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Aliases for B4GALT7 Gene

Aliases for B4GALT7 Gene

  • Beta-1,4-Galactosyltransferase 7 2 3 3 5
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 7 3 4
  • Xylosylprotein Beta 1,4-Galactosyltransferase, Polypeptide 7 2 3
  • UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 7 3 4
  • Galactosyltransferase I 2 3
  • Beta-1,4-GalTase 7 3 4
  • Beta4Gal-T7 3 4
  • XGALT1 3 4
  • Proteoglycan UDP-Galactose:Beta-Xylose Beta1,4-Galactosyltransferase I 3
  • Beta-1,4-Galactosyltransferase VII 3
  • Beta4GalT-VII 3
  • EC 2.4.1.- 4
  • B4Gal-T7 4
  • EDSSPD1 3
  • EDSSLA 3
  • EDSP1 3
  • XGPT1 3

External Ids for B4GALT7 Gene

Previous GeneCards Identifiers for B4GALT7 Gene

  • GC05P177400
  • GC05P177868
  • GC05P177095
  • GC05P177140
  • GC05P176959
  • GC05P171950
  • GC05P177027

Summaries for B4GALT7 Gene

Entrez Gene Summary for B4GALT7 Gene

  • This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]

GeneCards Summary for B4GALT7 Gene

B4GALT7 (Beta-1,4-Galactosyltransferase 7) is a Protein Coding gene. Diseases associated with B4GALT7 include Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 and Spondylodysplastic Ehlers-Danlos Syndrome. Among its related pathways are heparan sulfate biosynthesis and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and galactosyltransferase activity. An important paralog of this gene is B4GALT5.

UniProtKB/Swiss-Prot for B4GALT7 Gene

  • Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.

Gene Wiki entry for B4GALT7 Gene

Additional gene information for B4GALT7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALT7 Gene

Genomics for B4GALT7 Gene

GeneHancer (GH) Regulatory Elements for B4GALT7 Gene

Promoters and enhancers for B4GALT7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J177599 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 679.1 +0.1 130 2.2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 B4GALT7 DDX41 TMED9 ENSG00000247679
GH05J177425 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -170.7 -170728 8.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 GRK6 NSD1 FAF2 UIMC1 DOK3 ENSG00000247679 LOC202181 ZNF346-IT1 PFN3 FAM193B
GH05J177515 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.4 -83.0 -82979 3 CLOCK DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC GLIS1 DDX41 LOC202181 B4GALT7 HNRNPAB NSD1 DOK3 FAM153A
GH05J178203 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.2 +609.6 609644 12.3 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 HNRNPAB ENSG00000247679 FAM193B ZNF879 LOC202181 ZNF354C CLK4 RMND5B ENSG00000254035 MXD3
GH05J177552 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.1 -45.9 -45916 3.2 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 E2F8 ZNF143 SP3 LOC105377750 GC05P177553 FAM193B DOK3 DDX41 TMED9 B4GALT7 FAM153A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B4GALT7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B4GALT7 gene promoter:
  • ER-alpha
  • Pax-4a
  • ARP-1
  • E47
  • AML1a
  • Max1
  • CP2
  • c-Myc
  • NF-kappaB1

Genomic Locations for B4GALT7 Gene

Genomic Locations for B4GALT7 Gene
10,248 bases
Plus strand
10,248 bases
Plus strand

Genomic View for B4GALT7 Gene

Genes around B4GALT7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALT7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B4GALT7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALT7 Gene

Proteins for B4GALT7 Gene

  • Protein details for B4GALT7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-1,4-galactosyltransferase 7
    Protein Accession:
    Secondary Accessions:
    • B3KN39
    • Q9UHN2

    Protein attributes for B4GALT7 Gene

    327 amino acids
    Molecular mass:
    37406 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for B4GALT7 Gene

neXtProt entry for B4GALT7 Gene

Post-translational modifications for B4GALT7 Gene

  • Glycosylation at Asn154
  • Modification sites at PhosphoSitePlus

Other Protein References for B4GALT7 Gene

No data available for DME Specific Peptides for B4GALT7 Gene

Domains & Families for B4GALT7 Gene

Gene Families for B4GALT7 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for B4GALT7 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 7 family.
  • Belongs to the glycosyltransferase 7 family.
genes like me logo Genes that share domains with B4GALT7: view

Function for B4GALT7 Gene

Molecular function for B4GALT7 Gene

UniProtKB/Swiss-Prot Function:
Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + O-beta-D-xylosyl-[protein] = UDP + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein].
GENATLAS Biochemistry:

Enzyme Numbers (IUBMB) for B4GALT7 Gene

Phenotypes From GWAS Catalog for B4GALT7 Gene

Gene Ontology (GO) - Molecular Function for B4GALT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IDA 24052259
GO:0005515 protein binding IPI 25416956
GO:0008378 galactosyltransferase activity IMP 16583246
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B4GALT7: view
genes like me logo Genes that share phenotypes with B4GALT7: view

Human Phenotype Ontology for B4GALT7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for B4GALT7 Gene

miRTarBase miRNAs that target B4GALT7

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for B4GALT7 Gene

Localization for B4GALT7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALT7 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Cis cisternae of Golgi stack.

Subcellular locations from

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 B4GALT7 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for B4GALT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA,IDA 10506123
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 10438455
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with B4GALT7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALT7 Gene

Pathways & Interactions for B4GALT7 Gene

genes like me logo Genes that share pathways with B4GALT7: view

UniProtKB/Swiss-Prot Q9UBV7-B4GT7_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B4GALT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006024 glycosaminoglycan biosynthetic process IDA 10438455
GO:0006029 proteoglycan metabolic process IMP 16583246
GO:0006464 cellular protein modification process TAS 10473568
GO:0006486 protein glycosylation IEA --
genes like me logo Genes that share ontologies with B4GALT7: view

No data available for SIGNOR curated interactions for B4GALT7 Gene

Drugs & Compounds for B4GALT7 Gene

(4) Drugs for B4GALT7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0

(1) Additional Compounds for B4GALT7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with B4GALT7: view

Transcripts for B4GALT7 Gene

mRNA/cDNA for B4GALT7 Gene

Unigene Clusters for B4GALT7 Gene

Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT7 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6: -

Relevant External Links for B4GALT7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for B4GALT7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B4GALT7 Gene

Protein differential expression in normal tissues from HIPED for B4GALT7 Gene

This gene is overexpressed in Cervix (36.9), Adrenal (15.5), and Lung (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B4GALT7 Gene

NURSA nuclear receptor signaling pathways regulating expression of B4GALT7 Gene:


SOURCE GeneReport for Unigene cluster for B4GALT7 Gene:


mRNA Expression by UniProt/SwissProt for B4GALT7 Gene:

Tissue specificity: High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.

Evidence on tissue expression from TISSUES for B4GALT7 Gene

  • Skin(4.3)
  • Pancreas(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALT7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • pelvis
  • testicle
  • 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
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with B4GALT7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for B4GALT7 Gene

Orthologs for B4GALT7 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALT7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia B4GALT7 34 33
  • 99.29 (n)
(Bos Taurus)
Mammalia B4GALT7 34
  • 93 (a)
(Canis familiaris)
Mammalia B4GALT7 34 33
  • 90.86 (n)
(Mus musculus)
Mammalia B4galt7 16 34 33
  • 88.55 (n)
(Rattus norvegicus)
Mammalia B4galt7 33
  • 88.55 (n)
(Monodelphis domestica)
Mammalia B4GALT7 34
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia B4GALT7 34
  • 78 (a)
(Gallus gallus)
Aves B4GAL-T7 34
  • 86 (a)
B4GALT7 33
  • 77.67 (n)
(Anolis carolinensis)
Reptilia B4GALT7 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galt7 33
  • 65.73 (n)
(Danio rerio)
Actinopterygii b4galt7 34 33
  • 65.3 (n)
Dr.17702 33
fruit fly
(Drosophila melanogaster)
Insecta beta4GalT7 34 33
  • 60.28 (n)
&bgr;4GalT7 35
  • 52 (a)
(Caenorhabditis elegans)
Secernentea sqv-3 34 35 33
  • 50.07 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
Species where no ortholog for B4GALT7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 B4GALT7 Gene

Gene Tree for B4GALT7 (if available)
Gene Tree for B4GALT7 (if available)
Evolutionary constrained regions (ECRs) for B4GALT7: view image

Paralogs for B4GALT7 Gene

Paralogs for B4GALT7 Gene

genes like me logo Genes that share paralogs with B4GALT7: view

Variants for B4GALT7 Gene

Sequence variations from dbSNP and Humsavar for B4GALT7 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs121917817 pathogenic, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA) [MIM:130070] 177,607,445(+) C/A coding_sequence_variant, missense_variant
rs121917818 pathogenic, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA) [MIM:130070] 177,607,505(+) T/C coding_sequence_variant, missense_variant
rs142476892 uncertain-significance, not provided, not specified 177,604,405(+) C/G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs187063864 pathogenic, likely-pathogenic, Ehlers-Danlos syndrome progeroid type, not provided 177,607,309(+) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs200503833 likely-pathogenic, Ehlers-Danlos syndrome progeroid type 177,600,248(+) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for B4GALT7 Gene

Variant ID Type Subtype PubMed ID
nsv5149 CNV insertion 18451855

Variation tolerance for B4GALT7 Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.42; 27.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B4GALT7 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT7 Gene

Disorders for B4GALT7 Gene

MalaCards: The human disease database

(8) MalaCards diseases for B4GALT7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA) [MIM:130070]: A variant form of Ehlers-Danlos syndrome characterized by short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits, developmental anomalies of the forearm bones and elbow, and bowing of extremities. {ECO:0000269 PubMed:10506123}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for B4GALT7

genes like me logo Genes that share disorders with B4GALT7: view

No data available for Genatlas for B4GALT7 Gene

Publications for B4GALT7 Gene

  1. Crystal structures of β-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding. (PMID: 24052259) Tsutsui Y … Qasba PK (The Journal of biological chemistry 2013) 2 3 4 58
  2. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. (PMID: 15211654) Faiyaz-Ul-Haque M … Teebi AS (American journal of medical genetics. Part A 2004) 2 3 22 58
  3. Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 10438455) Okajima T … Furukawa K (The Journal of biological chemistry 1999) 2 3 4 58
  4. Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family. (PMID: 10473568) Almeida R … Clausen H (The Journal of biological chemistry 1999) 2 3 4 58
  5. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. (PMID: 10506123) Okajima T … Urano T (The Journal of biological chemistry 1999) 3 4 22 58

Products for B4GALT7 Gene

Sources for B4GALT7 Gene

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