MGAT5B Gene (Protein Coding)

Alpha-1,6-Mannosylglycoprotein 6-Beta-N-Acetylglucosaminyltransferase B

GC17P076868
GIFtS:
39
The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008] See more...

Aliases for MGAT5B Gene

Aliases for MGAT5B Gene

  • Alpha-1,6-Mannosylglycoprotein 6-Beta-N-Acetylglucosaminyltransferase B 2 3 4 5
  • Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,6-N-Acetyl-Glucosaminyltransferase, Isozyme B 2 3
  • Alpha-Mannoside Beta-1,6-N-Acetylglucosaminyltransferase B 3 4
  • Mannoside Acetylglucosaminyltransferase 5B 3 4
  • N-Acetylglucosaminyl-Transferase Vb 3 4
  • N-Acetylglucosaminyltransferase IX 3 4
  • GlcNAc-T Vb 3 4
  • GnT-IX 2 3
  • GnT-VB 2 3
  • HGnTVb 3 4
  • Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,6-N-Acetyl-Glucosaminyltransferase, Isoenzyme B 3
  • Beta(1,6)-N-Acetylglucosaminyltransferase V 3
  • EC 2.4.1.155 4
  • EC 2.4.1.- 4
  • FLJ25132 2
  • KIAA2008 4
  • MGAT5B 5
  • GNT-Vb 4
  • GNT-IX 4

External Ids for MGAT5B Gene

Previous GeneCards Identifiers for MGAT5B Gene

  • GC17P075461
  • GC17P072376
  • GC17P074864
  • GC17P070291

Summaries for MGAT5B Gene

Entrez Gene Summary for MGAT5B Gene

  • The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]

GeneCards Summary for MGAT5B Gene

MGAT5B (Alpha-1,6-Mannosylglycoprotein 6-Beta-N-Acetylglucosaminyltransferase B) is a Protein Coding gene. Diseases associated with MGAT5B include Muscular Dystrophy, Congenital, Lmna-Related and Walker-Warburg Syndrome. Among its related pathways are Mannose type O-glycan biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity. An important paralog of this gene is MGAT5.

UniProtKB/Swiss-Prot Summary for MGAT5B Gene

  • Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAc-beta1,2-Man-alpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAc-beta1,2-Man-alpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway.

Gene Wiki entry for MGAT5B Gene

Additional gene information for MGAT5B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MGAT5B Gene

Genomics for MGAT5B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MGAT5B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MGAT5B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MGAT5B

Top Transcription factor binding sites by QIAGEN in the MGAT5B gene promoter:
  • Elk-1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for MGAT5B Gene

Latest Assembly
chr17:76,868,404-76,950,393
(GRCh38/hg38)
Size:
81,990 bases
Orientation:
Plus strand

Previous Assembly
chr17:74,864,486-74,946,475
(GRCh37/hg19 by Entrez Gene)
Size:
81,990 bases
Orientation:
Plus strand

chr17:74,864,538-74,946,475
(GRCh37/hg19 by Ensembl)
Size:
81,938 bases
Orientation:
Plus strand

Genomic View for MGAT5B Gene

Genes around MGAT5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MGAT5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MGAT5B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MGAT5B Gene

Proteins for MGAT5B Gene

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  3. Assay products for research

  • Protein details for MGAT5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3V5L5-MGT5B_HUMAN
    Recommended name:
    Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
    Protein Accession:
    Q3V5L5
    Secondary Accessions:
    • Q6P3S8
    • Q6P6B3
    • Q766X5
    • Q76D04
    • Q96LS2

    Protein attributes for MGAT5B Gene

    Size:
    792 amino acids
    Molecular mass:
    89535 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH62354.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAH63862.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAB71598.1; Type=Miscellaneous discrepancy; Note=Chimeric sequence.; Evidence={ECO:0000305}; Sequence=BAD02406.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAE44474.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for MGAT5B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MGAT5B Gene

Protein Expression for MGAT5B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MGAT5B Gene

  • Glycosylation at Asn127
  • Modification sites at PhosphoSitePlus

Other Protein References for MGAT5B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MGAT5B Gene

Domains & Families for MGAT5B Gene

Gene Families for MGAT5B Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MGAT5B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MGAT5B Gene

GenScript: Design optimal peptide antigens:
  • N-acetylglucosaminyltransferase IX (MGT5B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3V5L5

UniProtKB/Swiss-Prot:

MGT5B_HUMAN :
  • Belongs to the glycosyltransferase 18 family.
Family:
  • Belongs to the glycosyltransferase 18 family.
genes like me logo Genes that share domains with MGAT5B: view

Function for MGAT5B Gene

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  6. Cell Lines for research

Molecular function for MGAT5B Gene

UniProtKB/Swiss-Prot Function:
Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAc-beta1,2-Man-alpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAc-beta1,2-Man-alpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAcl-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAcl-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP; Xref=Rhea:RHEA:16921, Rhea:RHEA-COMP:14374, Rhea:RHEA-COMP:14377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:139507, ChEBI:CHEBI:139510; EC=2.4.1.155; Evidence={ECO:0000269|PubMed:12941944, ECO:0000269|PubMed:14623122, ECO:0000269|PubMed:19846580};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-[N-acetyl-beta-D-glucosaminyl-(1->2)-alpha-D-mannosyl]-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + O(3)-{N-acetyl-beta-D-glucosaminyl-(1->2)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-alpha-D-mannosyl}-L-seryl-[protein] + UDP; Xref=Rhea:RHEA:56252, Rhea:RHEA-COMP:14438, Rhea:RHEA-COMP:14440, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:140080, ChEBI:CHEBI:140085; Evidence={ECO:0000269|PubMed:12941944, ECO:0000269|PubMed:14617637, ECO:0000269|PubMed:14623122};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-[N-acetyl-beta-D-glucosaminyl-(1->2)-alpha-D-mannosyl]-L-threonyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + O(3)-{N-acetyl-beta-D-glucosaminyl-(1->2)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-alpha-D-mannosyl}-L-threonyl-[protein] + UDP; Xref=Rhea:RHEA:56256, Rhea:RHEA-COMP:14439, Rhea:RHEA-COMP:14441, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:140083, ChEBI:CHEBI:140087; Evidence={ECO:0000269|PubMed:12941944, ECO:0000269|PubMed:14617637, ECO:0000269|PubMed:14623122, ECO:0000269|PubMed:19846580};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.56 mM for UDP-GlcNAc {ECO:0000269|PubMed:19846580}; pH dependence: Optimum pH is 8.0. {ECO:0000269|PubMed:19846580};

Enzyme Numbers (IUBMB) for MGAT5B Gene

Phenotypes From GWAS Catalog for MGAT5B Gene

Gene Ontology (GO) - Molecular Function for MGAT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23088713
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030144 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity IEA,IDA 19846580
GO:0030145 manganese ion binding IDA 19846580
genes like me logo Genes that share ontologies with MGAT5B: view
genes like me logo Genes that share phenotypes with MGAT5B: view

Animal Models for MGAT5B Gene

MGI Knock Outs for MGAT5B:

Animal Models for research

  • Taconic Biosciences Mouse Models for MGAT5B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MGAT5B

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MGAT5B Gene

Localization for MGAT5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGAT5B 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 MGAT5B gene
Compartment Confidence
golgi apparatus 4
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Mitotic spindle (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MGAT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus IEA,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MGAT5B: view

Pathways & Interactions for MGAT5B Gene

genes like me logo Genes that share pathways with MGAT5B: view

Pathways by source for MGAT5B Gene

UniProtKB/Swiss-Prot Q3V5L5-MGT5B_HUMAN

  • Pathway: Protein modification; protein glycosylation.

SIGNOR curated interactions for MGAT5B Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MGAT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IEA,IBA 21873635
GO:0018215 protein phosphopantetheinylation IEA --
GO:0018242 protein O-linked glycosylation via serine IDA 19846580
genes like me logo Genes that share ontologies with MGAT5B: view

Drugs & Compounds for MGAT5B Gene

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(2) Drugs for MGAT5B Gene - From: HMDB and Novoseek

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

(1) Additional Compounds for MGAT5B Gene - From: HMDB

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 MGAT5B: view

Transcripts for MGAT5B Gene

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mRNA/cDNA for MGAT5B Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MGAT5B

Alternative Splicing Database (ASD) splice patterns (SP) for MGAT5B Gene

No ASD Table

Relevant External Links for MGAT5B Gene

GeneLoc Exon Structure for
MGAT5B

Expression for MGAT5B Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MGAT5B Gene

mRNA expression in normal human tissues for MGAT5B Gene
mRNA expression by BioGPS for MGAT5B GenemRNA expression by GTEx for MGAT5B Gene

mRNA differential expression in normal tissues according to GTEx for MGAT5B Gene

This gene is overexpressed in Brain - Cortex (x10.9), Brain - Frontal Cortex (BA9) (x8.5), Brain - Anterior cingulate cortex (BA24) (x5.8), Brain - Putamen (basal ganglia) (x5.5), Brain - Amygdala (x4.2), and Brain - Caudate (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for MGAT5B Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MGAT5B Gene



Protein tissue co-expression partners for MGAT5B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MGAT5B

SOURCE GeneReport for Unigene cluster for MGAT5B Gene:

Hs.144531

mRNA Expression by UniProt/SwissProt for MGAT5B Gene:

Q3V5L5-MGT5B_HUMAN
Tissue specificity: Predominantly expressed in brain. Expressed in all area of the adult and fetal brain Also expressed at much lower level in testis, spleen and thymus.

Evidence on tissue expression from TISSUES for MGAT5B Gene

  • Nervous system(4.6)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with MGAT5B: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MGAT5B Gene

Orthologs for MGAT5B Gene

This gene was present in the common ancestor of animals.

Orthologs for MGAT5B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MGAT5B 30 31
  • 96.37 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MGAT5B 30 31
  • 91.46 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MGAT5B 30 31
  • 91.11 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mgat5b 30 17 31
  • 87.67 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mgat5b 30
  • 86.96 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MGAT5B 31
  • 82 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MGAT5B 31
  • 73 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MGAT5B 30 31
  • 79.41 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MGAT5B 31
  • 81 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mgat5b 30
  • 70.06 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.12314 30
Zebrafish
(Danio rerio)
 Actinopterygii LOC101884072 30
  • 71.41 (n)
MGAT5B 31
  • 70 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea gly-2 31
  • 33 (a)
 OneToMany
Species where no ortholog for MGAT5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 Vase (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)

Evolution for MGAT5B Gene

ENSEMBL:
Gene Tree for MGAT5B (if available)
TreeFam:
Gene Tree for MGAT5B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MGAT5B: view image

Paralogs for MGAT5B Gene

Paralogs for MGAT5B Gene

(1) SIMAP similar genes for MGAT5B Gene using alignment to 3 proteins:

  • MGT5B_HUMAN
  • H3BQ65_HUMAN
  • H3BR20_HUMAN
genes like me logo Genes that share paralogs with MGAT5B: view

Variants for MGAT5B Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MGAT5B Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs571264 - p.Val70Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MGAT5B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MGAT5B Gene

Variant ID Type Subtype PubMed ID
esv2546238 CNV insertion 19546169
nsv1059991 CNV loss 25217958
nsv1071404 CNV deletion 25765185
nsv1123146 CNV deletion 24896259
nsv457912 CNV loss 19166990
nsv510443 OTHER sequence alteration 20534489
nsv521914 CNV loss 19592680
nsv524066 CNV loss 19592680
nsv576068 CNV loss 21841781
nsv576069 CNV loss 21841781
nsv576070 CNV loss 21841781
nsv833550 CNV loss 17160897

Variation tolerance for MGAT5B Gene

Residual Variation Intolerance Score: 13.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.98; 87.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MGAT5B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MGAT5B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MGAT5B Gene

Disorders for MGAT5B Gene

MalaCards: The human disease database

(2) MalaCards diseases for MGAT5B Gene - From: COP

Disorder Aliases PubMed IDs
muscular dystrophy, congenital, lmna-related
  • mdcl
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MGAT5B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MGAT5B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MGAT5B Gene

Publications for MGAT5B Gene

  1. N-Acetylglucosaminyltransferase IX acts on the GlcNAc beta 1,2-Man alpha 1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. (PMID: 14617637) Inamori K … Taniguchi N (The Journal of biological chemistry 2004) 2 3 4 23
  2. A novel beta(1,6)-N-acetylglucosaminyltransferase V (GnT-VB)(1). (PMID: 14623122) Kaneko M … Pierce M (FEBS letters 2003) 2 3 4 23
  3. Comparison of the substrate specificities and catalytic properties of the sister N-acetylglucosaminyltransferases, GnT-V and GnT-Vb (IX). (PMID: 19846580) Alvarez-Manilla G … Pierce M (Glycobiology 2010) 3 4 23
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

ExternalLinks

View latest publications for MGAT5B gene in Mastermind

Products for MGAT5B Gene

Sources for MGAT5B Gene