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

ST6GALNAC4 Gene

protein-coding   GIFtS: 56
GCID: GC09M130671

ST6 (Alpha-N-Acetyl-Neuraminyl-2,3-Beta-Galactosyl-1,3)-N-Acetylgalactosaminide...

(Previous name: sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl...)
(Previous symbol: SIAT7D)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ST6
(Alpha-N-Acetyl-Neuraminyl-2,3-Beta-Galactosyl-1,3)-N-Acetylgalactosaminide
Alpha-2,6-Sialyltransferase 41 2
     ST6GALNACIV2
SIAT7D1 2 3 5     ST6GalNAc2
SIAT3C2 3 5     Alpha-N-Acetyl-Neuraminyl-2,3-Beta-Galactosyl-1,3-N-Acetyl-Galactosaminide
Alpha-2,6-Sialyltransferase2
Sialyltransferase 7D
((Alpha-N-Acetylneuraminyl-2,3-Beta-Galactosyl-1,3)-N-Acetyl
Galactosaminide Alpha-2,6-Sialyltransferase)1 2
     NeuAc-Alpha-2,3-Gal-Beta-1,3-GalNAc-Alpha-2, 6-Sialyltransferase
Alpha2,6-Sialyltransferase2
Sialyltransferase 3C2 3     NeuAc-Alpha-2,3-Gal-Beta-1,3-GalNAc-Alpha-2,6-Sialyltransferase IV2
SIAT3-C2 3     ST6
Neuraminyl-2,3-Beta-Galactosyl-1,3)-N-Acetylgalactosaminidealpha-2,6-Sialyltransferase
42
SIAT7-D2 3     NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase3
ST6GalNAc IV2 3     ST6GalNAcIV3
EC 2.4.99.73 8     Sialyltransferase 7D3
IV2     EC 2.4.998

External Ids:    HGNC: 178461   Entrez Gene: 270902   Ensembl: ENSG000001368407   OMIM: 6063785   UniProtKB: Q9H4F13   

Export aliases for ST6GALNAC4 gene to outside databases

Previous GC identifers: GC09M127751 GC09M129709 GC09M100287


(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 ST6GALNAC4 Gene:
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from
CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than
glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence
Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B.
The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble
form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ST6GALNAC4 Gene: 
ST6GALNAC4 (ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4) is a protein-coding gene. Diseases associated with ST6GALNAC4 include intrahepatic cholangiocarcinoma, and cholangiocarcinoma, and among its related super-pathways are Mucin type O-Glycan biosynthesis and Post-translational protein modification. GO annotations related to this gene include (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity and sialyltransferase activity. An important paralog of this gene is ST6GALNAC3.

UniProtKB/Swiss-Prot: SIA7D_HUMAN, Q9H4F1
Function: Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an
alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids.
Prefers glycoproteins to glycolipids (By similarity)

Gene Wiki entry for ST6GALNAC4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ST6GALNAC4 gene promoter:
         XBP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidST6GALNAC4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ST6GALNAC4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ST6GALNAC4


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

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34

ST6GALNAC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ST6GALNAC4 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M130671:  view genomic region     (about GC identifiers)

Start:
130,670,165 bp from pter      End:
130,679,317 bp from pter
Size:
9,153 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SIA7D_HUMAN, Q9H4F1 (See protein sequence)
Recommended Name: Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide
alpha-2,6-sialyltransferase  
Size: 302 amino acids; 34201 Da
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
Secondary accessions: Q5T9D0 Q9NWU6 Q9UKU1 Q9ULB9 Q9Y3G3 Q9Y3G4

Explore the universe of human proteins at neXtProt for ST6GALNAC4: NX_Q9H4F1

Explore proteomics data for ST6GALNAC4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H4F1

  • 4/5 DME Specific Peptides for ST6GALNAC4 (Q9H4F1) (see all 5)
     HRFITEK  GFEADVG  LSTGWFT  SHTSVPLLL 

    ST6GALNAC4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ST6GALNAC4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_778204.1  NP_778205.1  

    ENSEMBL proteins: 
     ENSP00000336733   ENSP00000355130   ENSP00000340382  
    Reactome Protein details: Q9H4F1
    Human Recombinant Protein Products for ST6GALNAC4: 
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    Novus Biologicals ST6GALNAC4 Proteins
    Novus Biologicals ST6GALNAC4 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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:0005634nucleus IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0016021integral to membrane IEA--

    ST6GALNAC4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ST3G: Sialyltransferases

    1 InterPro protein domain:
     IPR001675 Glyco_trans_29

    Graphical View of Domain Structure for InterPro Entry Q9H4F1

    ProtoNet protein and cluster: Q9H4F1

    1 Blocks protein domain: IPB001675 Glycosyl transferase

    UniProtKB/Swiss-Prot: SIA7D_HUMAN, Q9H4F1
    Similarity: Belongs to the glycosyltransferase 29 family


    ST6GALNAC4 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SIA7D_HUMAN, Q9H4F1
    Function: Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an
    alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids.
    Prefers glycoproteins to glycolipids (By similarity)
    Catalytic activity: CMP-N-acetylneuraminate +
    N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->3)-N-acetyl-D-galactosaminyl-R = CMP +
    N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->3)-(N-acetyl-alpha-neuraminyl-(2->6))-N-acetyl-D-galactosaminyl-R

         Enzyme Numbers (IUBMB): EC 2.4.99.71 2 EC 2.4.992

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008373sialyltransferase activity TAS10207017
    GO:0047290(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity IEA--
         
    ST6GALNAC4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ST6GALNAC4:
     Increased G2M DNA content 

         1 MGI phenotypic allele for St6galnac4 (no phenotypes)

    ST6GALNAC4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out St6galnac4tm1.1Cfg for ST6GALNAC4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ST6GALNAC4 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidST6GALNAC4 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ST6GALNAC4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.44
    Termination of O-glycan biosynthesis0.41
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    3Ganglio Sphingolipid Metabolism
    Glycosphingolipid biosynthesis - ganglio series0.53
    4Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for ST6GALNAC4
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification
    Termination of O-glycan biosynthesis


    2         Kegg Pathways  (Kegg details for ST6GALNAC4):
        Glycosphingolipid biosynthesis - ganglio series
    Metabolic pathways

    UniProtKB/Swiss-Prot: SIA7D_HUMAN, Q9H4F1
    Pathway: Protein modification; protein glycosylation


    ST6GALNAC4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ST6GALNAC4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/20 Interacting proteins for ST6GALNAC4 (ENSP000003367334) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC15ENSP000004167534STRING: ENSP00000416753
    ST3GAL1ENSP000003184454STRING: ENSP00000318445
    ST3GAL2ENSP000003454774STRING: ENSP00000345477
    ST3GAL3ENSP000002629154STRING: ENSP00000262915
    ST3GAL4ENSP000002274954STRING: ENSP00000227495
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation ----
    GO:0006664glycolipid metabolic process TAS10207017
    GO:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    ST6GALNAC4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ST6GALNAC4 (SIA7D)

    2 HMDB Compounds for ST6GALNAC4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cytidine monophosphate5'-CMP (see all 14)63-37-6--
    Cytidine monophosphate N-acetylneuraminic acidCMP-N-acetylneuraminate (see all 6)22-12-8--

    Search CenterWatch for drugs/clinical trials and news about ST6GALNAC4 / SIA7D

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ST6GALNAC4 gene (3 alternative transcripts): 
    NM_175039.3  NM_175040.3  NM_014403.3  

    Unigene Cluster for ST6GALNAC4:

    ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
    Hs.3972  [show with all ESTs]
    Unigene Representative Sequence: NM_175039
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335791(uc004bss.3 uc004bst.3) ENST00000495983 ENST00000474282
    ENST00000467674 ENST00000361444 ENST00000483438 ENST00000479747 ENST00000343609

    miRNA
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    Additional mRNA sequence: 

    AB035172.1 AK292049.1 BC036705.2 

    12 DOTS entries:

    DT.97845635  DT.75151056  DT.121209804  DT.100670537  DT.121209921  DT.102823487  DT.121209922  DT.91748645 
    DT.100670536  DT.95117741  DT.121209949  DT.86851844 

    24/261 AceView cDNA sequences (see all 261):

    AI199928 BE855512 BQ186217 CA841269 CA868287 AI279392 BQ777922 AI206008 
    BQ674675 BG685141 AW170621 BM724838 CA868041 CA868280 BG684077 AB035172 
    CA868035 BG757628 AI609041 BG684430 AI277264 AW298310 AW968567 AI346157 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ST6GALNAC4 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
    SP1:                    -                             -                           
    SP2:                    -                 -     -     -                           
    SP3:              -     -                                                         
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for ST6GALNAC4

    (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

    ST6GALNAC4 expression in normal human tissues (normalized intensities)      ST6GALNAC4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ST6GALNAC4 Expression
    About this image


    ST6GALNAC4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/29 selected tissues (see all 29) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             brain/midbrain   
     
     Blood (Cardiovascular System)    fully expand to see all 4 entries
             umbilical cord reticulocytes   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
             kidney ; cells in tubules   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon

    See ST6GALNAC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ST6GALNAC4

    SOURCE GeneReport for Unigene cluster: Hs.3972

    UniProtKB/Swiss-Prot: SIA7D_HUMAN, Q9H4F1
    Tissue specificity: Ubiquitous

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    (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 ST6GALNAC4 gene from 5/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia St6galnac41 , 5 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 less1, 5 85.98(n)1
    89.07(a)1
      2 (22.09 cM)5
    204481  NM_011373.21  NP_035503.11 
     325870955 
    chicken
    (Gallus gallus)
    Aves ST6GALNAC41 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 less 73.03(n)
    68.2(a)
      395182  NM_204511.1  NP_989842.1 
    lizard
    (Anolis carolinensis)
    Reptilia ST6GALNAC46
    Uncharacterized protein
    62(a)
    1 ↔ 1
    AAWZ02040038(1009-2636)
    zebrafish
    (Danio rerio)
    Actinopterygii st6galnac41 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 less 61.59(n)
    55.65(a)
      751653  NM_001045370.1  NP_001038835.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ST6Gal6
    Sialyltransferase
    12(a)
    1 → many
    2R(20578945-20581909)


    ENSEMBL Gene Tree for ST6GALNAC4 (if available)
    TreeFam Gene Tree for ST6GALNAC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ST6GALNAC4 gene
    ST6GALNAC32  ST6GAL22  ST6GALNAC52  ST6GAL12  ST6GALNAC62  
    3 SIMAP similar genes for ST6GALNAC4 using alignment to 3 protein entries:     SIA7D_HUMAN (see all proteins):
    ST6GALNAC3    ST6GALNAC5    ST6GALNAC6

    ST6GALNAC4 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ST6GALNAC4
    PGOHUM00000248313 PGOHUM00000236773


    (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) 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)
    About This Section

    10/266 SNPs in ST6GALNAC4 are shown (see all 266)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1818893521,2
    --130683034(+) CGGGCA/GCGGTG 2 -- ds50010--------
    rs1382670821,2
    C--130683073(+) GAGGCC/TGAGGC 2 -- ds50010--------
    rs1862490281,2
    --130683147(+) TACTAA/GAAATA 2 -- ds50010--------
    rs1418425771,2
    --130683159(+) AAAAAA/CTTAGC 2 -- ds50010--------
    rs1906632631,2
    --130683173(+) GCGTGG/TTGGCA 2 -- ds50010--------
    rs78752201,2
    C,H--130683287(+) CCTGGG/ACAATA 2 -- ds500110Minor allele frequency- A:0.01NA WA CSA EA 138
    rs107605101,2
    C,F,A,H--130683336(+) GGGACC/TGTGAC 2 -- ds500123Minor allele frequency- T:0.11NS EA NA WA CSA 1646
    rs736064891,2
    C--130683419(+) ACACAC/TGTTTA 2 -- ut312Minor allele frequency- T:0.06WA 120
    rs1506831621,2
    C--130683448(+) GGCCCC/TGGCAG 2 -- ut310--------
    rs10430261,2
    C,F,H--130683551(-) GCCGCC/G/TCCTAC 4 -- ut31 ese314MN NA WA CSA EA 560

    HapMap Linkage Disequilibrium report for ST6GALNAC4 (130670165 - 130679317 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for ST6GALNAC4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2739055CNV Deletion23290073
    nsv6722CNV Insertion18451855
    dgv8291n71CNV Loss21882294
    dgv8290n71CNV Loss21882294
    nsv893865CNV Loss21882294
    nsv466577CNV Loss19166990
    dgv8287n71CNV Loss21882294
    dgv8293n71CNV Loss21882294
    nsv893859CNV Loss21882294
    nsv893860CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606378    OMIM disorders: --

    3 diseases for ST6GALNAC4:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma    neuronitis


    ST6GALNAC4 for disorders           About GeneDecksing


    Export disorders for ST6GALNAC4 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)
    About This Section

    PubMed articles for ST6GALNAC4 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with ST6GALNAC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression and gene organization of a human Neu5Ac alpha 2- 3Gal beta 1-3GalNAc alpha 2,6-sialyltransferase: hST6GalNAcIV. (PubMed id 11062056)1, 2, 3, 9 Harduin-Lepers A....Delannoy P. (2000)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Molecular cloning and functional expression of two members of mouse NeuAcalpha2,3Galbeta1,3GalNAc GalNAcalpha2,6-sialyltransferase family, ST6GalNAc III and IV. (PubMed id 10207017)1, 3 Lee Y.C....Tsuji S. (1999)
    5. Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes. (PubMed id 10369878)1, 2 Gilley J. and Fried M. (1999)
    6. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
    7. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    8. Identification of gangliosides recognized by IgG anti-GalNAc-GD1a antibodies in bovine spinal motor neurons and motor nerves. (PubMed id 18598683)1 Yoshino H....Miyatake T. (2008)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    10. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 27090 HGNC: 17846 AceView: SIAT7D Ensembl:ENSG00000136840 euGenes: HUgn27090
    ECgene: ST6GALNAC4 Kegg: 27090 H-InvDB: ST6GALNAC4

    (According to HUGE)
    About This Section
      --

    (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 ST6GALNAC4 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST6GALNAC4
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_633

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ST6GALNAC4 gene:
    Search GeneIP for patents involving ST6GALNAC4

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



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