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
External Ids for B4GALT7 Gene
- HGNC: 930
- Entrez Gene: 11285
- Ensembl: ENSG00000027847
- OMIM: 604327
- UniProtKB: Q9UBV7
Previous GeneCards Identifiers for B4GALT7 Gene
- GC05P177400
- GC05P177868
- GC05P177095
- GC05P177140
- GC05P176959
- GC05P171950
- GC05P177027
Summaries 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.
Additional gene information for B4GALT7 Gene
- Monarch Initiative
- Search for B4GALT7 at DataMed
- Search for B4GALT7 at HumanCyc
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
- 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
Regulatory Element Products
Genomic Locations for B4GALT7 Gene
Genomic Locations for B4GALT7 Gene
- chr5:177,600,100-177,610,347
- (GRCh38/hg38)
- Size:
- 10,248 bases
- Orientation:
- Plus strand
- chr5:177,027,101-177,037,348
- (GRCh37/hg19)
- Size:
- 10,248 bases
- Orientation:
- Plus strand
Genomic View for B4GALT7 Gene
Genes around B4GALT7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q35.3 by Entrez Gene
- 5q35.3 by HGNC
- 5q35.3 by Ensembl
B4GALT7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for B4GALT7 Gene
Proteins for B4GALT7 Gene
-
Protein details for B4GALT7 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UBV7-B4GT7_HUMAN
- Recommended name:
- Beta-1,4-galactosyltransferase 7
- Protein Accession:
- Q9UBV7
- B3KN39
- Q9UHN2
Protein attributes for B4GALT7 Gene
- Size:
- 327 amino acids
- Molecular mass:
- 37406 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
- No Data Available
Protein Expression for B4GALT7 Gene
Post-translational modifications for B4GALT7 Gene
Other Protein References for B4GALT7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for B4GALT7
-
Abcam antibodies for B4GALT7
- Invitrogen Antibodies for B4GALT7 (AFLGC-B4GALT7)
- Search GeneTex for Antibodies for B4GALT7
Protein Products
-
OriGene Purified Proteins for B4GALT7
- Search Origene for MassSpec and Protein Over-expression Lysates for B4GALT7
- Origene Custom Protein Services for B4GALT7
- Search GeneTex for Proteins for B4GALT7
-
Abcam proteins for B4GALT7
Assay Products
No data available for DME Specific Peptides for B4GALT7 Gene
Domains & Families for B4GALT7 Gene
Gene Families for B4GALT7 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for B4GALT7 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for B4GALT7 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UBV7- Family:
-
- Belongs to the glycosyltransferase 7 family.
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:
- UDP-galactose
Enzyme Numbers (IUBMB) for B4GALT7 Gene
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for B4GALT7 Gene
- GenomeRNAi human phenotypes for B4GALT7:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased viability after Maraba virus infection
- shRNA abundance <= 50%
- Increased viability
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for B4GALT7
-
CRISPR Products
-
OriGene CRISPR knockouts for B4GALT7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT7
- genomics-online: gRNA clones - Search results for 112 available B4GALT7 gene related products
- Overview of 112 available B4GALT7 gene related products
- Applied Biological Materials CRISPR for B4GALT7
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT7
- GenScript: Design CRISPR guide RNA sequences for B4GALT7
miRNA for B4GALT7 Gene
- miRTarBase miRNAs that target B4GALT7
-
- hsa-mir-1301-3p (MIRT036015)
- hsa-mir-7160-5p (MIRT448197)
- hsa-mir-4722-5p (MIRT448198)
- hsa-mir-1827 (MIRT448199)
- hsa-mir-4635 (MIRT448200)
- hsa-mir-4649-3p (MIRT448201)
- hsa-mir-4768-3p (MIRT448202)
- hsa-mir-940 (MIRT448203)
- hsa-mir-6808-5p (MIRT448204)
- hsa-mir-6893-5p (MIRT448205)
- hsa-mir-4533 (MIRT462840)
- hsa-mir-3978 (MIRT462841)
- hsa-mir-3665 (MIRT462842)
- hsa-mir-657 (MIRT462843)
- hsa-mir-361-3p (MIRT462844)
- hsa-mir-1825 (MIRT462845)
- hsa-mir-152-3p (MIRT462846)
- hsa-mir-148b-3p (MIRT462847)
- hsa-mir-148a-3p (MIRT462848)
- hsa-mir-3914 (MIRT462849)
- hsa-mir-7977 (MIRT632180)
- hsa-mir-106a-3p (MIRT682055)
- hsa-mir-4684-3p (MIRT682056)
- hsa-mir-650 (MIRT682057)
- hsa-mir-3612 (MIRT682058)
- hsa-mir-2467-3p (MIRT682059)
- hsa-mir-4537 (MIRT682060)
- hsa-mir-1247-3p (MIRT682061)
- hsa-mir-4257 (MIRT682062)
- hsa-mir-6818-3p (MIRT686126)
- hsa-mir-3620-5p (MIRT686127)
- hsa-mir-1587 (MIRT686128)
- hsa-mir-4674 (MIRT686129)
- hsa-mir-4684-5p (MIRT686130)
- hsa-mir-3147 (MIRT686131)
- hsa-mir-593-3p (MIRT686132)
- hsa-mir-6895-3p (MIRT686133)
- hsa-mir-5699-3p (MIRT686134)
- hsa-mir-4421 (MIRT686135)
- hsa-mir-339-5p (MIRT686136)
- hsa-mir-4259 (MIRT686137)
- hsa-mir-382-5p (MIRT686138)
- hsa-mir-495-5p (MIRT686139)
- hsa-mir-548c-3p (MIRT686140)
- hsa-mir-1304-5p (MIRT697135)
- hsa-mir-6765-5p (MIRT697136)
- hsa-mir-298 (MIRT697137)
- hsa-mir-6086 (MIRT697138)
- hsa-mir-377-5p (MIRT697139)
- hsa-mir-6511a-5p (MIRT697140)
- hsa-mir-1910-3p (MIRT697141)
- hsa-mir-25-3p (MIRT764160)
- hsa-mir-32-5p (MIRT765574)
- hsa-mir-363-3p (MIRT766179)
- hsa-mir-367-3p (MIRT766618)
- hsa-mir-500a-3p (MIRT772966)
- hsa-mir-5186 (MIRT773481)
- hsa-mir-767-5p (MIRT781939)
- hsa-mir-92a-3p (MIRT782671)
- hsa-mir-92b-3p (MIRT782710)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT7
- Browse OriGene Inhibitory RNA Products For B4GALT7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT7
- genomics-online: shRNA clones - Search results for 112 available B4GALT7 gene related products
- Overview of 112 available B4GALT7 gene related products
Clone Products
- Sino Biological Human cDNA Clone for B4GALT7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT7
- Applied Biological Materials Clones for B4GALT7
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for B4GALT7
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.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALT7 Gene
Pathways & Interactions for B4GALT7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chondroitin sulfate/dermatan sulfate metabolism | ||
| 2 | Glycosaminoglycan metabolism | ||
| 3 | heparan sulfate biosynthesis | ||
| 4 | Metabolism |
.37
|
|
| 5 | Sweet Taste Signaling |
.37
|
|
Pathways by source for B4GALT7 Gene
4 BioSystems pathways for B4GALT7 Gene
3 KEGG pathways for B4GALT7 Gene
1 Qiagen pathway for B4GALT7 Gene
UniProtKB/Swiss-Prot Q9UBV7-B4GT7_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for B4GALT7 Gene
Selected Interacting proteins:
Q9UBV7-B4GT7_HUMAN
ENSP00000029410
for B4GALT7 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for B4GALT7
| 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 | -- |
No data available for SIGNOR curated interactions for B4GALT7 Gene
Transcripts for B4GALT7 Gene
mRNA/cDNA for B4GALT7 Gene
- (3) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (166) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000029410 1747 bps (uc003mhy.4)
- ENST00000502420 1305 bps (uc063khe.1)
- ENST00000505433 1064 bps (uc063khf.1)
- ENST00000510761 552 bps (uc063khg.1)
- ENST00000505468 544 bps (uc063khh.1)
Unigene Clusters for B4GALT7 Gene
CRISPR Products
-
OriGene CRISPR knockouts for B4GALT7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT7
- genomics-online: gRNA clones - Search results for 112 available B4GALT7 gene related products
- Overview of 112 available B4GALT7 gene related products
- Applied Biological Materials CRISPR for B4GALT7
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT7
- GenScript: Design CRISPR guide RNA sequences for B4GALT7
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT7
- Browse OriGene Inhibitory RNA Products For B4GALT7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT7
- genomics-online: shRNA clones - Search results for 112 available B4GALT7 gene related products
- Overview of 112 available B4GALT7 gene related products
Clone Products
- Sino Biological Human cDNA Clone for B4GALT7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT7
- Applied Biological Materials Clones for B4GALT7
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | ||||||||||||||||||||||||||||||||||
| SP7: |
Expression 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:
B4GALT7SOURCE GeneReport for Unigene cluster for B4GALT7 Gene:
Hs.455109mRNA Expression by UniProt/SwissProt for B4GALT7 Gene:
Q9UBV7-B4GT7_HUMAN
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
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- scalp
- skull
Thorax:
- aorta
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
Pelvis:
- pelvis
- testicle
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 vessel
- hair
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for B4GALT7
-
OriGene qPCR primer pairs and template standards for B4GALT7
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | B4GALT7 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | B4GALT7 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | B4GALT7 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | B4galt7 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | B4galt7 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | B4GALT7 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | B4GALT7 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | B4GAL-T7 34 |
|
OneToOne | |
| B4GALT7 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | B4GALT7 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | b4galt7 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | b4galt7 34 33 |
|
OneToOne | |
| Dr.17702 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | beta4GalT7 34 33 |
|
OneToMany | |
| &bgr;4GalT7 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | sqv-3 34 35 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- 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
- ENSEMBL:
- Gene Tree for B4GALT7 (if available)
- TreeFam:
- Gene Tree for B4GALT7 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for B4GALT7: view image
Paralogs for B4GALT7 Gene
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT7 Gene
Disorders for B4GALT7 Gene
(8) MalaCards diseases for B4GALT7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ehlers-danlos syndrome, spondylodysplastic type, 1 |
|
|
| spondylodysplastic ehlers-danlos syndrome |
|
|
| ehlers-danlos syndrome progeroid type |
|
|
| reunion island larsen syndrome |
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| multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects |
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Search B4GALT7 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
B4GT7_HUMAN- 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
No data available for Genatlas for B4GALT7 Gene
Publications for B4GALT7 Gene
- 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
- 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
- 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
- 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
- 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
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