene

  • Catalyzes an essential step in the conversion of oligo-mannose to complex N-glycans.

Gene Wiki entry for MGAT2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MGAT2 Gene

Genomics for MGAT2 Gene

Regulatory Elements for MGAT2 Gene

Enhancers for MGAT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G049594 1.4 Ensembl ENCODE 12.9 -23.3 -23251 7.8 MLX CREB3L1 AGO1 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 RPL36AL LRR1 MGAT2 KLHDC2 POLE2 VCPKMT RHOQP1 ENSG00000252919
GH14G049593 0.6 ENCODE 12.9 -27.6 -27574 0.2 JUNB ZNF398 ZIC2 ZFHX2 GATA2 PRDM10 FOS MAFK ZBTB17 LRR1 MGAT2 RPL36AL RHOQP1 ENSG00000252919
GH14G049830 0.6 ENCODE 11.2 +209.5 209537 0.1 CTCF PKNOX1 PBX2 TRIM22 SMC3 RAD21 NEMF RPL36AL MGAT2 VCPKMT ENSG00000277634 GC14M049783
GH14G049618 1.7 FANTOM5 ENCODE dbSUPER 2.1 +1.4 1415 6.4 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 RPL36AL LRR1 DNAAF2 RNU6ATAC30P VCPKMT RHOQP1 KLHDC2 NEMF ARF6 RPS29
GH14G049879 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.9 +261.4 261414 6.2 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF143 FOS REST ZNF592 POLE2 VCPKMT RHOQP1 RPS29 ARF6 LINC01588 LRR1 RPL36AL MGAT2 SOS2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MGAT2 on UCSC Golden Path with GeneCards custom track

Promoters for MGAT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000274434 29 2801 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for MGAT2 Gene

Chromosome:
14
Start:
49,620,771 bp from pter
End:
49,623,481 bp from pter
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
    Quaternary structure:
    No Data Available

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, posLast=6969, and Asn86
  • Modification sites at PhosphoSitePlus

Other Protein References for MGAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MGAT2 Gene

Protein Domains for MGAT2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MGAT2 Gene

Function for MGAT2 Gene

Molecular function for MGAT2 Gene

GENATLAS Biochemistry:
mannosyl (alpha-1,6-) glycoprotein beta -1,2-N-acetyl-glucosaminyltransferase,Golgi,biosynthesis of complex Asn-linked (N) glycans
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + 6-(alpha-D-mannosyl)-beta-D-mannosyl-R = UDP + 6-(2-(N-acetyl-beta-D-glucosaminyl)-alpha-D-mannosyl)-beta-D-mannosyl-R.
UniProtKB/Swiss-Prot Function:
Catalyzes an essential step in the conversion of oligo-mannose to complex N-glycans.

Enzyme Numbers (IUBMB) 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: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

miRNA for MGAT2 Gene

miRTarBase miRNAs that target MGAT2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 1
cytosol 1

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 --
GO:0005795 Golgi stack IEA --
GO:0016020 membrane TAS,IDA 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 TAS 7635144
GO:0009311 oligosaccharide metabolic process TAS 7635144
GO:0009312 oligosaccharide biosynthetic process IEA --
GO:0018279 protein N-linked glycosylation via asparagine IEA --
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

(1) Drugs for MGAT2 Gene - From: HMDB

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 MGAT2: view

Transcripts for MGAT2 Gene

mRNA/cDNA for MGAT2 Gene

Unigene Clusters for MGAT2 Gene

Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
MGAT2

Expression for MGAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MGAT2 Gene



Protein tissue co-expression partners for MGAT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MGAT2 Gene:

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(2.2)

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
Organs:
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

Primer Products

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 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia MGAT2 34 35
  • 93.05 (n)
cow
(Bos Taurus)
Mammalia MGAT2 34 35
  • 91.33 (n)
mouse
(Mus musculus)
Mammalia Mgat2 34 16 35
  • 88.08 (n)
rat
(Rattus norvegicus)
Mammalia Mgat2 34
  • 88.08 (n)
oppossum
(Monodelphis domestica)
Mammalia MGAT2 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MGAT2 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MGAT2 34
  • 70.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mgat2 34
  • 66.28 (n)
Str.6260 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6403 34
zebrafish
(Danio rerio)
Actinopterygii mgat2 34 35
  • 61.53 (n)
Dr.14547 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6109 34
fruit fly
(Drosophila melanogaster)
Insecta Mgat2 36 34 35
  • 50.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004397 34
  • 49.67 (n)
worm
(Caenorhabditis elegans)
Secernentea gly-20 34 35
  • 46.74 (n)
C03E10.4 36
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G05320 34
  • 46.58 (n)
rice
(Oryza sativa)
Liliopsida Os02g0798100 34
  • 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)

Paralogs for MGAT2 Gene

No data available for Paralogs for MGAT2 Gene

Variants for MGAT2 Gene

Sequence variations from dbSNP and Humsavar for MGAT2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs104894446 Pathogenic, Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066] 49,622,137(+) TCTCT(C/T)CCTGG upstream-variant-2KB, reference, missense
rs104894447 Pathogenic, Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066] 49,622,053(+) GGATC(A/G)CTACT upstream-variant-2KB, reference, missense
rs104894448 Pathogenic, Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066] 49,622,220(+) AGCAC(A/G)ATATG upstream-variant-2KB, reference, missense
rs104894449 Pathogenic 49,622,285(+) TTCTG(A/T)ACTTA upstream-variant-2KB, reference, stop-gained
rs730882218 Pathogenic 49,621,979(+) TGGAA(C/G)CTGCA upstream-variant-2KB, reference, missense

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)

Relevant External Links for MGAT2 Gene

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

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

Disorders for MGAT2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iia
  • mgat2-cdg
autosomal recessive disease
  • autosomal recessive disorder
congenital disorder of glycosylation, type in
  • congenital disorder of glycosylation
- 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.

Relevant External Links for MGAT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Eur. J. Biochem. 1995) 2 3 4 22 64
  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. (Am. J. Hum. Genet. 1996) 3 4 22 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. (PMID: 11805078) Wang Y. … Marth J.D. (Glycobiology 2001) 3 22 64

Products for MGAT2 Gene

Sources for MGAT2 Gene

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