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    IGFBP7 insulin like growth factor binding protein 7 [ Homo sapiens (human) ]

    Gene ID: 3490, updated on 3-Jun-2018
    Official Symbol
    IGFBP7provided by HGNC
    Official Full Name
    insulin like growth factor binding protein 7provided by HGNC
    Primary source
    HGNC:HGNC:5476
    See related
    Ensembl:ENSG00000163453 MIM:602867; Vega:OTTHUMG00000128772
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AGM; PSF; TAF; FSTL2; IBP-7; MAC25; IGFBP-7; RAMSVPS; IGFBP-7v; IGFBPRP1
    Summary
    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]
    Expression
    Broad expression in kidney (RPKM 607.4), gall bladder (RPKM 382.6) and 21 other tissues See more
    Orthologs
    See IGFBP7 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (57031071..57110385, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57897237..57976551, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene nitric oxide associated 1 Neighboring gene RNA polymerase II subunit B Neighboring gene RNA, U6 small nuclear 998, pseudogene Neighboring gene ubiquitin conjugating enzyme E2 C pseudogene 3 Neighboring gene IGFBP7 antisense RNA 1 Neighboring gene uncharacterized LOC107986283 Neighboring gene ribosomal protein S26 pseudogene 24

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
    MedGen: C3280205 OMIM: 614224 GeneReviews: Not available
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    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    insulin-like growth factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    embryo implantation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to cortisol IEA
    Inferred from Electronic Annotation
    more info
     
    response to heat IEA
    Inferred from Electronic Annotation
    more info
     
    response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    insulin-like growth factor-binding protein 7
    Names
    IGF-binding protein 7
    IGFBP-rP1
    PGI2-stimulating factor
    angiomodulin
    prostacyclin-stimulating factor
    tumor-derived adhesion factor

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031877.1 RefSeqGene

      Range
      5001..84315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001253835.1NP_001240764.1  insulin-like growth factor-binding protein 7 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001240764.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs at the 3' end, and lacks the 3' terminal exon compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1. Expression of this variant has been associated with retinal arterial macroaneurysm (PMID:21835307).
      Source sequence(s)
      AK303915
      Consensus CDS
      CCDS58900.1
      UniProtKB/Swiss-Prot
      Q16270
      Related
      ENSP00000486293.1, OTTHUMP00000278829, ENST00000514062.2, OTTHUMT00000362250
      Conserved Domains (3) summary
      smart00280
      Location:111156
      KAZAL; Kazal type serine protease inhibitors
      cl02472
      Location:3090
      IGFBP; Insulin-like growth factor binding protein
      cl28434
      Location:160265
      I-set; Immunoglobulin I-set domain
    2. NM_001553.2NP_001544.1  insulin-like growth factor-binding protein 7 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001544.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AI761388, BC066339
      Consensus CDS
      CCDS3512.1
      UniProtKB/Swiss-Prot
      Q16270
      Related
      ENSP00000295666.4, OTTHUMP00000158974, ENST00000295666.6, OTTHUMT00000250693
      Conserved Domains (3) summary
      smart00280
      Location:111156
      KAZAL; Kazal type serine protease inhibitors
      cl02472
      Location:3090
      IGFBP; Insulin-like growth factor binding protein
      cl28434
      Location:160265
      I-set; Immunoglobulin I-set domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      57031071..57110385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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