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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

B4GALT7 Gene

protein-coding   GIFtS: 53
GCID: GC05P177027

xylosylprotein beta 1,4-galactosyltransferase, polypeptide...
 Explore 5 diseases affiliated with
B4GALT7 via
MalaCards
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 Human Malady Compendium 
Biological research products
for B4GALT7    

Aliases
for B4GALT7 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Xylosylprotein Beta 1,4-Galactosyltransferase, Polypeptide 71 2     Beta-1,4-Galactosyltransferase 72
XGALT12 3 5     Beta-1,4-Galactosyltransferase VII2
Beta4Gal-T73     Beta4GalT-VII1
Beta-1,4-GalTase 72 3     Galactosyltransferase I2
UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 72 3     Proteoglycan UDP-Galactose:Beta-Xylose Beta1,4-Galactosyltransferase I2
UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 72 3     Beta4Gal-T73
XGPT12 5     EC 2.4.1.-3
XGALT-11     B4Gal-T71

External Ids:    HGNC: 9301   Entrez Gene: 112852   Ensembl: ENSG000000278477   OMIM: 6043275   UniProtKB: Q9UBV73   

Export aliases for B4GALT7 gene to outside databases

Previous GC identifers: GC05P177400 GC05P177868 GC05P177095 GC05P177140 GC05P176959 GC05P171950


Summaries
for B4GALT7 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for B4GALT7:
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)

UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
Function: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small
proteoglycans in skin fibroblasts

Gene Wiki entry for B4GALT7


Genomic Views
for B4GALT7 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_023133.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B4GALT7 gene promoter:
         Max1   ER-alpha   AML1a   E47   CP2   ARP-1   NF-kappaB1   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: B4GALT7 promoter sequence
   Search SABiosciences Chromatin IP Primers for B4GALT7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B4GALT7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.2-q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.1-q35.3

B4GALT7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALT7 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P177027:  view genomic region     (about GC identifiers)

Start:
 177,027,101 bp from pter      End:
 177,037,348 bp from pter
Size:
 10,248 bases      Orientation:
 plus strand

Proteins
for B4GALT7 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7 (See protein sequence)
Recommended Name: Beta-1,4-galactosyltransferase 7  
Size: 327 amino acids; 37406 Da
Cofactor: Manganese
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Cis cisternae
of Golgi stack
Secondary accessions: B3KN39 Q9UHN2

Explore the universe of human proteins at neXtProt for B4GALT7: NX_Q9UBV7

B4GALT7 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_009186.1  
ENSEMBL proteins: 
 ENSP00000029410   ENSP00000425591   ENSP00000423438   ENSP00000420886   ENSP00000423868  
Reactome Protein details: Q9UBV7
Human Recombinant Protein Products: 
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Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000139Golgi membrane TAS--
GO:0005794Golgi apparatus IDA10506123
GO:0016021integral to membrane IDA10438455
GO:0032580Golgi cisterna membrane IEA--


B4GALT7 for ontologies           About GeneDecksing



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Protein Domains /
Families
for B4GALT7 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
B4GALT7 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR003859 Galactosyl_T_2_met

Graphical View of Domain Structure for InterPro Entry Q9UBV7

ProtoNet protein and cluster: Q9UBV7

1 Blocks protein family: IPB003859 Metazoa galactosyltransferase

UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
Similarity: Belongs to the glycosyltransferase 7 family


Function
for B4GALT7 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
Function Summary:

     UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
Function: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small
proteoglycans in skin fibroblasts
Catalytic activity: UDP-alpha-D-galactose + O-beta-D-xylosyl-[protein] = UDP +
4-beta-D-galactosyl-O-beta-D-xylosyl-[protein]

     Genatlas biochemistry entry for B4GALT7:
UDP-galactose

Enzyme Number (IUBMB): EC 2.4.1.-1

miRNA
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5 QIAGEN miScript miRNA Assays for microRNAs that regulate B4GALT7:
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SwitchGear 3'UTR luciferase reporter plasmid: B4GALT7 3' UTR sequence
Inhib. RNA
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Gene Editing
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Clone
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Cell Line
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In Situ Assay
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Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008378galactosyltransferase activity IMP16583246
GO:0016757transferase activity, transferring glycosyl groups ----
GO:0046525xylosylprotein 4-beta-galactosyltransferase activity IDA10438455
GO:0046872metal ion binding IEA--


B4GALT7 for ontologies           About GeneDecksing



Pathways & Interactions
for B4GALT7 gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1MPS IIIC - Sanfilippo syndrome C
8/15 pathways (see all 15)
MPS VI - Maroteaux-Lamy syndrome1.00
MPS IIIA - Sanfilippo syndrome A1.00
MPS IIIC - Sanfilippo syndrome C1.00
MPS IIID - Sanfilippo syndrome D1.00
MPS I - Hurler syndrome1.00
MPS IX - Natowicz syndrome1.00
Mucopolysaccharidoses1.00
MPS II - Hunter syndrome1.00
2dermatan sulfate biosynthesis
dermatan sulfate biosynthesis1.00
chondroitin sulfate biosynthesis0.64
Glycosaminoglycan biosynthesis - chondroitin sulfate0.73
glycoaminoglycan-protein linkage region biosynthesis0.38
3A tetrasaccharide linker sequence is required for GAG synthesis
A tetrasaccharide linker sequence is required for GAG synthesis1.00
Chondroitin sulfate/dermatan sulfate metabolism0.54
4Metabolism
Metabolism1.00
Metabolic pathways0.38
5heparan sulfate biosynthesis
heparan sulfate biosynthesis1.00
Glycosaminoglycan biosynthesis - heparan sulfate0.83

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for B4GALT7
    Sperm Motility

4 BioSystems Pathways for B4GALT7 
    glycoaminoglycan-protein linkage region biosynthesis
chondroitin sulfate biosynthesis
heparan sulfate biosynthesis
dermatan sulfate biosynthesis

5/19        Reactome Pathways for B4GALT7 (see all 19)
    Chondroitin sulfate/dermatan sulfate metabolism
MPS VI - Maroteaux-Lamy syndrome
Metabolism
Disease
MPS II - Hunter syndrome


3         Kegg Pathways  (Kegg details for B4GALT7):
    Glycosaminoglycan biosynthesis - chondroitin sulfate
Glycosaminoglycan biosynthesis - heparan sulfate
Metabolic pathways

UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
Pathway: Protein modification; protein glycosylation


B4GALT7 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B4GALT7

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/23 Interacting proteins for B4GALT7 (ENSP000000294104) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

InteractantInteraction Details
GeneCardExternal ID(s)
B3GALT6ENSP000003684964STRING: ENSP00000368496
BGNENSP000003273364STRING: ENSP00000327336
DCNENSP000000527544STRING: ENSP00000052754
GPC2ENSP000002923774STRING: ENSP00000292377
GPC5ENSP000003662674STRING: ENSP00000366267
About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005975carbohydrate metabolic process TAS--
GO:0006024glycosaminoglycan biosynthetic process IDA10438455
GO:0006029proteoglycan metabolic process IMP16583246
GO:0006464cellular protein modification process TAS10473568
GO:0006486protein glycosylation IEA--


B4GALT7 for ontologies           About GeneDecksing



Drugs & Compounds
for B4GALT7 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

B4GALT7 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for B4GALT7

1 HMDB Compound for B4GALT7    About this table
CompoundSynonyms CAS #PubMed Ids
Manganesemanganese 7439-96-5--
2 Novoseek chemical compound relationships for B4GALT7 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
glycosaminoglycan 72.2 5 15859521 (2), 12215432 (1), 18158310 (1)
xylose 57.6 2 12215432 (1)

Search CenterWatch for drugs/clinical trials and news about B4GALT7 / B4GT7 

Transcripts
for B4GALT7 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
REFSEQ mRNAs for B4GALT7 gene: 
NM_007255.2  

Unigene Cluster for B4GALT7:

Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
Hs.455109  [show with all ESTs]
Unigene Representative Sequence: AK022566
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000029410(uc003mhy.3 uc003mhz.3) ENST00000502420 ENST00000505433
ENST00000510761 ENST00000505468 ENST00000507061 ENST00000505145 ENST00000515353


miRNA
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hsa-miR-3173-3p hsa-miR-3151 hsa-miR-516a-3p hsa-miR-516b* hsa-miR-338-3p
SwitchGear 3'UTR luciferase reporter plasmid: B4GALT7 3' UTR sequence
Inhib. RNA
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B4GALT7
Clone
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Additional cDNA sequence: 

AB028600.1 AF142675.1 AJ005382.1 AK022566.1 AK023506.1 AK095882.1 AK123092.1 AY358578.1 
BC007317.2 BC062983.1 BC072403.1 

10 DOTS entries:

DT.213863  DT.97797729  DT.100816555  DT.100816558  DT.100816559  DT.409072  DT.75175811  DT.120800844 
DT.120800846  DT.65285309 

24/166 AceView cDNA sequences (see all 166):

BC062983 AU156288 BC072403 BU623622 CR612279 AI676088 AA281637 CR626294 
BC007317 CR618705 AI031683 AA358664 BF343877 BM983135 CB266222 BX385075 
BM682941 D80683 BU623889 CR617329 BU849735 BM548760 BU553027 AA365120 

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT7 (see all 7)    About this scheme

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


ECgene alternative splicing isoforms for B4GALT7

Expression
for B4GALT7 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

B4GALT7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCGGAATGTG

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)
About this image

B4GALT7 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
2 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
BoneMandibular ProcessBone
BoneMaxillary ProcessBone
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See B4GALT7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for B4GALT7

SOURCE GeneReport for Unigene cluster: Hs.455109

UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
Tissue specificity: High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal
muscle and lung

    SABiosciences Custom PCR Arrays for B4GALT7
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In Situ
Assay Products: 
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Orthologs
for B4GALT7 gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section
This gene was present in the common ancestor of animals.

Orthologs for B4GALT7 gene from 7/20 species (see all 20)    About this table
Organism Taxonomic
classification		 Gene Description Human
Similarity		 Orthology
Type		 Details
mouse
(Mus musculus)		 Mammalia B4galt71 , 5 xylosylprotein beta1,4-galactosyltransferase, polypeptide more1, 5 88.55(n)1
92.33(a)1		   13 (30.06 cM)5
2182711  NM_146045.11  NP_666157.11 
 555998965 
chicken
(Gallus gallus)		 Aves B4GALT71 xylosylprotein beta 1,4-galactosyltransferase, polypeptide more 78.62(n)
79.25(a)		   416359  NM_001039911.1  NP_001035000.1 
lizard
(Anolis carolinensis)		 Reptilia B4GALT76
 --
 74(a)
 1 ↔ 1
 2(146109433-146116524)
African clawed frog
(Xenopus laevis)		 Amphibia AW638002.12   -- 75.75(n)    AW638002.1 
zebrafish
(Danio rerio)		 Actinopterygii Dr.177022 Transcribed sequence with moderate similarity to protein more 74.38(n)    BQ078482.1 
fruit fly
(Drosophila melanogaster)		 Insecta &bgr;4GalT73
beta4GalT71		 proteoglycan biosynthesis xylosylprotein
4-beta-galactosyltransferase3
beta-4-galactosyltransferase 71		 52(a)3
57.92(n)1
53.61(a)1		   96B163
429911  NM_143062.21  NP_651319.21 
worm
(Caenorhabditis elegans)		 Secernentea sqv-31 , 3 Galactosyltransferase3
Protein SQV-31		 48(a)3
50.07(n)1
49.78(a)1		   III(9850760-9852023)3
1763821  NM_066763.51  NP_499164.11 


ENSEMBL Gene Tree for B4GALT7 (if available)
TreeFam Gene Tree for B4GALT7 (if available) 

Paralogs
for B4GALT7 gene

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for B4GALT7 gene
B4GALT22  B4GALT52  B4GALT42  B4GALT12  B4GALT62  B4GALT32  

B4GALT7 for paralogs           About GeneDecksing



Genomic Variants
for B4GALT7 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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10/274 NCBI SNPs in B4GALT7 are shown (see all 274)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 5 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs1219178171,2
Cpathogenic177034446(+) CGTGGA/CCTCCC 2 D A mis10--------
rs1219178181,2
Cpathogenic177034506(+) GCTGCC/TCTCCA 2 P L mis10--------
rs289378691,2
Cpathogenic177035995(+) AGAAGC/TGCATC 2 R C mis1 ese30--------
rs1814389391,2
--177025159(+) CAGCCA/GCCAAC 1 -- us2k10--------
rs1428334791,2
--177025265(+) AATTGC/TTTGAC 1 -- us2k10--------
rs1857759771,2
--177025273(+) GACCCC/TGGGAG 1 -- us2k10--------
rs1483971141,2
C,--177025364(+) TAAAT-/AAATA 
        AAATA 		1 -- us2k10--------
rs576682561,2
C--177025367(+) TAAAATAAAA/- 
        AAGTA 		1 -- us2k11Minor allele frequency- -:0.50NA 2
rs1441410871,2
C,--177025538(+) TGATA-/TAGT  
        TAGTA 		1 -- us2k10--------
rs285955851,2
F,--177025595(+) ACCACG/TGTTCT 1 -- us2k12Minor allele frequency- T:0.04WA NA 238

HapMap Linkage Disequilibrium report for B4GALT7 (177027101 - 177037348 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for B4GALT7: --
Human Gene Mutation Database (HGMD): B4GALT7

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing B4GALT7
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Disorders / Diseases
for B4GALT7 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
B4GALT7 for disorders           About GeneDecksing

OMIM gene information: 604327   
OMIM disorders: 130070  
UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
  • Defects in B4GALT7 are the cause of Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]. EDSP is a
    • variant form of Ehlers-Danlos syndrome characterized by progeroid facies, mild mental retardation, short stature, skin
    hyperextensibility, moderate skin fragility, joint hypermobility principally in digits

    5 diseases for B4GALT7:    About MalaCards
    ehlers-danlos syndrome    ehlers-danlos syndrome, progeroid form    ehlers-danlos syndrome progeroid type    cutis laxa
    short stature

    1 disease from the University of Copenhagen DISEASES database for B4GALT7:
    Ehlers-Danlos syndrome

    1 Novoseek disease relationship for B4GALT7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ehlers-danlos syndrome 89.5 8 18158310 (2), 12417421 (1), 16583246 (1), 19133250 (1) (see all 6)


    Export disorders for B4GALT7 gene to outside databases

    Publications
    for B4GALT7 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for B4GALT7 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with B4GALT7)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PubMed id 10438455)1, 2, 3 Okajima T.... Furukawa K. (1999)
    2. Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4- galactosyltransferase gene family. (PubMed id 10473568)1, 2, 3 Almeida R.... Clausen H. (1999)
    3. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. (PubMed id 10506123)1, 2, 9 Okajima T.... Urano T. (1999)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    7. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (1999)
    8. Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. (PubMed id 18158310)1, 9 Gotte M....Kiesel L. (2008)
    9. Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). (PubMed id 16583246)1, 9 Seidler D.G....Gotte M. (2006)
    10. Assignment of human xylosylprotein beta-1,4-galactosyltransferase gene (B4GALT7) to human chromosome 5q35.2-->q35.3 by in situ hybridization. (PubMed id 10894925)1, 9 Kuroiwa A....Furukawa K. (2000)

    External Searches for B4GALT7 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing B4GALT7 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11285 HGNC: 930 AceView: B4GALT7 Ensembl:ENSG00000027847 euGenes: HUgn11285
    ECgene: B4GALT7 Kegg: 11285 H-InvDB: B4GALT7

    Other Databases showing B4GALT7 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing B4GALT7 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for B4GALT7 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_442

    Intellectual Property
    for B4GALT7 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for B4GALT7 gene:
    Search GeneIP for patents involving B4GALT7

    GeneCards and IP:
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