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 linka... See more...

Aliases for B3GAT3 Gene

Aliases for B3GAT3 Gene

  • Beta-1,3-Glucuronyltransferase 3 2 3 4 5
  • Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 3 2 3 4
  • 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 54
  • 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 and Retinitis Pigmentosa. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Glycosaminoglycan 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 Summary 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 , Rfam classification 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
GH11J062620 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.3 319 3.3 E2F8 SIN3A SP1 ZBTB40 SREBF1 MLX RBPJ POLR2A USF2 ATF1 B3GAT3 SNHG1 BSCL2 CSKMT NXF1 MTA2 GANAB EML3 INTS5 STX5
GH11J062669 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 17 -49.3 -49314 4.2 GTF3C2 SIN3A SP1 ZBTB40 FOXA1 RBPJ POLR2A NR2F6 HCFC1 ZNF362 LBHD1 UQCC3 lnc-C11orf98-2 WDR74 NXF1 EML3 GANAB CSKMT INTS5 ENSG00000256690
GH11J062651 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.2 -30.8 -30779 2.5 GTF3C2 SIN3A ZNF24 SP1 ZBTB40 SREBF1 SIX5 ZBTB6 FOXA1 RBPJ INTS5 EML3 NXF1 MTA2 WDR74 GANAB ENSG00000256690 STX5 TUT1 CSKMT
GH11J062712 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 11.1 -91.9 -91910 3.8 FOXA1 SP1 CBFA2T2 MLLT1 PRDM1 RXRA FOXA2 ZNF316 NR2C1 JUND piR-45619 HNRNPUL2 TTC9C UBXN1 LBHD1 LRRN4CL POLR2G GANAB B3GAT3 UQCC3
GH11J062537 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.3 +78.3 78262 11.9 SIN3A SP1 ZBTB40 CTCF LCORL FOXA1 MLX RBPJ SMARCE1 POLR2A AHNAK EML3 NXF1 TUT1 WDR74 TAF6L CSKMT MTA2 ENSG00000256690 TMEM179B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B3GAT3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B3GAT3 gene promoter:
  • CREB
  • deltaCREB
  • GATA-1
  • GATA-2
  • Max1
  • Sp1
  • YY1

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)
Size:
6,880 bases
Orientation:
Minus strand

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

Suggested Antigen Peptide Sequences for B3GAT3 Gene

GenScript: Design optimal peptide antigens:
  • UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase (B3GA3_HUMAN)
  • cDNA, FLJ79127, highly similar to Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (EC 2.4.1.135) (B7ZAB3_HUMAN)
  • B3GAT3 protein (Q5U676_HUMAN)

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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:24168, Rhea:RHEA-COMP:12571, Rhea:RHEA-COMP:12573, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132090, ChEBI:CHEBI:132093; EC=2.4.1.135; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by EDTA.

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,NAS 10842173
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GAT3

Clone 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
golgi apparatus 5
extracellular 2
plasma membrane 1
endoplasmic reticulum 1
peroxisome 0

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: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 --
GO:0043085 positive regulation of catalytic activity IDA 24425863
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 48
UDP-alpha-D-glucuronic acid Experimental Pharma Target 0
Uridine 5'-diphosphate Experimental Pharma Target 0
Chondroitin Pharma 68

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

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

Transcripts for B3GAT3 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GAT3

Clone 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, 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 33
  • 100 (a)
OneToOne
B3GAT3 32
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia B3GAT3 33 32
  • 91.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia B3GAT3 33 32
  • 91.54 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3gat3 32
  • 88.46 (n)
mouse
(Mus musculus)
Mammalia B3gat3 17 33 32
  • 88.16 (n)
oppossum
(Monodelphis domestica)
Mammalia B3GAT3 33
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GAT3 33
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 33
  • 44 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia B3GAT3 33
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gat3 32
  • 59.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia b3gat3 32
zebrafish
(Danio rerio)
Actinopterygii b3gat3 33 32
  • 63.39 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta GlcAT-I 33 32
  • 55.56 (n)
ManyToMany
BcDNA:GH05057 34
  • 44 (a)
EG:EG0007.5 34
  • 43 (a)
CG3881 34
  • 41 (a)
GlcAT-S 33
  • 25 (a)
ManyToMany
GlcAT-P 33
  • 23 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002801 32
  • 53.46 (n)
worm
(Caenorhabditis elegans)
Secernentea sqv-8 33 34 32
  • 51.77 (n)
ManyToMany
C54C8.5 34
  • 38 (a)
glct-1 33
  • 37 (a)
ManyToMany
E03H4.12 34
  • 37 (a)
glct-4 33
  • 35 (a)
ManyToMany
glct-3 33
  • 34 (a)
ManyToMany
glct-5 33
  • 34 (a)
ManyToMany
glct-6 33
  • 34 (a)
ManyToMany
glct-2 33
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7425 33
  • 44 (a)
ManyToMany
CSA.7080 33
  • 40 (a)
ManyToMany
CSA.7081 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for B3GAT3: view image

Paralogs for B3GAT3 Gene

Paralogs for B3GAT3 Gene

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

  • B3GA3_HUMAN
  • B7ZAB3_HUMAN
  • E9PNA1_HUMAN
  • E9PQ60_HUMAN
  • G3V150_HUMAN
  • Q5U676_HUMAN

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
rs112223093 benign, Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 62,616,594(-) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs140755387 uncertain-significance, Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 62,617,051(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs147684283 uncertain-significance, Retinitis Pigmentosa, Dominant 62,615,094(-) C/T downstream_transcript_variant
rs1565074659 uncertain-significance, Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 62,615,754(-) C/G 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs202210450 uncertain-significance, Retinitis Pigmentosa, Dominant 62,614,853(-) G/A/C downstream_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

(2) MalaCards diseases for B3GAT3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, 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 23 56
  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 23 56
  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 23 56
  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 56
  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 56

Products for B3GAT3 Gene

Sources for B3GAT3 Gene