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

    Gene ID: 3490, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:5476
    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
    mouse all
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    Genomic context

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    See IGFBP7 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (57030773..57110385, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (60522210..60601772, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57896939..57976551, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900913 Neighboring gene RNA polymerase II subunit B Neighboring gene RNA, U6 small nuclear 998, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7637 Neighboring gene ubiquitin conjugating enzyme E2 C pseudogene 3 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15459 Neighboring gene IGFBP7 antisense RNA 1 Neighboring gene uncharacterized LOC107986283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58022957-58023466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58023467-58023975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58060229-58060730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58060731-58061230 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:58090676-58091410 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:58131975-58132531 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:58153017-58153564 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:58153565-58154110 Neighboring gene ribosomal protein S26 pseudogene 24

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Insulin-like growth factor binding protein-related protein 1 contributes to hepatic fibrogenesis. Guo XH, et al. J Dig Dis, 2014 Apr. PMID 24373620
    2. Insulin-like growth factor-binding protein-7 functions as a potential tumor suppressor in hepatocellular carcinoma. Chen D, et al. Clin Cancer Res, 2011 Nov 1. PMID 21908579, Free PMC Article
    3. IGFBP7 participates in the reciprocal interaction between acute lymphoblastic leukemia and BM stromal cells and in leukemia resistance to asparaginase. Laranjeira AB, et al. Leukemia, 2012 May. PMID 22005787
    4. Externalization of saw-tooth architecture in small serrated polyps implies the presence of methylation of IGFBP7. Kaji E, et al. Dig Dis Sci, 2012 May. PMID 22173745
    5. Downregulation of insulin-like growth factor-binding protein 7 in cisplatin-resistant non-small cell lung cancer. Okamura J, et al. Cancer Biol Ther, 2012 Feb 1. PMID 22277373, Free PMC Article

    See all (193) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IGFBP7 promotes endothelial cell repair in the recovery phase of acute lung injury.
      Title: IGFBP7 promotes endothelial cell repair in the recovery phase of acute lung injury.
    2. Structural insight into CD93 recognition by IGFBP7.
      Title: Structural insight into CD93 recognition by IGFBP7.
    3. METTL3-mediated m[6]A modification of IGFBP7-OT promotes osteoarthritis progression by regulating the DNMT1/DNMT3a-IGFBP7 axis.
      Title: METTL3-mediated m(6)A modification of IGFBP7-OT promotes osteoarthritis progression by regulating the DNMT1/DNMT3a-IGFBP7 axis.
    4. Depletion of Igfbp7 alleviates zebrafish NAFLD progression through inhibiting hepatic ferroptosis.
      Title: Depletion of Igfbp7 alleviates zebrafish NAFLD progression through inhibiting hepatic ferroptosis.
    5. IGFBP-7 secreted by adipose-derived stem cells inhibits keloid formation via the BRAF/MEK/ERK signaling pathway.
      Title: IGFBP-7 secreted by adipose-derived stem cells inhibits keloid formation via the BRAF/MEK/ERK signaling pathway.
    6. The diagnostic value of serum insulin-like growth factor binding protein 7 in gastric cancer.
      Title: The diagnostic value of serum insulin-like growth factor binding protein 7 in gastric cancer.
    7. IGFBP7 Fuels the Glycolytic Metabolism in B-Cell Precursor Acute Lymphoblastic Leukemia by Sustaining Activation of the IGF1R-Akt-GLUT1 Axis.
      Title: IGFBP7 Fuels the Glycolytic Metabolism in B-Cell Precursor Acute Lymphoblastic Leukemia by Sustaining Activation of the IGF1R-Akt-GLUT1 Axis.
    8. Insulin-Like Growth Factor-Binding Protein 7 (IGFBP-7) - New Diagnostic and Prognostic Marker in Symptomatic Peripheral Arterial Disease? Pilot Study.
      Title: Insulin-Like Growth Factor-Binding Protein 7 (IGFBP-7)-New Diagnostic and Prognostic Marker in Symptomatic Peripheral Arterial Disease?-Pilot Study.
    9. Insulin-like growth factor binding protein 7 (IGFBP7), a link between heart failure and senescence.
      Title: Insulin-like growth factor binding protein 7 (IGFBP7), a link between heart failure and senescence.
    10. IGFBP7 enhances trophoblast invasion via IGF-1R/c-Jun signaling in unexplained recurrent spontaneous abortion.
      Title: IGFBP7 enhances trophoblast invasion via IGF-1R/c-Jun signaling in unexplained recurrent spontaneous abortion.
    Submit: New GeneRIF Correction See all GeneRIFs (148)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Familial retinal arterial macroaneurysm
    MedGen: C3280205 OMIM: 614224 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables insulin-like growth factor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables receptor ligand activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryo implantation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cortisol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular space IC
    Inferred by Curator
    more info
    		 PubMed 

    General protein information

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    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

    NCBI Reference Sequences (RefSeq)

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    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..84613
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001253835.2 → NP_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, ENST00000514062.2
      Conserved Domains (3) summary
      smart00280
      Location:111 → 156
      KAZAL; Kazal type serine protease inhibitors
      cl02472
      Location:30 → 90
      IGFBP; Insulin-like growth factor binding protein
      cl28434
      Location:160 → 265
      I-set; Immunoglobulin I-set domain

    2. NM_001553.3 → NP_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)
      AC069307, AI761388, BC066339
      Consensus CDS
      CCDS3512.1
      UniProtKB/Swiss-Prot
      B4E1N2, B7Z9W7, Q07822, Q16270, Q53YE6, Q9UCA8
      Related
      ENSP00000295666.4, ENST00000295666.6
      Conserved Domains (4) summary
      smart00280
      Location:111 → 156
      KAZAL; Kazal type serine protease inhibitors
      cd00096
      Location:160 → 163
      Ig; Ig strand A [structural motif]
      cl02472
      Location:30 → 90
      IGFBP; Insulin-like growth factor binding protein
      cl11960
      Location:160 → 265
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      57030773..57110385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      60522210..60601772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16270.1 GenPept UniProtKB/Swiss-Prot:Q16270

    Gene LinkOut

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