B3GNT4 Gene (Protein Coding)

UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 4

GC12P122203
GIFtS:
34
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008] See more...

Aliases for B3GNT4 Gene

Aliases for B3GNT4 Gene

  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 4 2 3 4 5
  • Beta3Gn-T4 2 3 4
  • N-Acetyllactosaminide Beta-1,3-N-Acetylglucosaminyltransferase 4 3 4
  • Beta-1,3-N-Acetylglucosaminyltransferase 4 3 4
  • Beta-1,3-Gn-T4 3 4
  • B3GN-T4 2 3
  • BGnT-4 3 4
  • Beta-1,3-N-Acetylglucosaminyltransferase BGn-T4 3
  • EC 2.4.1.149 4
  • B3GNT4 5

External Ids for B3GNT4 Gene

Previous GeneCards Identifiers for B3GNT4 Gene

  • GC12M121471
  • GC12M122667
  • GC12P122496
  • GC12P121125
  • GC12P121212
  • GC12P122689
  • GC12P119649

Summaries for B3GNT4 Gene

Entrez Gene Summary for B3GNT4 Gene

  • This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for B3GNT4 Gene

B3GNT4 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 4) is a Protein Coding gene. Diseases associated with B3GNT4 include Dowling-Degos Disease. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is B3GNT7.

UniProtKB/Swiss-Prot Summary for B3GNT4 Gene

  • Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides.

Additional gene information for B3GNT4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B3GNT4 Gene

Genomics for B3GNT4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for B3GNT4 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 B3GNT4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B3GNT4

Top Transcription factor binding sites by QIAGEN in the B3GNT4 gene promoter:
  • ATF-2
  • Brachyury
  • c-Jun
  • Meis-1
  • Meis-1a
  • Meis-1b
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3

Genomic Locations for B3GNT4 Gene

Latest Assembly
chr12:122,203,681-122,208,952
(GRCh38/hg38)
Size:
5,272 bases
Orientation:
Plus strand

Previous Assembly
chr12:122,688,256-122,693,499
(GRCh37/hg19 by Entrez Gene)
Size:
5,244 bases
Orientation:
Plus strand

chr12:122,688,090-122,693,499
(GRCh37/hg19 by Ensembl)
Size:
5,410 bases
Orientation:
Plus strand

Genomic View for B3GNT4 Gene

Genes around B3GNT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GNT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GNT4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for B3GNT4 Gene

Proteins for B3GNT4 Gene

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  • Protein details for B3GNT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0J1-B3GN4_HUMAN
    Recommended name:
    N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4
    Protein Accession:
    Q9C0J1
    Secondary Accessions:
    • Q8N5W4
    • Q8N934
    • Q8ND21
    • Q8WWR5
    • Q8WY02
    • Q96QH5

    Protein attributes for B3GNT4 Gene

    Size:
    378 amino acids
    Molecular mass:
    42310 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL37219.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for B3GNT4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B3GNT4 Gene

Post-translational modifications for B3GNT4 Gene

  • Glycosylation at Asn192
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GNT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for B3GNT4 Gene

Domains & Families for B3GNT4 Gene

Gene Families for B3GNT4 Gene

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

Protein Domains for B3GNT4 Gene

InterPro:
Blocks:
  • Glycosyl transferase, family 31
ProtoNet:

Suggested Antigen Peptide Sequences for B3GNT4 Gene

GenScript: Design optimal peptide antigens:
  • UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GN4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9C0J1

UniProtKB/Swiss-Prot:

B3GN4_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GNT4: view

Function for B3GNT4 Gene

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  6. Cell Lines for research

Molecular function for B3GNT4 Gene

UniProtKB/Swiss-Prot Function:
Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-alpha-D-glucosamine = an N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP; Xref=Rhea:RHEA:14389, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:133507, ChEBI:CHEBI:134090; EC=2.4.1.149; Evidence={ECO:0000269|PubMed:11042166};.

Enzyme Numbers (IUBMB) for B3GNT4 Gene

Phenotypes From GWAS Catalog for B3GNT4 Gene

Gene Ontology (GO) - Molecular Function for B3GNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IBA 21873635
GO:0008376 acetylgalactosaminyltransferase activity IBA 21873635
GO:0008457 beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity IEA --
GO:0008532 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IEA,IDA 11042166
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with B3GNT4: view
genes like me logo Genes that share phenotypes with B3GNT4: view

Animal Models for research

miRNA for B3GNT4 Gene

miRTarBase miRNAs that target B3GNT4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GNT4

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for B3GNT4 Gene

Localization for B3GNT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GNT4 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 B3GNT4 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
plasma membrane 0
extracellular 0
peroxisome 0
nucleus 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for B3GNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GNT4: view

Pathways & Interactions for B3GNT4 Gene

genes like me logo Genes that share pathways with B3GNT4: view

UniProtKB/Swiss-Prot Q9C0J1-B3GN4_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for B3GNT4 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000319636 Q9C0J1-B3GN4_HUMAN for B3GNT4 Gene via STRING IID

GPS-Prot Interaction Network for B3GNT4

Gene Ontology (GO) - Biological Process for B3GNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IBA 21873635
GO:0016266 O-glycan processing TAS --
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0030311 poly-N-acetyllactosamine biosynthetic process IDA 11042166
genes like me logo Genes that share ontologies with B3GNT4: view

No data available for SIGNOR curated interactions for B3GNT4 Gene

Drugs & Compounds for B3GNT4 Gene

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No Compound Related Data Available

Transcripts for B3GNT4 Gene

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mRNA/cDNA for B3GNT4 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 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 B3GNT4

Alternative Splicing Database (ASD) splice patterns (SP) for B3GNT4 Gene

No ASD Table

Relevant External Links for B3GNT4 Gene

GeneLoc Exon Structure for
B3GNT4

Expression for B3GNT4 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for B3GNT4 Gene

mRNA expression in normal human tissues for B3GNT4 Gene
mRNA expression by BioGPS for B3GNT4 GenemRNA expression by GTEx for B3GNT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B3GNT4 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.6), Brain - Cortex (x5.5), and Brain - Hippocampus (x4.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B3GNT4

SOURCE GeneReport for Unigene cluster for B3GNT4 Gene:

Hs.363315

mRNA Expression by UniProt/SwissProt for B3GNT4 Gene:

Q9C0J1-B3GN4_HUMAN
Tissue specificity: Mainly expressed in brain tissues such as whole brain, hippocampus, amygdala, cerebellum and caudate nucleus. Also expressed in colon, esophagus and kidney.

Evidence on tissue expression from TISSUES for B3GNT4 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with B3GNT4: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GNT4 Gene

Orthologs for B3GNT4 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GNT4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia B3GNT4 30 31
  • 98.77 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia B3GNT4 30 31
  • 86.17 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia B3GNT4 30 31
  • 85.32 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia B3gnt4 30
  • 82.71 (n)
Mouse
(Mus musculus)
 Mammalia B3gnt4 30 17 31
  • 80.98 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia B3GNT4 31
  • 69 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia B3GNT4 31
  • 66 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves B3GNT4 30 31
  • 65.63 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia B3GNT4 31
  • 54 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia b3gnt4 30
  • 61.66 (n)
Str.20273 30
Zebrafish
(Danio rerio)
 Actinopterygii b3gnt7l 31
  • 33 (a)
 ManyToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta CG30036 30
  • 45.93 (n)
Species where no ortholog for B3GNT4 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for B3GNT4 Gene

ENSEMBL:
Gene Tree for B3GNT4 (if available)
TreeFam:
Gene Tree for B3GNT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B3GNT4: view image

Paralogs for B3GNT4 Gene

Paralogs for B3GNT4 Gene

(8) SIMAP similar genes for B3GNT4 Gene using alignment to 1 proteins:

  • B3GN4_HUMAN
genes like me logo Genes that share paralogs with B3GNT4: view

Variants for B3GNT4 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B3GNT4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
929895 Uncertain Significance: not specified 122,208,465(+) CTG/C
NM_001371333.1(DIABLO):c.634_635del (p.Gln212fs) 		FRAMESHIFT_VARIANT,THREE_PRIME_UTR
rs1057519151 Uncertain Significance: not provided 122,208,388(+) TCACGCAGGTAG/T
NM_030765.4(B3GNT4):c.*1001_*1011del 		FRAMESHIFT_VARIANT,THREE_PRIME_UTR
rs1223091168 Likely Benign: not specified 122,208,441(+) T/C
NM_030765.4(B3GNT4):c.*1053T>C 		SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs149387774 Benign/Likely Benign: not specified; not provided 122,208,555(+) G/A
NM_030765.4(B3GNT4):c.*1167G>A 		SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs150199226 Benign/Likely Benign: not specified; not provided 122,208,431(+) C/T
NM_030765.4(B3GNT4):c.*1043C>T 		MISSENSE_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for B3GNT4 Gene

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

Variation tolerance for B3GNT4 Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.32; 90.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B3GNT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GNT4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for B3GNT4 Gene

Disorders for B3GNT4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for B3GNT4 Gene - From: COP

Disorder Aliases PubMed IDs
dowling-degos disease
  • dark dot disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for B3GNT4

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 B3GNT4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for B3GNT4 Gene

Publications for B3GNT4 Gene

  1. Identification and characterization of three novel beta 1,3-N-acetylglucosaminyltransferases structurally related to the beta 1,3-galactosyltransferase family. (PMID: 11042166) Shiraishi N … Sasaki K (The Journal of biological chemistry 2001) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  4. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PMID: 10580128) Amado M … Clausen H (Biochimica et biophysica acta 1999) 3 4
  5. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (PMID: 23263486) Köttgen A … Gieger C (Nature genetics 2013) 3

ExternalLinks

View latest publications for B3GNT4 gene in Mastermind

Products for B3GNT4 Gene

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