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AGGF1 Gene

protein-coding   GIFtS: 56
GCID: GC05P076362

Angiogenic Factor With G Patch And FHA Domains 1

  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)
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Aliases
Angiogenic Factor With G Patch And FHA Domains 11 2     G Patch Domain-Containing Protein 72 3
VG5Q2 3 5     HUS849712 5
Angiogenic Factor VG5Q2 3     HSU849712
Vasculogenesis Gene On 5q Protein2 3     hVG5Q3
GPATC72 3     FLJ102835
GPATCH72 3     

External Ids:    HGNC: 246841   Entrez Gene: 551092   Ensembl: ENSG000001642527   OMIM: 6084645   UniProtKB: Q8N3023   

Export aliases for AGGF1 gene to outside databases

Previous GC identifer: GC05P071532


(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 AGGF1 Gene:
This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene
are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on
chromosomes 3, 4, 10 and 16.(provided by RefSeq, Sep 2010)

GeneCards Summary for AGGF1 Gene:
AGGF1 (angiogenic factor with G patch and FHA domains 1) is a protein-coding gene. Diseases associated with AGGF1 include klippel-trenaunay syndrome, and proteus syndrome. GO annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302
Function: Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and
promote cell proliferation, suggesting that it may act in an autocrine fashion

Gene Wiki entry for AGGF1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the AGGF1 gene promoter:
         AML1a   Pax-5   Nkx2-5   C/EBPalpha   HNF-1A   HEN1   POU2F1   POU2F1a   HNF-1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGGF1 promoter sequence
   Search Chromatin IP Primers for AGGF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AGGF1


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

Entrez Gene cytogenetic band: 5q13.3   Ensembl cytogenetic band:  5q13.3   HGNC cytogenetic band: 5q13.3

AGGF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGGF1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P076362:  view genomic region     (about GC identifiers)

Start:
76,325,076 bp from pter      End:
76,361,059 bp from pter
Size:
35,984 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302 (See protein sequence)
Recommended Name: Angiogenic factor with G patch and FHA domains 1  
Size: 714 amino acids; 80977 Da
Subunit: Interacts with the secreted angiogenic factor TNFSF12
Sequence caution: Sequence=AAH29382.2; Type=Erroneous termination; Positions=708; Note=Translated as Trp;
Sequence=BAA91519.1; Type=Erroneous initiation;
Secondary accessions: O00581 Q53YS3 Q9BU84 Q9NW66
Alternative splicing: 3 isoforms:  Q8N302-1   Q8N302-2   Q8N302-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AGGF1: NX_Q8N302

Explore proteomics data for AGGF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AGGF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060516.2  
    ENSEMBL proteins: 
     ENSP00000316109   ENSP00000420874   ENSP00000424733  

    AGGF1 Human Recombinant Protein Products:

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    Novus Biologicals AGGF1 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for AGGF1

    AGGF1 Antibody Products:

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    Cloud-Clone Corp. ELISAs for AGGF1
    Cloud-Clone Corp. CLIAs for AGGF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GPATCH: G patch domain containing

    3 InterPro protein domains:
     IPR008984 SMAD_FHA_domain
     IPR000467 G_patch_dom
     IPR000253 FHA_dom

    Graphical View of Domain Structure for InterPro Entry Q8N302

    ProtoNet protein and cluster: Q8N302

    2 Blocks protein domains:
    IPB000253 Forkhead-associated (FHA)
    IPB000467 D111/G-patch domain


    UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302
    Similarity: Contains 1 FHA domain
    Similarity: Contains 1 G-patch domain


    AGGF1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AGGF1_HUMAN, Q8N302
    Function: Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and
    promote cell proliferation, suggesting that it may act in an autocrine fashion

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0005515protein binding IPI14961121
         
    AGGF1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for AGGF1:
     Proliferating cells  Wnt reporter downregulated 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AGGF1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AGGF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AGGF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target AGGF1:
    hsa-mir-30a-3p (MIRT049919), hsa-mir-21-5p (MIRT030831), hsa-mir-148b-3p (MIRT019345), hsa-mir-877-3p (MIRT037003)

    Block miRNA regulation of human, mouse, rat AGGF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AGGF1 (see all 33):
    hsa-miR-4317 hsa-miR-513a-5p hsa-miR-25 hsa-miR-570 hsa-miR-10b* hsa-miR-374a* hsa-miR-330-3p hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidAGGF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AGGF1
    Predesigned siRNA for gene silencing in human, mouse, rat AGGF1

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AGGF1 (NM_018046)
    Sino Biological Human cDNA Clone for AGGF1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AGGF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGGF1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGGF1


    (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
    AGGF1_HUMAN, Q8N302: Cytoplasm. Secreted. Note=Cytoplasmic in microvascular endothelial cells. Upon angiogenesis,
    when endothelial cell tube formation is initiated, it is secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus3
    cytosol2
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA14961121
    GO:0005737cytoplasm IDA14961121
    GO:0048471perinuclear region of cytoplasm IDA14961121

    AGGF1 for ontologies           About GeneDecksing


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including AGGF1: 
              Angiogenic Growth Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AGGF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for AGGF1 (Q8N3022, 3 ENSP000003161094) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLOC1S6Q9UL452, 3, ENSP000002205314MINT-67560 I2D: score=5 STRING: ENSP00000220531
    CCDC85BQ158342, 3, ENSP000003116954MINT-67162 I2D: score=5 STRING: ENSP00000311695
    SF3A2Q154282, 3, ENSP000002214944MINT-5206295 I2D: score=1 STRING: ENSP00000221494
    CHMP243863, ENSP000003503864I2D: score=1 STRING: ENSP00000350386
    RAE1P784063, ENSP000003602864I2D: score=1 STRING: ENSP00000360286
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0001570vasculogenesis TAS15905966
    GO:0001938positive regulation of endothelial cell proliferation IDA14961121
    GO:0006396RNA processing TAS15486042
    GO:0007155cell adhesion IDA14961121

    AGGF1 for ontologies           About GeneDecksing



    (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 AGGF1



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AGGF1 gene: 
    NM_018046.4  

    Unigene Cluster for AGGF1:

    Angiogenic factor with G patch and FHA domains 1
    Hs.634849  [show with all ESTs]
    Unigene Representative Sequence: NM_018046
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503538 ENST00000312916(uc003ket.3 uc003keu.1) ENST00000502408
    ENST00000506806(uc003kes.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat AGGF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AGGF1 (see all 33):
    hsa-miR-4317 hsa-miR-513a-5p hsa-miR-25 hsa-miR-570 hsa-miR-10b* hsa-miR-374a* hsa-miR-330-3p hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidAGGF1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for AGGF1
    Predesigned siRNA for gene silencing in human, mouse, rat AGGF1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AGGF1 (NM_018046)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AGGF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGGF1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for AGGF1
    OriGene qSTAR qPCR primer pairs in human, mouse for AGGF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AGGF1
      QuantiTect SYBR Green Assays in human, mouse, rat AGGF1
      QuantiFast Probe-based Assays in human, mouse, rat AGGF1

    Additional mRNA sequence: 

    AK001145.1 AK131377.1 AK289394.1 AY500994.1 BC002828.2 BC015478.1 BC029382.1 BC032844.1 
    BC073864.1 BX648120.1 U84971.1 

    11 DOTS entries:

    DT.92040980  DT.100775620  DT.97786645  DT.75131502  DT.100775621  DT.102828663  DT.308865  DT.120887337 
    DT.454597  DT.99938352  DT.99992984 

    Selected AceView cDNA sequences (see all 177):

    AA873721 U84971 BE674188 AI215746 AI089720 BQ084290 BE393942 BM745620 
    AI589413 AI433902 AI684006 F04377 AA553778 CB130693 CB241953 AA236887 
    AA455461 BE349978 AA548479 BM838386 BM998072 AW468326 Z41200 CA425733 

    GeneLoc Exon Structure


    (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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    AGGF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAGCAAAT
    AGGF1 Expression
    About this image

    AGGF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AGGF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.634849

    UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302
    Tissue specificity: Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and
    osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells

        Pathway & Disease-focused RT2 Profiler PCR Array including AGGF1: 
              Angiogenic Growth Factors in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGGF1

    (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 AGGF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aggf11 , 5 angiogenic factor with G patch and FHA domains 11, 5 79.25(n)1
    78.37(a)1
      13 (49.41 cM)5
    665491  NM_025630.31  NP_079906.21 
     953506835 
    chicken
    (Gallus gallus)
    Aves AGGF11 angiogenic factor with G patch and FHA domains 1 70.97(n)
    65.05(a)
      416364  XM_414679.4  XP_414679.3 
    lizard
    (Anolis carolinensis)
    Reptilia AGGF16
    angiogenic factor with G patch and FHA domains 1
    58(a)
    1 ↔ 1
    2(14036522-14054965)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.196372 Transcribed sequence with weak similarity to protein refNP_037435.1 (H.sapiens) fetal hypothetical protein [Homo sapiens] less 77.98(n)    BX781789.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.172562 Transcribed sequence with weak similarity to protein refNP_060516.1 (H.sapiens) hypothetical protein FLJ10283 [Homo sapiens] less 74.06(n)    AL911040.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG80796
    --
    30(a)
    1 ↔ 1
    2R(11105886-11111329)
    worm
    (Caenorhabditis elegans)
    Secernentea Y55D9A.26
    Protein Y55D9A.2, isoform b (Y55D9A.2) mRNA, compl...
    23(a)
    1 ↔ 1
    IV(12601128-12605425) WBGene00013224


    ENSEMBL Gene Tree for AGGF1 (if available)
    TreeFam Gene Tree for AGGF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AGGF1 gene

    AGGF1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for AGGF1 (see all 10)
    PGOHUM00000238971 PGOHUM00000248862 PGOHUM00000249103 PGOHUM00000249105 PGOHUM00000249107


    (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 AGGF1 (see all 738)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs342030731,2,,4
    C,FKlippel-Trenaunay syndrome (KTS)4 --76331449(+) CTATCG/AAAACT 2 /K /E mis14Minor allele frequency- A:0.01NA EU 5889
    rs767271211,2
    C,F--76324323(+) TACTTT/AGCCCT 1 -- us2k11Minor allele frequency- A:0.05EA 120
    rs1891597491,2
    --76324337(+) GTGATG/TAGGGC 1 -- us2k10--------
    rs1434975621,2
    --76324486(+) AGATGA/CCAGAG 1 -- us2k10--------
    rs1480155581,2
    --76324579(+) GCTGTA/GTTCAG 1 -- us2k10--------
    rs1819135001,2
    --76324605(+) CTCTGC/TGACAG 1 -- us2k10--------
    rs1177407291,2
    F--76324606(+) TCTGCG/AACAGG 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs176826611,2
    C,F,H--76324766(+) AAATAT/CTGGCA 1 -- us2k128Minor allele frequency- C:0.20NA NS EA 3210
    rs800719881,2
    F--76324880(+) CCAGGG/AATGCT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1138610341,2
    F--76324885(+) GATGCT/CCCTTT 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for AGGF1 (76325076 - 76361059 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for AGGF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830355CNV Gain17160897
    nsv882212CNV Gain21882294
    nsv823102CNV Gain20364138

    Human Gene Mutation Database (HGMD): AGGF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AGGF1
    DNA2.0 Custom Variant and Variant Library Synthesis for AGGF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608464    OMIM disorders: --

    UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302
  • Klippel-Trenaunay syndrome (KTS) [MIM:149000]: Congenital disease characterized by malformations of
    capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy
    that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for AGGF1:    About MalaCards
    klippel-trenaunay syndrome    proteus syndrome    vascular disease    endotheliitis
    neuroblastoma    multiple myeloma    myeloma    malaria

    3 diseases from the University of Copenhagen DISEASES database for AGGF1:
    Klippel-Trenaunay syndrome     Coats disease     Proteus syndrome

    AGGF1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for AGGF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    klippel-trenaunay syndrome 89.5 7 14961121 (1), 15905966 (1), 16443853 (1), 19556247 (1)
    vascular diseases 43.2 3 14961121 (1), 16443853 (1)

    Genetic Association Database (GAD): AGGF1
    Human Genome Epidemiology (HuGE) Navigator: AGGF1 (2 documents)

    Export disorders for AGGF1 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 AGGF1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with AGGF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. (PubMed id 17103452)1, 3, 4, 9 Gutierrez S....Lapunzina P. (Am. J. Med. Genet. A 2006)
    2. Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. (PubMed id 18564129)1, 3, 4 Hu Y....Wang Q.K. (Ann. Hum. Genet. 2008)
    3. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. (PubMed id 14961121)1, 2, 9 Tian X.-L.... Wang Q. (Nature 2004)
    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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Novel roles of GATA1 in regulation of angiogenic factor AGGF1 and endothelial cell function. (PubMed id 19556247)1, 9 Fan C....Wang Q.K. (J. Biol. Chem. 2009)
    7. Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? (PubMed id 16443853)1, 9 Barker K.T....Harper J. (J. Med. Genet. 2006)
    8. OCRE: a novel domain made of imperfect, aromatic-rich octamer repeats. (PubMed id 15486042)1, 9 Callebaut I. and Mornon J.P. (Bioinformatics 2005)
    9. Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis. (PubMed id 15905966)1, 9 Timur A.A....Wang Q. (Cell. Mol. Life Sci. 2005)
    10. AGGF1 is a novel anti-inflammatory factor associated with TNF-I+-induced endothelial activation. (PubMed id 23628701)1 Hu F.Y....Tian X.L. (Cell. Signal. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 55109 HGNC: 24684 AceView: VG5Q Ensembl:ENSG00000164252 euGenes: HUgn55109
    ECgene: AGGF1 H-InvDB: AGGF1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for AGGF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AGGF1 gene:
    Search GeneIP for patents involving AGGF1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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