Aliases for MGAT4C Gene

Aliases for MGAT4C Gene

  • MGAT4 Family Member C 2 3 5
  • Mannosyl (Alpha-1,3-)-Glycoprotein Beta-1,4-N-Acetylglucosaminyltransferase, Isozyme C (Putative) 2 3
  • UDP-N-Acetylglucosamine: Alpha-1,3-D-Mannoside Beta-1,4-N-Acetylglucosaminyltransferase IVc 3 4
  • N-Glycosyl-Oligosaccharide-Glycoprotein N-Acetylglucosaminyltransferase IVc 3 4
  • Alpha-1,3-Mannosyl-Glycoprotein 4-Beta-N-Acetylglucosaminyltransferase C 3 4
  • N-Acetylglucosaminyltransferase IV Homolog 3 4
  • N-Acetylglucosaminyltransferase IVc 3 4
  • GlcNAc-T IVc 3 4
  • EC 2.4.1.145 4 51
  • HGNT-IV-H 2 3
  • GnT-IVc 3 4
  • UDP-N-Acetylglucosamine:A-1,3-D-Mannoside Beta-1,4-N-Acetylglucosaminyltransferase IV-Homolog 3
  • UDP-N-Acetylglucosamine:A-1,3-D-Mannoside Beta-1,4-N-Acetylglucosaminyltransferase IV 3
  • MGAT4 Family, Member C 2
  • HGnT-IV-H 4
  • GNTIVH 3
  • MGAT4C 5

External Ids for MGAT4C Gene

Previous GeneCards Identifiers for MGAT4C Gene

  • GC12M084876
  • GC12M086372
  • GC12M083429

Summaries for MGAT4C Gene

GeneCards Summary for MGAT4C Gene

MGAT4C (MGAT4 Family Member C) is a Protein Coding gene. Diseases associated with MGAT4C include Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 and Glycogen Storage Disease Iii. 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 transferase activity, transferring hexosyl groups and alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity. An important paralog of this gene is MGAT4A.

UniProtKB/Swiss-Prot Summary for MGAT4C Gene

  • Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains (By similarity). Does not catalyze the transfer of GlcNAc to the Manalpha1-6 arm to form GlcNAcBeta1-4Manalpha1-6 linkage ('GnT-VI' activity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MGAT4C Gene

Genomics for MGAT4C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MGAT4C 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
GH12J086838 Promoter/Enhancer 0.9 EPDnew Ensembl 250.7 +1.1 1099 2.6 MAFF ZNF316 MAFK MAFG CTCF POLR2A RAD21 EMSY ENSG00000258185 MGAT4C piR-30126-002 NTS
GH12J086256 Promoter 0.6 EPDnew 250 +582.6 582595 0.1 PKNOX1 POLR2A RAD21 lnc-MGAT4C-1 MGAT4C LOC105369877 HSALNG0092839 NTS ENSG00000258185
GH12J086199 Promoter 0.3 EPDnew 257.8 +639.7 639655 0.1 MGAT4C HSALNG0092839 piR-31199-072 lnc-MGAT4C-1 NTS ENSG00000258185
GH12J085947 Enhancer 0.6 Ensembl ENCODE 25.3 +890.3 890316 2.5 ETS1 EGR1 SP1 POU5F1 NANOG MGAT4C NTS ENSG00000258178 HSALNG0092832 piR-56133-059
GH12J085952 Enhancer 0.3 Ensembl 25.1 +886.5 886499 0.6 CTCF RAD21 MGAT4C HSALNG0092832 piR-56133-059 NTS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MGAT4C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MGAT4C

Top Transcription factor binding sites by QIAGEN in the MGAT4C gene promoter:
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-3
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Msx-1
  • POU6F1 (c2)

Genomic Locations for MGAT4C Gene

Latest Assembly
chr12:85,955,666-86,839,000
(GRCh38/hg38)
Size:
883,335 bases
Orientation:
Minus strand

Previous Assembly
chr12:86,349,446-87,232,777
(GRCh37/hg19 by Entrez Gene)
Size:
883,332 bases
Orientation:
Minus strand

chr12:86,372,516-87,232,681
(GRCh37/hg19 by Ensembl)
Size:
860,166 bases
Orientation:
Minus strand

Genomic View for MGAT4C Gene

Genes around MGAT4C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MGAT4C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MGAT4C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MGAT4C Gene

Proteins for MGAT4C Gene

  • Protein details for MGAT4C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBM8-MGT4C_HUMAN
    Recommended name:
    Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C
    Protein Accession:
    Q9UBM8
    Secondary Accessions:
    • B4DRH2
    • Q4G199
    • Q9UIU5

    Protein attributes for MGAT4C Gene

    Size:
    478 amino acids
    Molecular mass:
    56061 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH26068.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for MGAT4C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MGAT4C Gene

Selected DME Specific Peptides for MGAT4C Gene

Q9UBM8:
  • WVTLEFSKLGYIGKLY
  • KPSLFQH
  • LTIGLSSV
  • FRSKQNVDY
  • FYQEMPCD

Post-translational modifications for MGAT4C Gene

  • Glycosylation at Asn84 and Asn215
  • Modification sites at PhosphoSitePlus

Domains & Families for MGAT4C Gene

Gene Families for MGAT4C Gene

Protein Domains for MGAT4C Gene

InterPro:
Blocks:
  • Like-Sm ribonucleoprotein-related, core
ProtoNet:

Suggested Antigen Peptide Sequences for MGAT4C Gene

GenScript: Design optimal peptide antigens:
  • UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVc (MGT4C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBM8

UniProtKB/Swiss-Prot:

MGT4C_HUMAN :
  • Belongs to the glycosyltransferase 54 family.
Family:
  • Belongs to the glycosyltransferase 54 family.
genes like me logo Genes that share domains with MGAT4C: view

Function for MGAT4C Gene

Molecular function for MGAT4C Gene

UniProtKB/Swiss-Prot Function:
Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains (By similarity). Does not catalyze the transfer of GlcNAc to the Manalpha1-6 arm to form GlcNAcBeta1-4Manalpha1-6 linkage ('GnT-VI' activity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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-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)-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:16057, Rhea:RHEA-COMP:13526, Rhea:RHEA-COMP:14374, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:60651, ChEBI:CHEBI:139507; EC=2.4.1.145;.

Enzyme Numbers (IUBMB) for MGAT4C Gene

Phenotypes From GWAS Catalog for MGAT4C Gene

Gene Ontology (GO) - Molecular Function for MGAT4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IBA 21873635
GO:0008454 alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MGAT4C: view
genes like me logo Genes that share phenotypes with MGAT4C: view

Animal Models for MGAT4C Gene

MGI Knock Outs for MGAT4C:
  • Mgat4c Mgat4c<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MGAT4C

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MGAT4C Gene

Localization for MGAT4C Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGAT4C 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 MGAT4C gene
Compartment Confidence
golgi apparatus 5
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
cytoskeleton 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MGAT4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MGAT4C: view

Pathways & Interactions for MGAT4C Gene

genes like me logo Genes that share pathways with MGAT4C: view

UniProtKB/Swiss-Prot Q9UBM8-MGT4C_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for MGAT4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IBA 21873635
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with MGAT4C: view

No data available for SIGNOR curated interactions for MGAT4C Gene

Drugs & Compounds for MGAT4C Gene

(1) Drugs for MGAT4C Gene - From: HMDB

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

(1) Additional Compounds for MGAT4C 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 MGAT4C: view

Transcripts for MGAT4C Gene

mRNA/cDNA for MGAT4C Gene

10 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 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 MGAT4C

Alternative Splicing Database (ASD) splice patterns (SP) for MGAT4C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d
SP1:
SP2: - - - -
SP3: - - - -
SP4: - - - - -

Relevant External Links for MGAT4C Gene

GeneLoc Exon Structure for
MGAT4C

Expression for MGAT4C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MGAT4C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MGAT4C Gene

This gene is overexpressed in Thyroid (x5.4), Brain - Nucleus accumbens (basal ganglia) (x4.6), Testis (x4.4), and Brain - Caudate (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for MGAT4C Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (48.2) and Bone marrow stromal cell (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MGAT4C Gene



Protein tissue co-expression partners for MGAT4C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MGAT4C

SOURCE GeneReport for Unigene cluster for MGAT4C Gene:

Hs.589093

mRNA Expression by UniProt/SwissProt for MGAT4C Gene:

Q9UBM8-MGT4C_HUMAN
Tissue specificity: Expressed in heart, adrenal gland, testis, liver, brain and fetal brain. Not expressed in pancreas.

Evidence on tissue expression from TISSUES for MGAT4C Gene

  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with MGAT4C: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MGAT4C Gene

Orthologs for MGAT4C Gene

This gene was present in the common ancestor of animals.

Orthologs for MGAT4C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MGAT4C 30 31
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MGAT4C 30 31
  • 93.86 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MGAT4C 30 31
  • 90.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mgat4c 30
  • 90.24 (n)
Mouse
(Mus musculus)
Mammalia Mgat4c 30 17 31
  • 88.98 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MGAT4C 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MGAT4C 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MGAT4C 30 31
  • 79.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MGAT4C 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mgat4c 30
  • 74.5 (n)
Zebrafish
(Danio rerio)
Actinopterygii mgat4c 31
  • 78 (a)
OneToOne
LOC100333333 30
  • 69.49 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG17173 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.589 31
  • 25 (a)
ManyToMany
-- 31
  • 19 (a)
ManyToMany
Species where no ortholog for MGAT4C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for MGAT4C Gene

ENSEMBL:
Gene Tree for MGAT4C (if available)
TreeFam:
Gene Tree for MGAT4C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MGAT4C: view image

Paralogs for MGAT4C Gene

Paralogs for MGAT4C Gene

(2) SIMAP similar genes for MGAT4C Gene using alignment to 4 proteins:

  • MGT4C_HUMAN
  • B4DRH2_HUMAN
  • F8VTY5_HUMAN
  • F8VWY2_HUMAN

Pseudogenes.org Pseudogenes for MGAT4C Gene

genes like me logo Genes that share paralogs with MGAT4C: view

Variants for MGAT4C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MGAT4C Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs34663658 Benign: not provided 85,979,478(-) G/A
NM_013244.5(MGAT4C):c.1248C>T (p.Asn416=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs17855890 - p.Thr428Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MGAT4C 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 MGAT4C Gene

Variant ID Type Subtype PubMed ID
dgv1540n100 CNV loss 25217958
dgv193e201 CNV deletion 23290073
dgv2767n54 CNV loss 21841781
dgv2768n54 CNV gain 21841781
dgv2769n54 CNV loss 21841781
dgv2770n54 CNV gain 21841781
dgv301n67 CNV loss 20364138
dgv844n106 CNV deletion 24896259
dgv845n106 CNV deletion 24896259
dgv846n106 CNV deletion 24896259
dgv847n106 CNV deletion 24896259
esv1048546 CNV insertion 17803354
esv1455826 CNV deletion 17803354
esv1509471 CNV deletion 17803354
esv1653091 CNV insertion 17803354
esv2131445 CNV deletion 18987734
esv21585 CNV gain 19812545
esv2421908 CNV deletion 20811451
esv2471686 CNV deletion 19546169
esv2529439 CNV loss 19546169
esv25339 CNV loss 19812545
esv2539626 CNV deletion 19546169
esv2604566 CNV deletion 19546169
esv2625711 CNV loss 19546169
esv2657591 CNV deletion 23128226
esv2667990 CNV deletion 23128226
esv2670492 CNV deletion 23128226
esv2671336 CNV deletion 23128226
esv2676787 CNV deletion 23128226
esv27128 CNV gain+loss 19812545
esv2746154 CNV deletion 23290073
esv2746155 CNV deletion 23290073
esv2746156 CNV deletion 23290073
esv2746157 CNV deletion 23290073
esv2746158 CNV deletion 23290073
esv2746159 CNV deletion 23290073
esv2746160 CNV deletion 23290073
esv2746161 CNV deletion 23290073
esv2746162 CNV deletion 23290073
esv275003 CNV gain+loss 21479260
esv2761759 CNV loss 21179565
esv2865125 CNV insertion 24192839
esv3352601 CNV duplication 20981092
esv3364774 CNV insertion 20981092
esv3382972 CNV insertion 20981092
esv3395 CNV loss 18987735
esv3549522 CNV deletion 23714750
esv3549523 CNV deletion 23714750
esv3549525 CNV deletion 23714750
esv3549527 CNV deletion 23714750
esv3549533 CNV deletion 23714750
esv3549534 CNV deletion 23714750
esv3549535 CNV deletion 23714750
esv3549536 CNV deletion 23714750
esv3580367 CNV loss 25503493
esv3630255 CNV loss 21293372
esv3630256 CNV loss 21293372
esv3630257 CNV loss 21293372
esv3630258 CNV gain 21293372
esv3630259 CNV loss 21293372
esv3630262 CNV loss 21293372
esv3630263 CNV loss 21293372
esv3630265 CNV loss 21293372
esv3630267 CNV loss 21293372
esv3630268 CNV loss 21293372
esv3630269 CNV gain 21293372
esv3630271 CNV gain 21293372
esv3630272 CNV gain 21293372
esv3630273 CNV loss 21293372
esv3892239 CNV loss 25118596
esv3892241 CNV gain 25118596
esv5822 CNV loss 19470904
esv7837 CNV loss 19470904
esv988216 CNV insertion 20482838
esv994139 CNV insertion 20482838
esv997184 CNV insertion 20482838
nsv1049179 CNV gain 25217958
nsv1050699 CNV loss 25217958
nsv1053234 CNV gain 25217958
nsv1069685 CNV deletion 25765185
nsv1069686 CNV deletion 25765185
nsv1070538 CNV deletion 25765185
nsv1125348 OTHER inversion 24896259
nsv1145995 CNV insertion 26484159
nsv1160052 CNV deletion 26073780
nsv1160053 CNV duplication 26073780
nsv442652 CNV loss 18776908
nsv455681 CNV loss 19166990
nsv455682 CNV loss 19166990
nsv470311 CNV loss 18288195
nsv472162 CNV novel sequence insertion 20440878
nsv475258 CNV novel sequence insertion 20440878
nsv479031 CNV novel sequence insertion 20440878
nsv479603 CNV novel sequence insertion 20440878
nsv481394 CNV novel sequence insertion 20440878
nsv483111 CNV loss 15286789
nsv498801 CNV loss 21111241
nsv509473 CNV insertion 20534489
nsv510606 CNV deletion 20534489
nsv514678 CNV loss 21397061
nsv518059 CNV loss 19592680
nsv520577 CNV gain 19592680
nsv559667 CNV loss 21841781
nsv559668 CNV loss 21841781
nsv559669 CNV loss 21841781
nsv559670 CNV loss 21841781
nsv559673 CNV gain+loss 21841781
nsv559674 CNV loss 21841781
nsv559682 CNV loss 21841781
nsv559683 CNV loss 21841781
nsv559686 CNV loss 21841781
nsv559687 CNV loss 21841781
nsv559690 CNV loss 21841781
nsv559691 CNV loss 21841781
nsv559692 CNV loss 21841781
nsv559693 CNV loss 21841781
nsv559694 CNV loss 21841781
nsv7233 OTHER inversion 18451855
nsv797 CNV insertion 18451855
nsv798 CNV deletion 18451855
nsv800 CNV deletion 18451855
nsv801 CNV insertion 18451855
nsv802 CNV deletion 18451855
nsv803 CNV insertion 18451855
nsv804 CNV insertion 18451855
nsv819565 CNV loss 19587683
nsv820997 CNV deletion 20802225
nsv832476 CNV loss 17160897
nsv957261 CNV deletion 24416366
nsv957425 CNV deletion 24416366
nsv973098 CNV duplication 23825009
nsv983491 CNV deletion 23825009

Variation tolerance for MGAT4C Gene

Residual Variation Intolerance Score: 69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MGAT4C Gene

Human Gene Mutation Database (HGMD)
MGAT4C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MGAT4C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MGAT4C Gene

Disorders for MGAT4C Gene

MalaCards: The human disease database

(3) MalaCards diseases for MGAT4C Gene - From: COP

Disorder Aliases PubMed IDs
congenital muscular dystrophy-dystroglycanopathy type a11
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a11
glycogen storage disease iii
  • gsd3
orofacial cleft 1
  • ofc1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MGAT4C

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 MGAT4C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MGAT4C Gene

Publications for MGAT4C Gene

  1. Cloning and characterization of the human UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homologue (hGnT-IV-H) gene. (PMID: 10570912) Furukawa T … Horii A (Journal of human genetics 1999) 2 3 4 23
  2. 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
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

Products for MGAT4C Gene

Sources for MGAT4C Gene