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GALNT7 Gene

protein-coding   GIFtS: 59
GCID: GC04P174089

Polypeptide N-Acetylgalactosaminyltransferase 7

(Previous name: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase...)
  Search for GALNT7
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polypeptide N-Acetylgalactosaminyltransferase 71 2     GalNAcT72
Polypeptide GalNAc Transferase 71 2 3     N-Acetylgalactosaminyltransferase 72
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 7 (GalNAc-T7)1 2
     EC 2.4.1.-3
Protein-UDP Acetylgalactosaminyltransferase 72 3     GalNAc-T73
Pp-GaNTase 72 3     EC 2.4.18
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 72 3     EC 2.4.1.378
GALNAC-T72     EC 2.4.1.418

External Ids:    HGNC: 41291   Entrez Gene: 518092   Ensembl: ENSG000001095867   OMIM: 6050055   UniProtKB: Q86SF23   

Export aliases for GALNT7 gene to outside databases

Previous GC identifers: GC04P175010 GC04P174627 GC04P174785 GC04P174464 GC04P174326 GC04P169916


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GALNT7 Gene:
This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene
controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine
to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common
sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity
for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This
protein may function as a follow-up enzyme in the initiation step of O-glycosylation. (provided by RefSeq, Jul
2008)

GeneCards Summary for GALNT7 Gene:
GALNT7 (polypeptide N-acetylgalactosaminyltransferase 7) is a protein-coding gene. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT12.

UniProtKB/Swiss-Prot: GALT7_HUMAN, Q86SF2
Function: Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer
of an N-acetyl-D-galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the
family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the
protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional
GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate
peptide substrate may remain unidentified




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALNT7 gene promoter:
         AML1a   FOXD3   FOXL1   Evi-1   POU2F1   FOXJ2 (long isoform)   POU2F1a   Sox9   FOXJ2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALNT7 promoter sequence
   Search Chromatin IP Primers for GALNT7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALNT7


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

Entrez Gene cytogenetic band: 4q31.1   Ensembl cytogenetic band:  4q34.1   HGNC cytogenetic band: 4q31.1

GALNT7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT7 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P174089:  view genomic region     (about GC identifiers)

Start:
174,089,904 bp from pter      End:
174,245,118 bp from pter
Size:
155,215 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GALT7_HUMAN, Q86SF2 (See protein sequence)
Recommended Name: N-acetylgalactosaminyltransferase 7  
Size: 657 amino acids; 75389 Da
Cofactor: Manganese (By similarity)
Secondary accessions: B3KQU3 Q7Z5W7 Q9UJ28

Explore the universe of human proteins at neXtProt for GALNT7: NX_Q86SF2

Explore proteomics data for GALNT7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GALNT7 (Q86SF2) (see all 9)
     RTVHSVI  MAGGLFA  ENLLTSS  PCSRVGH 


    See GALNT7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_059119.2  
    ENSEMBL proteins: 
     ENSP00000265000   ENSP00000427050   ENSP00000427095   ENSP00000427341  
    Reactome Protein details: Q86SF2

    GALNT7 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GLT2: Glycosyltransferase family 2 domain containing

    3 InterPro protein domains:
     IPR000772 Ricin_B_lectin
     IPR001173 Glyco_trans_2
     IPR027791 Galactosyl_T_C

    Graphical View of Domain Structure for InterPro Entry Q86SF2

    ProtoNet protein and cluster: Q86SF2

    2 Blocks protein domains:
    IPB000772 Ricin B lectin domain
    IPB001173 Glycosyl transferase


    UniProtKB/Swiss-Prot: GALT7_HUMAN, Q86SF2
    Domain: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also
    called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal
    domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal
    binding (By similarity)
    Domain: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By
    similarity)
    Similarity: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily
    Similarity: Contains 1 ricin B-type lectin domain


    Find genes that share domains with GALNT7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GALT7_HUMAN, Q86SF2
    Function: Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer
    of an N-acetyl-D-galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the
    family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the
    protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional
    GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate
    peptide substrate may remain unidentified

         Enzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.372 EC 2.4.1.-1 EC 2.4.1.412

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with GALNT7           About GenesLikeMe


    Animal Models:
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    Block miRNA regulation of human, mouse, rat GALNT7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GALNT7 (see all 96):
    hsa-miR-520f hsa-miR-300 hsa-miR-15a hsa-miR-199a-3p hsa-miR-1245 hsa-miR-128 hsa-miR-30d hsa-miR-3161
    SwitchGear 3'UTR luciferase reporter plasmidGALNT7 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GALNT7

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GALT7_HUMAN, Q86SF2: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    endoplasmic reticulum2
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with GALNT7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GALNT7 About    
    See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47
    Mucin type O-Glycan biosynthesis0.47
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with GALNT7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for GALNT7
        O-linked glycosylation of mucins


    2 Kegg Pathways  (Kegg details for GALNT7):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GALT7_HUMAN, Q86SF2
    Pathway: Protein modification; protein glycosylation

        Pathway & Disease-focused RT2 Profiler PCR Array including GALNT7: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GALNT7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for GALNT7 (Q86SF22 ENSP000002650004) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    C1GALT1C1ENSP000003043644STRING: ENSP00000304364
    GCNT1ENSP000003659204STRING: ENSP00000365920
    ST6GALNAC1ENSP000001566264STRING: ENSP00000156626
    B3GNT6ENSP000003462564STRING: ENSP00000346256
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS10544240
    GO:0006493protein O-linked glycosylation TAS10544240
    GO:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with GALNT7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GALNT7 (GALT7)

    5 HMDB Compounds for GALNT7    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Lactosaminebeta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose (see all 8)13000-25-4--
    Manganesemanganese 7439-96-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GALNT7 gene: 
    NM_017423.2  

    Unigene Cluster for GALNT7:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)
    Hs.548088  [show with all ESTs]
    Unigene Representative Sequence: NM_017423
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265000(uc003isz.4 uc011ckb.2) ENST00000512285 ENST00000502407
    ENST00000505308 ENST00000506317 ENST00000503213 ENST00000515862
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    hsa-miR-520f hsa-miR-300 hsa-miR-15a hsa-miR-199a-3p hsa-miR-1245 hsa-miR-128 hsa-miR-30d hsa-miR-3161
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    Additional mRNA sequence: 

    AJ002744.1 AJ505958.1 AK295509.1 BC020541.2 BC035303.1 BC046129.1 BC047468.1 

    9 DOTS entries:

    DT.113308  DT.101979006  DT.91970164  DT.95348694  DT.99939540  DT.102827605  DT.91737834  DT.91925333 
    DT.91737836 

    Selected AceView cDNA sequences (see all 142):

    BM142144 AA583509 BM141846 BM141730 BE350945 BG434722 AK128437 BE551952 
    BC020541 AI355592 BQ635950 AI274788 BM976847 AW008429 AW166727 CK819824 
    BC046129 BX445820 AI954806 AI206131 BQ212483 BM142003 BM466237 BQ222837 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for GALNT7    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b
    SP1:                          -                 -           -                                   -                           
    SP2:                                                                                                                        
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for GALNT7

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GALNT7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATTTTAA
    GALNT7 Expression
    About this image


    GALNT7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Hindgut
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Kidney (Urinary System)
             Metanephros
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
    GALNT7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALNT7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.548088

    UniProtKB/Swiss-Prot: GALT7_HUMAN, Q86SF2
    Tissue specificity: Widely expressed. Expressed in uterus, retina, kidney, small intestine, omentum, stomach and
    CNS

        Pathway & Disease-focused RT2 Profiler PCR Array including GALNT7: 
              Glycosylation in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT7

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GALNT7 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galnt71 , 5 UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase more1, 5 88.89(n)1
    93.3(a)1
      8 (29.92 cM)5
    1081501  NM_001167981.11  NP_001161453.11 
     575238285 
    chicken
    (Gallus gallus)
    Aves GALNT71 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 81.54(n)
    88.11(a)
      422561  XM_420521.4  XP_420521.4 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT76
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-a...
    86(a)
    1 ↔ 1
    3(144530295-144607905)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ033440.12   -- 80.32(n)    BJ033440.1 
    zebrafish
    (Danio rerio)
    Actinopterygii galnt71 UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase more 70.4(n)
    79.75(a)
      553668  NM_001020641.1  NP_001018477.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG21033
    GalNAc-T21
    polypeptide
    N-acetylgalactosaminyltransferase3
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1
    37(a)
    (best of 5)3
    50.23(n)1
    49.12(a)1
      62F43
    328361  NM_167623.11  NP_728178.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gly-71 , 3 N-acetylgalactosaminyltransferase3
    gly-71
    45(a)
    (best of 2)3
    51.18(n)1
    48.04(a)1
      V(1816005-1821118)3
    1786611  NM_071111.31  NP_503512.11 


    ENSEMBL Gene Tree for GALNT7 (if available)
    TreeFam Gene Tree for GALNT7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GALNT7 gene
    GALNT122  GALNT12  GALNTL62  GALNT32  GALNT22  GALNT102  GALNT132  GALNT62  
    POC1B-GALNT42  GALNT152  GALNT52  GALNT142  GALNTL52  GALNT42  GALNT162  GALNT112  
    Selected SIMAP similar genes for GALNT7 using alignment to 6 protein entries:     GALT7_HUMAN (see all proteins) (see all similar genes):
    GALNTL6    GALNTL5    GALNT15    GALNT3    GALNT14    GALNT1
    GALNT13    GALNT16    GALNT11    GALNT2    GalNAc-T16    WBSCR17
    GALNT6    GALNT10    GALNT19    GALNT4    GALNT12    GalNAc-T10

    Find genes that share paralogs with GALNT7           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GALNT7 (see all 2888)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs670283201,2
    C--173905464(+) TTTTT-/TT/TTT
            
    ATCAG
    2 -- int1 cds12NA 4
    rs729945561,2
    C,F--174087952(+) ACACAA/CAAAAA 1 -- us2k14Minor allele frequency- C:0.09WA NA 242
    rs1160309941,2
    F--174088170(+) TCCGGA/TACCAT 1 -- us2k11Minor allele frequency- T:0.07WA 118
    rs1824825071,2
    --174088209(+) TTTTGC/TGGAAA 1 -- us2k10--------
    rs763351761,2
    C--174088270(+) GCCAAG/TCCAAA 1 -- us2k10--------
    rs23326541,2
    C,F,A--174088399(+) CAGTAT/CGAGAA 1 -- us2k111Minor allele frequency- C:0.36NA WA CSA EA 373
    rs119382171,2
    C,F,H--174088536(+) gcaacC/Accgtg 1 -- us2k11Minor allele frequency- A:0.50NA 4
    rs119382241,2
    C,F,H--174088563(+) aaaatA/Ccaaaa 1 -- us2k11Minor allele frequency- C:0.33NA 6
    rs1467370641,2
    C--174088565(+) AATAC-/AAAAAAA 1 -- us2k11Minor allele frequency- AA:0.00CSA 2
    rs1128450671,2
    C--174088588(+) CTGGGC/TGTGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GALNT7 (174089904 - 174245118 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for GALNT7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv267455CNV Insertion20981092
    esv272207CNV Insertion20981092
    esv24067CNV Loss19812545
    nsv4610CNV Loss18451855
    nsv518900CNV Gain19592680
    nsv527434CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GALNT7
    DNA2.0 Custom Variant and Variant Library Synthesis for GALNT7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605005    OMIM disorders: --


    Find genes that share disorders with GALNT7           About GenesLikeMe


    Export disorders for GALNT7 gene to outside databases

    (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)
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    PubMed articles for GALNT7 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with GALNT7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human UDP-N-acetyl-D-galactosamine;polypeptide N- acetylgalactosaminyltransferase, GalNAc-T7, with specificity for partial GalNAc-glycosylated acceptor substrates. (PubMed id 10544240)1, 2, 3 Bennett E.P.... Clausen H. (FEBS Lett. 1999)
    2. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    3. 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. (Genome Res. 2004)
    4. MicroRNA miR-378 regulates nephronectin expression modulating osteoblast differentiation by targeting GalNT-7. (PubMed id 19844573)1, 9 Kahai S....Yang B.B. (PLoS ONE 2009)
    5. MicroRNA-214 suppresses growth and invasiveness of cervical cancer cells by targeting UDP-N-acetyl-I+-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7. (PubMed id 22399294)1 Peng R.Q....Tang H. (J. Biol. Chem. 2012)
    6. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    9. miR-30b/30d regulation of GalNAc transferases enhances invasion and immunosuppression during metastasis. (PubMed id 21741600)1 Gaziel-Sovran A....Hernando E. (Cancer Cell 2011)
    10. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51809 HGNC: 4129 AceView: GALNT7 Ensembl:ENSG00000109586 euGenes: HUgn51809
    ECgene: GALNT7 Kegg: 51809 H-InvDB: GALNT7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GALNT7 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GALNT7
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_489

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GALNT7 gene:
    Search GeneIP for patents involving GALNT7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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