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Aliases for B3GAT3 Gene

Aliases for B3GAT3 Gene

  • Beta-1,3-Glucuronyltransferase 3 2 3 4 5
  • Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 3 2 3
  • Beta-1,3-Glucuronyltransferase 3 (Glucuronosyltransferase I) 2 3
  • UDP-GlcUA:Gal Beta-1,3-Gal-R Glucuronyltransferase 3 4
  • Glucuronosyltransferase I 2 4
  • EC 2.4.1.135 4 56
  • GlcUAT-I 3 4
  • Sqv-8-Like Protein 3
  • GlcAT-I 4
  • GLCATI 3
  • JDSCD 3

External Ids for B3GAT3 Gene

Previous GeneCards Identifiers for B3GAT3 Gene

  • GC11M064895
  • GC11M063958
  • GC11M062158
  • GC11M062139
  • GC11M062429
  • GC11M058711

Summaries for B3GAT3 Gene

Entrez Gene Summary for B3GAT3 Gene

  • The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]

GeneCards Summary for B3GAT3 Gene

B3GAT3 (Beta-1,3-Glucuronyltransferase 3) is a Protein Coding gene. Diseases associated with B3GAT3 include Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include glucuronosyltransferase activity and galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. An important paralog of this gene is B3GAT1.

UniProtKB/Swiss-Prot for B3GAT3 Gene

  • Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).

Gene Wiki entry for B3GAT3 Gene

Additional gene information for B3GAT3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GAT3 Gene

Genomics for B3GAT3 Gene

GeneHancer (GH) Regulatory Elements for B3GAT3 Gene

Promoters and enhancers for B3GAT3 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
GH11I062620 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.3 318 3.3 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B B3GAT3 NXF1 BSCL2 CSKMT GANAB INTS5 EML3 MTA2 STX5 LOC105369332
GH11I062669 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17 -49.3 -49314 4.2 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 GC11M062588 LBHD1 UQCC3 EML3 LOC105369332 GANAB STX5 MTA2 NXF1 UBXN1
GH11I062651 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.2 -30.7 -30679 2.3 MLX DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC ZC3H11A SSRP1 INTS5 EML3 CSKMT MTA2 NXF1 SNHG1 STX5 GANAB LOC105369332 TAF6L
GH11I062537 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.3 +78.3 78262 11.9 HDGF CLOCK FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A AHNAK EML3 NXF1 TAF6L TUT1 STX5 WDR74 B3GAT3 SLC3A2 UBXN1
GH11I062712 Enhancer 0.9 ENCODE dbSUPER 11.1 -91.8 -91751 3.5 FOXA2 MAX RAD21 YY1 FOSL1 ZNF316 CBFA2T2 ZNF600 NFE2 RXRA PIR38618 TTC9C UBXN1 LBHD1 LRRN4CL POLR2G GANAB B3GAT3 UQCC3 ROM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B3GAT3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B3GAT3 gene promoter:

Genomic Locations for B3GAT3 Gene

Genomic Locations for B3GAT3 Gene
chr11:62,615,296-62,622,175
(GRCh38/hg38)
Size:
6,880 bases
Orientation:
Minus strand
chr11:62,382,768-62,389,647
(GRCh37/hg19)

Genomic View for B3GAT3 Gene

Genes around B3GAT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GAT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GAT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GAT3 Gene

Proteins for B3GAT3 Gene

  • Protein details for B3GAT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94766-B3GA3_HUMAN
    Recommended name:
    Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
    Protein Accession:
    O94766
    Secondary Accessions:
    • B7ZAB3
    • Q96I06
    • Q9UEP0

    Protein attributes for B3GAT3 Gene

    Size:
    335 amino acids
    Molecular mass:
    37122 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with PXYLP1; the interaction increases the 2-phosphoxylose phosphatase activity of PXYLP1 during completion of linkage region formation in a B3GAT3-mediated manner.

    Three dimensional structures from OCA and Proteopedia for B3GAT3 Gene

    Alternative splice isoforms for B3GAT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B3GAT3 Gene

Selected DME Specific Peptides for B3GAT3 Gene

O94766:
  • PRGVEQRN
  • VWPVGLVGG
  • ELFEEMR
  • VWHTRTEK

Post-translational modifications for B3GAT3 Gene

Other Protein References for B3GAT3 Gene

Domains & Families for B3GAT3 Gene

Gene Families for B3GAT3 Gene

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

Protein Domains for B3GAT3 Gene

Graphical View of Domain Structure for InterPro Entry

O94766

UniProtKB/Swiss-Prot:

B3GA3_HUMAN :
  • Belongs to the glycosyltransferase 43 family.
Family:
  • Belongs to the glycosyltransferase 43 family.
genes like me logo Genes that share domains with B3GAT3: view

Function for B3GAT3 Gene

Molecular function for B3GAT3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucuronate + [protein]-3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-serine = UDP + [protein]-3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by EDTA.
UniProtKB/Swiss-Prot Function:
Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).

Enzyme Numbers (IUBMB) for B3GAT3 Gene

Phenotypes From GWAS Catalog for B3GAT3 Gene

Gene Ontology (GO) - Molecular Function for B3GAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24425863
GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity IEA,TAS --
GO:0015020 glucuronosyltransferase activity IMP 21763480
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with B3GAT3: view
genes like me logo Genes that share phenotypes with B3GAT3: view

Human Phenotype Ontology for B3GAT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for B3GAT3 Gene

MGI Knock Outs for B3GAT3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for B3GAT3 Gene

Localization for B3GAT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GAT3 Gene

Golgi apparatus membrane; Single-pass type II membrane protein. Golgi apparatus, cis-Golgi network.

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 B3GAT3 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for B3GAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA,IDA 21763480
GO:0005801 cis-Golgi network IDA 21763480
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane NAS,IEA 10842173
genes like me logo Genes that share ontologies with B3GAT3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B3GAT3 Gene

Pathways & Interactions for B3GAT3 Gene

genes like me logo Genes that share pathways with B3GAT3: view

UniProtKB/Swiss-Prot O94766-B3GA3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B3GAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IBA --
GO:0006024 glycosaminoglycan biosynthetic process NAS 10842173
GO:0006486 protein glycosylation IEA --
GO:0015012 heparan sulfate proteoglycan biosynthetic process IMP,IDA 25893793
GO:0030203 glycosaminoglycan metabolic process TAS --
genes like me logo Genes that share ontologies with B3GAT3: view

No data available for SIGNOR curated interactions for B3GAT3 Gene

Drugs & Compounds for B3GAT3 Gene

(6) Drugs for B3GAT3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
UDP-alpha-D-glucuronic acid Experimental Pharma Target 0
Uridine-5'-Diphosphate Experimental Pharma Target 0
Chondroitin Nutra 48

(7) Additional Compounds for B3GAT3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
heparan sulfate
  • alpha-Idosane
  • Heparan N-sulfate
  • Heparan N-sulphate
  • Heparan sulfate
  • Heparan sulphate
9050-30-0
genes like me logo Genes that share compounds with B3GAT3: view

Transcripts for B3GAT3 Gene

Unigene Clusters for B3GAT3 Gene

Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GAT3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7
SP1:
SP2:
SP3: -
SP4:
SP5: -
SP6: - -
SP7: - - -

Relevant External Links for B3GAT3 Gene

GeneLoc Exon Structure for
B3GAT3
ECgene alternative splicing isoforms for
B3GAT3

Expression for B3GAT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B3GAT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B3GAT3 Gene

This gene is overexpressed in Nasal epithelium (57.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for B3GAT3 Gene



Protein tissue co-expression partners for B3GAT3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of B3GAT3 Gene:

B3GAT3

SOURCE GeneReport for Unigene cluster for B3GAT3 Gene:

Hs.502759

mRNA Expression by UniProt/SwissProt for B3GAT3 Gene:

O94766-B3GA3_HUMAN
Tissue specificity: Ubiquitous (but weakly expressed in all tissues examined).

Evidence on tissue expression from TISSUES for B3GAT3 Gene

  • Nervous system(4.7)
  • Eye(4.3)
  • Liver(4.2)
  • Skin(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GAT3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • 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
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with B3GAT3: view

No data available for mRNA differential expression in normal tissues for B3GAT3 Gene

Orthologs for B3GAT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GAT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GAT3P1 34
  • 100 (a)
OneToOne
B3GAT3 33
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia B3GAT3 33 34
  • 91.84 (n)
cow
(Bos Taurus)
Mammalia B3GAT3 33 34
  • 91.54 (n)
rat
(Rattus norvegicus)
Mammalia B3gat3 33
  • 88.46 (n)
mouse
(Mus musculus)
Mammalia B3gat3 33 16 34
  • 88.16 (n)
oppossum
(Monodelphis domestica)
Mammalia B3GAT3 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GAT3 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 44 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia B3GAT3 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gat3 33
  • 59.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia b3gat3 33
zebrafish
(Danio rerio)
Actinopterygii b3gat3 33 34
  • 63.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta GlcAT-I 33 34
  • 55.56 (n)
BcDNA:GH05057 35
  • 44 (a)
EG:EG0007.5 35
  • 43 (a)
CG3881 35
  • 41 (a)
GlcAT-S 34
  • 25 (a)
ManyToMany
GlcAT-P 34
  • 23 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002801 33
  • 53.46 (n)
worm
(Caenorhabditis elegans)
Secernentea sqv-8 35 33 34
  • 51.77 (n)
C54C8.5 35
  • 38 (a)
E03H4.12 35
  • 37 (a)
glct-1 34
  • 37 (a)
ManyToMany
glct-4 34
  • 35 (a)
ManyToMany
glct-3 34
  • 34 (a)
ManyToMany
glct-5 34
  • 34 (a)
ManyToMany
glct-6 34
  • 34 (a)
ManyToMany
glct-2 34
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7425 34
  • 44 (a)
ManyToMany
CSA.7080 34
  • 40 (a)
ManyToMany
CSA.7081 34
  • 38 (a)
ManyToMany
Species where no ortholog for B3GAT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 B3GAT3 Gene

ENSEMBL:
Gene Tree for B3GAT3 (if available)
TreeFam:
Gene Tree for B3GAT3 (if available)

Paralogs for B3GAT3 Gene

Paralogs for B3GAT3 Gene

(4) SIMAP similar genes for B3GAT3 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for B3GAT3 Gene

genes like me logo Genes that share paralogs with B3GAT3: view

Variants for B3GAT3 Gene

Sequence variations from dbSNP and Humsavar for B3GAT3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1054496079 uncertain-significance, Retinitis Pigmentosa, Dominant 62,615,018(-) A/C downstream_transcript_variant
rs147684283 uncertain-significance, Retinitis Pigmentosa, Dominant 62,615,094(-) C/T downstream_transcript_variant
rs202210450 uncertain-significance, Retinitis Pigmentosa, Dominant 62,614,853(-) G/A/C downstream_transcript_variant
rs372487178 pathogenic, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS, Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] 62,616,748(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs387906937 likely-pathogenic, pathogenic, Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS, Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] 62,616,585(-) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for B3GAT3 Gene

Variant ID Type Subtype PubMed ID
esv3584599 CNV gain 24956385
nsv555174 CNV gain 21841781
nsv825939 CNV gain 20364138
nsv832182 CNV gain+loss 17160897

Variation tolerance for B3GAT3 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B3GAT3 Gene

Human Gene Mutation Database (HGMD)
B3GAT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GAT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GAT3 Gene

Disorders for B3GAT3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for B3GAT3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

B3GA3_HUMAN
  • Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600]: An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. {ECO:0000269 PubMed:21763480, ECO:0000269 PubMed:24668659, ECO:0000269 PubMed:25893793, ECO:0000269 PubMed:26086840}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for B3GAT3

genes like me logo Genes that share disorders with B3GAT3: view

No data available for Genatlas for B3GAT3 Gene

Publications for B3GAT3 Gene

  1. Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues. (PMID: 10842173) Ouzzine M … Fournel-Gigleux S (The Journal of biological chemistry 2000) 3 4 22 58
  2. Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I. (PMID: 10946001) Pedersen LC … Negishi M (The Journal of biological chemistry 2000) 3 4 22 58
  3. Characterization of recombinant human glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 10526176) Tone Y … Sugahara K (FEBS letters 1999) 3 4 22 58
  4. Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 9506957) Kitagawa H … Sugahara K (The Journal of biological chemistry 1998) 2 3 4 58
  5. Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. (PMID: 25893793) Budde BS … Kennerknecht I (Human genetics 2015) 3 4 58

Products for B3GAT3 Gene

Sources for B3GAT3 Gene

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