This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related... See more...

Aliases for B3GALT4 Gene

Aliases for B3GALT4 Gene

  • Beta-1,3-Galactosyltransferase 4 2 3 4 5
  • Ganglioside Galactosyltransferase 2 3 4
  • UDP-Galactose:Beta-N-Acetyl-Galactosamine-Beta-1,3-Galactosyltransferase 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 4 2 3
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase 4 2 3
  • Beta-1,3-GalTase 4 3 4
  • Beta3Gal-T4 2 4
  • EC 2.4.1.62 4 51
  • B3Gal-T4 3 4
  • Gal-T2 3 4
  • GALT4 3 4
  • GalT4 2 4
  • Beta-3-Galactosyltransferase 4 3
  • BETA3GALT4 3
  • Beta3GalT4 4
  • B3GALT4 5
  • GALT2 3

External Ids for B3GALT4 Gene

Previous GeneCards Identifiers for B3GALT4 Gene

  • GC06U990168
  • GC06P033241
  • GC06P033237
  • GC06P033291
  • GC06P033252
  • GC06P033352
  • GC06P033244
  • GC06P032986

Summaries for B3GALT4 Gene

Entrez Gene Summary for B3GALT4 Gene

  • This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]

GeneCards Summary for B3GALT4 Gene

B3GALT4 (Beta-1,3-Galactosyltransferase 4) is a Protein Coding gene. Diseases associated with B3GALT4 include Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - ganglio series. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity and ganglioside galactosyltransferase activity. An important paralog of this gene is B3GALT9.

UniProtKB/Swiss-Prot Summary for B3GALT4 Gene

Gene Wiki entry for B3GALT4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B3GALT4 Gene

Genomics for B3GALT4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for B3GALT4 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
GH06J032965 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 29.4 -306.5 -306454 10.4 ZSCAN16 CHD2 ZBTB10 BCL11A MXD4 CEBPA NR2C1 MNT IKZF1 BRCA1 BRD2 HLA-DMA ENSG00000223837 NONHSAG045804.2 LEMD2 VPS52 RXRB ATF6B DAXX RING1
GH06J033270 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.7 -2.2 -2165 8.7 ZSCAN16 CHD2 SP1 ZBTB10 MXD4 CEBPA SIX5 NR2C1 MNT IKZF1 VPS52 RPS18 NONHSAG046700.2 piR-32331-006 BRD2 LEMD2 RXRB DAXX RING1 WDR46
GH06J033414 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.8 +140.8 140835 6.9 TBP ZBTB10 MXD4 SP1 FEZF1 SIX5 NR2C1 MNT IKZF1 SMAD5 SYNGAP1 CUTA lnc-DAXX-2 BRD2 LEMD2 DAXX VPS52 WDR46 RXRB HCG25
GH06J033743 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.6 +468.7 468676 5.2 ZBTB10 MXD4 FEZF1 CEBPA ZFP64 ZNF217 CTCF SIX4 BHLHE40 MCM3 IP6K3 LEMD2 DAXX BRD2 WDR46 UQCC2 B3GALT4 ITPR3 RPS18 VPS52
GH06J033576 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 +301.7 301709 4.5 CHD2 TBP SP1 MXD4 CEBPA NR2C1 MNT DEK IKZF1 SMAD5 BAK1 DAXX BRD2 LEMD2 WDR46 VPS52 B3GALT4 RGL2 RXRB HCG25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B3GALT4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B3GALT4

Top Transcription factor binding sites by QIAGEN in the B3GALT4 gene promoter:
  • AP-1
  • ER-alpha
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Olf-1
  • p53
  • TBP

Genomic Locations for B3GALT4 Gene

Latest Assembly
chr6:33,277,123-33,284,832
(GRCh38/hg38)
Size:
7,710 bases
Orientation:
Plus strand

Previous Assembly
chr6:33,244,900-33,246,602
(GRCh37/hg19 by Entrez Gene)
Size:
1,703 bases
Orientation:
Plus strand

chr6:33,244,917-33,252,609
(GRCh37/hg19 by Ensembl)
Size:
7,693 bases
Orientation:
Plus strand

Genomic View for B3GALT4 Gene

Genes around B3GALT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GALT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GALT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GALT4 Gene

Proteins for B3GALT4 Gene

  • Protein details for B3GALT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96024-B3GT4_HUMAN
    Recommended name:
    Beta-1,3-galactosyltransferase 4
    Protein Accession:
    O96024

    Protein attributes for B3GALT4 Gene

    Size:
    378 amino acids
    Molecular mass:
    41537 Da
    Quaternary structure:
    No Data Available

neXtProt entry for B3GALT4 Gene

Selected DME Specific Peptides for B3GALT4 Gene

O96024:
  • CVKLAGATHYPLDRCCYGKFLLTSH
  • MQEAWKLV
  • GEELLSLSLASL
  • NLTLKTL
  • PLLYLGRVHWRV
  • LPLEDVFVGVSARR

Post-translational modifications for B3GALT4 Gene

  • Glycosylation at Asn149
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GALT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for B3GALT4 Gene

Gene Families for B3GALT4 Gene

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

Protein Domains for B3GALT4 Gene

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

Suggested Antigen Peptide Sequences for B3GALT4 Gene

GenScript: Design optimal peptide antigens:
  • UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase (B3GT4_HUMAN)
  • cDNA, FLJ96735, Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase,polypeptide 4 (B3GALT4), mRNA (Q5STJ7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O96024

UniProtKB/Swiss-Prot:

B3GT4_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GALT4: view

Function for B3GALT4 Gene

Molecular function for B3GALT4 Gene

UniProtKB/Swiss-Prot Function:
Involved in GM1/GD1B/GA1 ganglioside biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GM2 (d18:1(4E)) + UDP-alpha-D-galactose = ganglioside GM1 (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:16773, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:71502, ChEBI:CHEBI:77709; EC=2.4.1.62; Evidence={ECO:0000269|PubMed:9582303};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GM2 + UDP-alpha-D-galactose = ganglioside GM1 + H(+) + UDP; Xref=Rhea:RHEA:48280, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:79218, ChEBI:CHEBI:82639; Evidence={ECO:0000250|UniProtKB:Q9Z0F0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GD2 (d18:1(4E)) + UDP-alpha-D-galactose = ganglioside GD1b (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:47568, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:78542, ChEBI:CHEBI:87785; Evidence={ECO:0000250|UniProtKB:O88178};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GA2 (d18:1(4E)) + UDP-alpha-D-galactose = ganglioside GA1 (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:41960, ChEBI:CHEBI:15378, ChEBI:CHEBI:27731, ChEBI:CHEBI:27938, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914; Evidence={ECO:0000250|UniProtKB:O88178};.
GENATLAS Biochemistry:
UDP galactose:beta-N-acetylglutamine beta-1,3-galactosyltransferase 4,widely expressed,involved in GM1/GD1 ganglioside synthesis

Enzyme Numbers (IUBMB) for B3GALT4 Gene

Phenotypes From GWAS Catalog for B3GALT4 Gene

Gene Ontology (GO) - Molecular Function for B3GALT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IBA 21873635
GO:0008376 acetylgalactosaminyltransferase activity IBA 21873635
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IDA 9582303
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B3GALT4: view
genes like me logo Genes that share phenotypes with B3GALT4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GALT4

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for B3GALT4 Gene

Localization for B3GALT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GALT4 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 B3GALT4 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for B3GALT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
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 B3GALT4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B3GALT4 Gene

Pathways & Interactions for B3GALT4 Gene

genes like me logo Genes that share pathways with B3GALT4: view

Pathways by source for B3GALT4 Gene

1 BioSystems pathway for B3GALT4 Gene

UniProtKB/Swiss-Prot O96024-B3GT4_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for B3GALT4 Gene

Gene Ontology (GO) - Biological Process for B3GALT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001574 ganglioside biosynthetic process IDA 9582303
GO:0006486 protein glycosylation IBA,IEA --
genes like me logo Genes that share ontologies with B3GALT4: view

No data available for SIGNOR curated interactions for B3GALT4 Gene

Drugs & Compounds for B3GALT4 Gene

(5) Drugs for B3GALT4 Gene - From: HMDB and Novoseek

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

(70) Additional Compounds for B3GALT4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ganglioside GM1 (18:1/12:0)
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2)-O-[O-b-D-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1)]-O-b-D-galactopyranosyl-(1)-b-D-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2->3)-O-[O-b-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1->4)]-O-b-D-galactopyranosyl-(1->4)-b-D-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2)-O-[O-beta-delta-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1)]-O-beta-delta-galactopyranosyl-(1)-beta-delta-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2->3)-O-[O-beta-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1->4)]-O-beta-delta-galactopyranosyl-(1->4)-beta-delta-glucopyranosyl]-ceramide
  • D-Galactosyl-1,3-beta-N-acetyl-D galactosaminyl-(N-acetylneuraminyl)-D-galactosyl-D-glucosyl-nacylsphingosine
Ganglioside GM1 (18:1/16:0)
  • (2S,4S,5R)-2-{[(2S,3R,4R,5S,6R)-2-{[(2R,3S,4R,6R)-4,5-dihydroxy-6-{[(2S,3R,4E)-3-hydroxy-2-[(1-hydroxyhexadecylidene)amino]octadec-4-en-1-yl]oxy}-2-(hydroxymethyl)oxan-3-yl]oxy}-3-hydroxy-5-{[(2S,3R,4R,5R,6R)-5-hydroxy-3-[(1-hydroxyethylidene)amino]-6-(hydroxymethyl)-4-{[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}oxan-2-yl]oxy}-6-(hydroxymethyl)oxan-4-yl]oxy}-4-hydroxy-5-[(1-hydroxyethylidene)amino]-6-[(1S,2S)-1,2,3-trihydroxypropyl]oxane-2-carboxylate
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2)-O-[O-b-D-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1)]-O-b-D-galactopyranosyl-(1)-b-D-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2->3)-O-[O-b-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1->4)]-O-b-D-galactopyranosyl-(1->4)-b-D-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2)-O-[O-beta-delta-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1)]-O-beta-delta-galactopyranosyl-(1)-beta-delta-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2->3)-O-[O-beta-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1->4)]-O-beta-delta-galactopyranosyl-(1->4)-beta-delta-glucopyranosyl]-ceramide
Ganglioside GM1 (18:1/18:0)
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2)-O-[O-b-D-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1)]-O-b-D-galactopyranosyl-(1)-b-D-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2->3)-O-[O-b-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1->4)]-O-b-D-galactopyranosyl-(1->4)-b-D-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2)-O-[O-beta-delta-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1)]-O-beta-delta-galactopyranosyl-(1)-beta-delta-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2->3)-O-[O-beta-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1->4)]-O-beta-delta-galactopyranosyl-(1->4)-beta-delta-glucopyranosyl]-ceramide
  • D-Galactosyl-1,3-beta-N-acetyl-D galactosaminyl-(N-acetylneuraminyl)-D-galactosyl-D-glucosyl-nacylsphingosine
Ganglioside GM1 (18:1/20:0)
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2)-O-[O-b-D-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1)]-O-b-D-galactopyranosyl-(1)-b-D-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2->3)-O-[O-b-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1->4)]-O-b-D-galactopyranosyl-(1->4)-b-D-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2)-O-[O-beta-delta-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1)]-O-beta-delta-galactopyranosyl-(1)-beta-delta-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2->3)-O-[O-beta-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1->4)]-O-beta-delta-galactopyranosyl-(1->4)-beta-delta-glucopyranosyl]-ceramide
  • D-Galactosyl-1,3-beta-N-acetyl-D galactosaminyl-(N-acetylneuraminyl)-D-galactosyl-D-glucosyl-nacylsphingosine
Ganglioside GM1 (18:1/22:0)
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2)-O-[O-b-D-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1)]-O-b-D-galactopyranosyl-(1)-b-D-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2->3)-O-[O-b-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1->4)]-O-b-D-galactopyranosyl-(1->4)-b-D-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2)-O-[O-beta-delta-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1)]-O-beta-delta-galactopyranosyl-(1)-beta-delta-glucopyranosyl]-ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2->3)-O-[O-beta-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1->4)]-O-beta-delta-galactopyranosyl-(1->4)-beta-delta-glucopyranosyl]-ceramide
  • D-Galactosyl-1,3-beta-N-acetyl-D galactosaminyl-(N-acetylneuraminyl)-D-galactosyl-D-glucosyl-nacylsphingosine
genes like me logo Genes that share compounds with B3GALT4: view

Transcripts for B3GALT4 Gene

mRNA/cDNA for B3GALT4 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 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 B3GALT4

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALT4 Gene

No ASD Table

Relevant External Links for B3GALT4 Gene

GeneLoc Exon Structure for
B3GALT4

Expression for B3GALT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for B3GALT4 Gene

mRNA differential expression in normal tissues according to GTEx for B3GALT4 Gene

This gene is overexpressed in Whole Blood (x5.5).

Protein differential expression in normal tissues from HIPED for B3GALT4 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for B3GALT4 Gene



Protein tissue co-expression partners for B3GALT4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B3GALT4

SOURCE GeneReport for Unigene cluster for B3GALT4 Gene:

Hs.534375

mRNA Expression by UniProt/SwissProt for B3GALT4 Gene:

O96024-B3GT4_HUMAN
Tissue specificity: Highly expressed in heart, skeletal muscle and pancreas and, to a lesser extent, in brain, placenta, kidney, liver and lung.

Evidence on tissue expression from TISSUES for B3GALT4 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with B3GALT4: 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 B3GALT4 Gene

Orthologs for B3GALT4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for B3GALT4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia B3GALT4 30 31
  • 99.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia B3GALT4 30 31
  • 83.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia B3GALT4 30 31
  • 83.29 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia B3galt4 30 17 31
  • 80.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia B3galt4 30
  • 79.58 (n)
Oppossum
(Monodelphis domestica)
Mammalia B3GALT4 31
  • 54 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia B3GALT4 31
  • 30 (a)
OneToOne
Chicken
(Gallus gallus)
Aves B3GALT4 31
  • 28 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 45 (a)
OneToMany
-- 31
  • 42 (a)
OneToMany
-- 31
  • 42 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia b3galt4 30
  • 49.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4552 30
Zebrafish
(Danio rerio)
Actinopterygii LOC101886595 30
  • 48.75 (n)
B3GALT4 31
  • 27 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os.25487 30
Corn
(Zea mays)
Liliopsida Zm.7097 30
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5482 30
Species where no ortholog for B3GALT4 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)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • 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 B3GALT4 Gene

ENSEMBL:
Gene Tree for B3GALT4 (if available)
TreeFam:
Gene Tree for B3GALT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B3GALT4: view image

Paralogs for B3GALT4 Gene

(1) SIMAP similar genes for B3GALT4 Gene using alignment to 2 proteins:

  • B3GT4_HUMAN
  • Q5STJ7_HUMAN
genes like me logo Genes that share paralogs with B3GALT4: view

Variants for B3GALT4 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for B3GALT4 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 B3GALT4 Gene

Variant ID Type Subtype PubMed ID
dgv10609n54 CNV loss 21841781
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv5249 CNV deletion 18451855
nsv830634 CNV loss 17160897
nsv830635 CNV loss 17160897
nsv970109 CNV duplication 23825009

Variation tolerance for B3GALT4 Gene

Residual Variation Intolerance Score: 15.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B3GALT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GALT4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B3GALT4 Gene

Disorders for B3GALT4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for B3GALT4 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for B3GALT4

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 B3GALT4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for B3GALT4 Gene

Publications for B3GALT4 Gene

  1. A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family. (PMID: 9582303) Amado M … Clausen H (The Journal of biological chemistry 1998) 2 3 4 23
  2. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 41
  3. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. (PMID: 18193043) Willer CJ … Abecasis GR (Nature genetics 2008) 3 41
  4. 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
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

Products for B3GALT4 Gene

  • Biorbyt antibodies for B3GALT4

Sources for B3GALT4 Gene