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IGFBP7 Gene

protein-coding   GIFtS: 68
GCID: GC04M057897

Insulin-Like Growth Factor Binding Protein 7

  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
Insulin-Like Growth Factor Binding Protein 71 2     PGI2-Stimulating Factor2 3
MAC252 3 5     RAMSVPS2 5
Prostacyclin-Stimulating Factor2 3     AGM2
Tumor-Derived Adhesion Factor2 3     FSTL22
IBP-72 3     IGFBP-7v2
IGFBP-72 3     IGFBPRP12
IGFBP-rP12 3     angiomodulin2
PSF2 3     Insulin-Like Growth Factor-Binding Protein 72
TAF2 3     MAC25 Protein3
IGF-Binding Protein 72 3     

External Ids:    HGNC: 54761   Entrez Gene: 34902   Ensembl: ENSG000001634537   OMIM: 6028675   UniProtKB: Q162703   

Export aliases for IGFBP7 gene to outside databases

Previous GC identifers: GC04M057701 GC04M057893 GC04M057812 GC04M057738 GC04M057592 GC04M053850


(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 IGFBP7 Gene:
This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind
IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its
receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of
low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced
transcript variants encoding different isoforms have been described for this gene, and one variant has been
associated with retinal arterial macroaneurysm (PMID:21835307). (provided by RefSeq, Dec 2011)

GeneCards Summary for IGFBP7 Gene:
IGFBP7 (insulin-like growth factor binding protein 7) is a protein-coding gene. Diseases associated with IGFBP7 include retinal arterial macroaneurysm with supravalvular pulmonic stenosis, and diabetic angiopathy. GO annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is KAZALD1.

UniProtKB/Swiss-Prot: IBP7_HUMAN, Q16270
Function: Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production.
Stimulates cell adhesion

Gene Wiki entry for IGFBP7 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_000004.12  NC_018915.2  NT_022853.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the IGFBP7 gene promoter:
         Spz1   Pax-5   AML1a   FOXF2   STAT5A   IRF-1   FOXO4   ATF   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIGFBP7 promoter sequence
   Search Chromatin IP Primers for IGFBP7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IGFBP7


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

IGFBP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGFBP7 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M057897:  view genomic region     (about GC identifiers)

Start:
57,896,939 bp from pter      End:
57,976,551 bp from pter
Size:
79,613 bases      Orientation:
minus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IBP7_HUMAN, Q16270 (See protein sequence)
Recommended Name: Insulin-like growth factor-binding protein 7 precursor  
Size: 282 amino acids; 29130 Da
Subunit: May interact with VPS24/CHMP3; the relevance of such interaction however remains unclear
Rna editing: Modified_positions=78, 95; Note=Partially edited. In the brain, position 78 is edited at about 55%
and position 95 at about 31%
Secondary accessions: B4E1N2 B7Z9W7 Q07822 Q53YE6 Q9UCA8
Alternative splicing: 2 isoforms:  Q16270-1   Q16270-2   

Explore the universe of human proteins at neXtProt for IGFBP7: NX_Q16270

Explore proteomics data for IGFBP7 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn171, Thr206, Thr220, Thr230, Ser236, Thr264
  • Modification sites at PhosphoSitePlus

  • See IGFBP7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001240764.1  NP_001544.1  

    ENSEMBL proteins: 
     ENSP00000295666   ENSP00000444146  
    Reactome Protein details: Q16270

    IGFBP7 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for IGFBP7
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    Novus Biologicals IGFBP7 Protein
    Novus Biologicals IGFBP7 Lysate
    Sino Biological Recombinant Protein for IGFBP7
    Sino Biological Cell Lysate for IGFBP7
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    Cloud-Clone Corp. Proteins for IGFBP7

    IGFBP7 Antibody Products:

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    R&D Systems Antibodies for IGFBP7 (IGFBP-rp1/IGFBP-7)
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    LSBio Antibodies in human, mouse, rat for IGFBP7

    IGFBP7 Assay Products:

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    Cloud-Clone Corp. ELISAs for IGFBP7
    Cloud-Clone Corp. CLIAs for IGFBP7


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ISET: Immunoglobulin superfamily / I-set domain containing

    Selected InterPro protein domains (see all 8):
     IPR002350 Kazal_dom
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR011390 IGFBP_rP_mac25
     IPR000867 IGFBP-like

    Graphical View of Domain Structure for InterPro Entry Q16270

    ProtoNet protein and cluster: Q16270

    3 Blocks protein domains:
    IPB003599 Immunoglobulin subtype
    IPB011497 Protease inhibitor
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: IBP7_HUMAN, Q16270
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 IGFBP N-terminal domain
    Similarity: Contains 1 Kazal-like domain


    IGFBP7 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: IBP7_HUMAN, Q16270
    Function: Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production.
    Stimulates cell adhesion

         Genatlas biochemistry entry for IGFBP7:
    insuline-like growth factor binding protein 7 (related protein 1),expressed in both in situ and invasive neoplasm
    and increased in senescent cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI9388210
    GO:0005520insulin-like growth factor binding IEA--
         
    IGFBP7 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for IGFBP7:
     Enable proliferation in B-Raf   Low eccentricity cells 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Igfbp7):
     no phenotypic analysis 

    IGFBP7 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IGFBP7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IGFBP7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IGFBP7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IGFBP7

    miRNA
    Products:
        
    miRTarBase miRNAs that target IGFBP7:
    hsa-mir-124-3p (MIRT022719), hsa-mir-1 (MIRT023758)

    Block miRNA regulation of human, mouse, rat IGFBP7 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate IGFBP7:
    hsa-miR-3674 hsa-miR-3935
    SwitchGear 3'UTR luciferase reporter plasmidIGFBP7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IGFBP7
    Predesigned siRNA for gene silencing in human, mouse, rat IGFBP7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for IGFBP7

    Clone
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    OriGene ORF clones in mouse, rat for IGFBP7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IGFBP7 (NM_001553)
    Sino Biological Human cDNA Clone for IGFBP7
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IGFBP7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGFBP7

    Cell Line
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    ESI BIO PureStem Progenitor for IGFBP7: 
    PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGFBP7


    (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
    IBP7_HUMAN, Q16270: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    golgi apparatus1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA--
    GO:0031012colocalizes with extracellular matrix IDA--

    IGFBP7 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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    SuperPaths for IGFBP7 About    
    See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular Senescence0.81
    Senescence-Associated Secretory Phenotype (SASP)0.57
    Cellular responses to stress0.81
    2Senescence and Autophagy
    Senescence and Autophagy

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for IGFBP7
        Senescence and Autophagy


    1 Reactome Pathway for IGFBP7
        Senescence-Associated Secretory Phenotype (SASP)



    IGFBP7 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IGFBP7: 
              Cancer PathwayFinder in human mouse rat
              Cellular Senescence in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IGFBP7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for IGFBP7 (Q162702, 3 ENSP000002956664) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGF1P050193, ENSP000003026654I2D: score=3 STRING: ENSP00000302665
    JUNP054123, ENSP000003602664I2D: score=1 STRING: ENSP00000360266
    CHMP3Q9Y3E73, ENSP000002638564I2D: score=2 STRING: ENSP00000263856
    INHBAP084763, ENSP000002422084I2D: score=1 STRING: ENSP00000242208
    SDC1P188273, ENSP000002543514I2D: score=2 STRING: ENSP00000254351
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth IEA--
    GO:0007155cell adhesion IDA8117260
    GO:0007566embryo implantation IEA--
    GO:0008285negative regulation of cell proliferation TAS8939990
    GO:0009408response to heat IEA--

    IGFBP7 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 IGFBP7 (IBP7)

    2 DrugBank Compounds for IGFBP7    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin, porcine-- 9004-14-2target--11089538 17475416 17016423 10383131 17139284
    Insulin Regular -- 11061-68-0target--17139284 17016423

    9 Novoseek inferred chemical compound relationships for IGFBP7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 66.9 3 19094461 (1), 17236181 (1), 19638426 (1)
    prostacyclin 63.4 25 8435236 (3), 7980422 (3), 1837513 (3), 8982858 (2) (see all 12)
    agar 35 2 10344746 (1), 17465992 (1)
    txb2 20.9 1 1837513 (1)
    retinoic acid 19 9 7538673 (2), 11295114 (1), 11089538 (1)
    vegf 4.13 2 19374835 (2)
    serine 4.03 1 16420484 (1)
    glucose 0 10 15027891 (3), 9313760 (3), 16873698 (1)
    estrogen 0 5 17545519 (1), 11429696 (1)



    IGFBP7 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IGFBP7 gene (2 alternative transcripts): 
    NM_001253835.1  NM_001553.2  

    Unigene Cluster for IGFBP7:

    Insulin-like growth factor binding protein 7
    Hs.479808  [show with all ESTs]
    Unigene Representative Sequence: BX648756
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000512512 ENST00000295666(uc003hcn.3) ENST00000514062 ENST00000537922(uc011cag.2)

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate IGFBP7:
    hsa-miR-3674 hsa-miR-3935
    SwitchGear 3'UTR luciferase reporter plasmidIGFBP7 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IGFBP7
    Clone
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    GenScript: all cDNA clones in your preferred vector: IGFBP7 (NM_001553)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat IGFBP7
      QuantiFast Probe-based Assays in human, mouse, rat IGFBP7

    Additional mRNA sequence: 

    AK303915.1 AK316082.1 BC017201.2 BC066339.1 BT006654.1 BX648756.1 L19182.1 S75725.1 

    Selected DOTS entries (see all 30):

    DT.95170564  DT.92040454  DT.97760173  DT.40205446  DT.100045783  DT.95170547  DT.95170563  DT.100674865 
    DT.91955903  DT.100674866  DT.121637242  DT.451262  DT.95170568  DT.100674872  DT.121219229  DT.65285131 
    DT.92413462  DT.95104371  DT.121219282  DT.121219324  DT.121219395  DT.121219400  DT.91980279  DT.95170566 

    Selected AceView cDNA sequences (see all 688):

    BU727828 BU679023 W72118 BU790433 AI884577 BE045839 AW264720 AW511892 
    AW780286 W77779 AA550957 BE720362 CD677564 AI753930 CN481359 S75725 
    AA304375 AI473508 CD679288 AI590374 AI274795 BU688318 AI270605 T60085 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for IGFBP7    About this scheme

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


    ECgene alternative splicing isoforms for IGFBP7

    (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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    IGFBP7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATATCATTA
    IGFBP7 Expression
    About this image


    IGFBP7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 27) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Pre-Sertoli Cells Testis Cord
             Seminiferous Tubules
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Natural Killer Cells Peripheral Blood
             Bone marrow-derived hematopoietic stem cells (family)
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Mature Mesothelial Cells Hepatic Mesenchyme
             Hepatocyte-like cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
    IGFBP7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IGFBP7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.479808
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IGFBP7: 
              Cancer PathwayFinder in human mouse rat
              Cellular Senescence in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for IGFBP7
    OriGene qSTAR qPCR primer pairs in human, mouse for IGFBP7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IGFBP7
    QuantiTect SYBR Green Assays in human, mouse, rat IGFBP7
    QuantiFast Probe-based Assays in human, mouse, rat IGFBP7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGFBP7

    (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 chordates.

    Orthologs for IGFBP7 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Igfbp71 , 5 insulin-like growth factor binding protein 71, 5 91.04(n)1
    90.91(a)1
      5 (41.71 cM)5
    298171  NM_008048.31  NP_032074.31 
     773492405 
    chicken
    (Gallus gallus)
    Aves IGFBP71 insulin-like growth factor binding protein 7 76.76(n)
    78.49(a)
      422620  XM_420577.4  XP_420577.3 
    lizard
    (Anolis carolinensis)
    Reptilia IGFBP76
    insulin-like growth factor binding protein 7
    82(a)
    1 ↔ 1
    GL343257.1(1872867-1880497)
    zebrafish
    (Danio rerio)
    Actinopterygii igfbp71 insulin-like growth factor binding protein 7 61.02(n)
    58.05(a)
      405860  NM_212924.2  NP_998089.1 


    ENSEMBL Gene Tree for IGFBP7 (if available)
    TreeFam Gene Tree for IGFBP7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IGFBP7 gene
    KAZALD12  IGFBPL12  
    2 SIMAP similar genes for IGFBP7 using alignment to 1 protein entry:     IBP7_HUMAN:
    IGFBPL1    KAZALD1

    IGFBP7 for paralogs           About GeneDecksing



    (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 IGFBP7 (see all 1903)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1888421921,2
    --53853801(+) AAAAAA/CAAAAA 2 -- int10--------
    rs2016293931,2
    C--53859736(-) AAAAAA/GAAAAA 2 -- int10--------
    rs105930931,2
    C--53874110(+) GAATT-/AA    
       
    /CTAA
    GCAAT
    2 -- int11NA 2
    rs114517681,2
    C--53888813(+) ACCCA-/GC    
       CAT
    /T
    TAAGC
    2 -- int10--------
    rs106599601,2
    C--53892423(+) GCCTATAAA    
       GGT
    /-
    GCCAC
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs720115101,2
    C--53892424(+) CCTAG-/TA    
       AAGGT
    CCACC
    2 -- int10--------
    rs113386721,2
    C,F--53895215(+) CCCCTG/-CAGGA 2 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs1415405301,2
    C--53895215(+) CCCCTC/G/TCAGGA 2 -- int10--------
    rs752201961,2
    --53895414(+) AACATA/TAAAAA 2 -- int10--------
    rs3704908561,2
    C--53896899(+) AAAAA-/ACAAAA 2 -- int11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for IGFBP7 (57896939 - 57976551 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for IGFBP7: --
    Human Gene Mutation Database (HGMD): IGFBP7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IGFBP7
    DNA2.0 Custom Variant and Variant Library Synthesis for IGFBP7

    (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.)
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    OMIM gene information: 602867   
    OMIM disorders: 614224  
    UniProtKB/Swiss-Prot: IBP7_HUMAN, Q16270
  • Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) [MIM:614224]: An autosomal
    recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial
    trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic
    stenosis, often requiring surgical correction. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for IGFBP7 (see all 46):    
    About MalaCards
    retinal arterial macroaneurysm with supravalvular pulmonic stenosis    diabetic angiopathy    pulmonic stenosis    cerebral aneurysms
    bladder carcinoma    ductal carcinoma in situ    meningioma    retinitis
    teratocarcinoma    age related macular degeneration    insulin resistance    colorectal cancer
    vascular disease    pancreatic ductal adenocarcinoma    acute leukemia    diabetes mellitus
    osteoarthritis    sinusitis    endometriosis    myocardial infarction


    IGFBP7 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for IGFBP7 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetic angiopathies 56.9 2 8674874 (2)
    bladder carcinoma 36.7 2 17465992 (1), 14521955 (1)
    tumors 32.3 45 17136345 (4), 11429696 (4), 10344746 (2), 18701096 (2) (see all 21)
    colon cancer 29.8 5 18981723 (1), 17334979 (1), 17465992 (1), 9605951 (1)
    colorectal cancer 29.4 14 19094461 (6), 18701096 (3), 15027891 (2), 17136345 (1) (see all 5)
    prostate cancer 28.5 22 14633696 (6), 10344746 (3), 10383131 (3), 9851777 (1) (see all 7)
    benign prostatic hyperplasia 21.4 1 14633696 (1)
    breast cancer 19.3 12 17634530 (4), 15979304 (2), 11295114 (1), 9449045 (1) (see all 7)
    cancer 16.8 13 15027891 (4), 8939990 (1), 11295114 (1), 11400113 (1) (see all 8)
    meningioma 11 2 11089538 (1), 7538673 (1)

    Genetic Association Database (GAD): IGFBP7
    Human Genome Epidemiology (HuGE) Navigator: IGFBP7 (3 documents)

    Export disorders for IGFBP7 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 IGFBP7 gene, integrated from 10 sources (see all 158):
    (articles sorted by number of sources associating them with IGFBP7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification and molecular cloning of prostacyclin-stimulating factor from serum-free conditioned medium of human diploid fibroblast cells. (PubMed id 7980422)1, 2, 3, 9 Yamauchi T.... Nawata H. (Biochem. J. 1994)
    2. Identification and characterization of genes differentially expressed in meningiomas. (PubMed id 7694637)1, 2, 3 Murphy M.... George D.L. (Cell Growth Differ. 1993)
    3. Synthesis and characterization of insulin-like growth factor-binding protein (IGFBP)-7. Recombinant human mac25 protein specifically binds IGF-I and -II. (PubMed id 8939990)1, 2, 9 Oh Y....Rosenfeld R.G. (J. Biol. Chem. 1996)
    4. Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms. (PubMed id 21835307)1, 2 Abu-Safieh L.... Alkuraya F.S. (Am. J. Hum. Genet. 2011)
    5. The functional IGFBP7 promoter -418G&gt;A polymorphism and risk of head and neck cancer. (PubMed id 20599521)1, 4 Huang Y.J....Wei Q. (Mutat. Res. 2010)
    6. Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q. (PubMed id 15708897)1, 4 Kawahara C....Loughlin J. (Ann. Rheum. Dis. 2005)
    7. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    8. 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)
    9. Interaction of IGF-binding protein-related protein 1 with a novel protein, neuroendocrine differentiation factor, results in neuroendocrine differentiation of prostate cancer cells. (PubMed id 11549700)1, 2 Wilson E.M.... Rosenfeld R.G. (J. Clin. Endocrinol. Metab. 2001)
    10. Cell adhesion activity of a 30-kDa major secreted protein from human bladder carcinoma cells. (PubMed id 8117260)1, 2 Akaogi K.... Miyazaki K. (Biochem. Biophys. Res. Commun. 1994)

    (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: 3490 HGNC: 5476 AceView: IGFBP7 Ensembl:ENSG00000163453 euGenes: HUgn3490
    ECgene: IGFBP7 H-InvDB: IGFBP7

    (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 IGFBP7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IGFBP7 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/igfbp7/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IGFBP7 gene:
    Search GeneIP for patents involving IGFBP7

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



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