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    IGFBP6 insulin like growth factor binding protein 6 [ Homo sapiens (human) ]

    Gene ID: 3489, updated on 28-Oct-2024

    Summary

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    Official Symbol
    IGFBP6provided by HGNC
    Official Full Name
    insulin like growth factor binding protein 6provided by HGNC
    Primary source
    HGNC:HGNC:5475
    See related
    Ensembl:ENSG00000167779 MIM:146735; AllianceGenome:HGNC:5475
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IBP6
    Summary
    Enables identical protein binding activity and insulin-like growth factor II binding activity. Involved in cell migration and positive regulation of stress-activated MAPK cascade. Part of insulin-like growth factor binary complex. Implicated in obesity. Biomarker of breast cancer; in situ carcinoma; leiomyoma; and neovascular inflammatory vitreoretinopathy. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in fat (RPKM 60.7), prostate (RPKM 49.9) and 17 other tissues See more
    Orthologs
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    Genomic context

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    See IGFBP6 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53097667..53102340)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53062042..53066717)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53491451..53496124)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tensin 2 Neighboring gene microRNA 6757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53459723-53460224 Neighboring gene SPRY domain containing 3 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr12:53465666-53466166 and GRCh37_chr12:53466167-53466667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4494 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53493256-53493471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53496852-53497380 Neighboring gene uncharacterized LOC124902936 Neighboring gene sterol O-acyltransferase 2 Neighboring gene vesicle transport through interaction with t-SNAREs 1B pseudogene 3

    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 factors (IGF-I, free IGF-I and IGF-II) and insulin-like growth factor binding proteins (IGFBP-2, IGFBP-3, IGFBP-6, and ALS) in blood circulation. Yu H, et al. J Clin Lab Anal, 1999. PMID 10414596, Free PMC Article
    2. Isolation from human cerebrospinal fluid of a new insulin-like growth factor-binding protein with a selective affinity for IGF-II. Roghani M, et al. FEBS Lett, 1989 Sep 25. PMID 2551732
    3. A human keratinocyte cell line produces two autocrine growth inhibitors, transforming growth factor-beta and insulin-like growth factor binding protein-6, in a calcium- and cell density-dependent manner. Kato M, et al. J Biol Chem, 1995 May 26. PMID 7539002
    4. Downregulation of Insulin-like growth factor binding protein 6 is associated with ACTH-secreting pituitary adenoma growth. Yang Y, et al. Pituitary, 2014 Dec. PMID 24379119
    5. Insulin-like growth factor binding protein-4, -5 and -6 mRNAs in the human fetus: localization to sites of growth and differentiation? Delhanty PJ, et al. Growth Regul, 1993 Mar. PMID 7683540

    See all (90) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evaluation of SNPs from human IGFBP6 associated with gene expression: an in-silico study.
      Title: Evaluation of SNPs from human IGFBP6 associated with gene expression: an in-silico study.
    2. Effect of IGFBP6 Knockdown on Proteins Regulating Exosome Synthesis and Secretion in MDA-MB-231 Cell Line.
      Title: Effect of IGFBP6 Knockdown on Proteins Regulating Exosome Synthesis and Secretion in MDA-MB-231 Cell Line.
    3. Lactate modulates microglia polarization via IGFBP6 expression and remodels tumor microenvironment in glioblastoma.
      Title: Lactate modulates microglia polarization via IGFBP6 expression and remodels tumor microenvironment in glioblastoma.
    4. MAFB promotes the malignant phenotypes by IGFBP6 in esophageal squamous cell carcinomas.
      Title: MAFB promotes the malignant phenotypes by IGFBP6 in esophageal squamous cell carcinomas.
    5. IGFBP-6: At the Crossroads of Immunity, Tissue Repair and Fibrosis.
      Title: IGFBP-6: At the Crossroads of Immunity, Tissue Repair and Fibrosis.
    6. The clinical characteristics and prognostic value of IGFBP6 in glioma.
      Title: The clinical characteristics and prognostic value of IGFBP6 in glioma.
    7. IGFBP6 Is Downregulated in Unstable Carotid Atherosclerotic Plaques According to an Integrated Bioinformatics Analysis and Experimental Verification.
      Title: IGFBP6 Is Downregulated in Unstable Carotid Atherosclerotic Plaques According to an Integrated Bioinformatics Analysis and Experimental Verification.
    8. Decreased expression of IGFBP6 correlates with poor survival in colorectal cancer patients.
      Title: Decreased expression of IGFBP6 correlates with poor survival in colorectal cancer patients.
    9. IGFBP-6 seems to play an important role in the control of cell-specific immunologic adaptation following hyperthermia. (Review)
      Title: From fever to immunity: A new role for IGFBP-6?
    10. IGFBP6 controls the expansion of chemoresistant glioblastoma through paracrine IGF2/IGF-1R signaling
      Title: IGFBP6 controls the expansion of chemoresistant glioblastoma through paracrine IGF2/IGF-1R signaling.
    Submit: New GeneRIF Correction See all GeneRIFs (55)

    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

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection downregulates IGFBP6 expression in CEM*174 cells and mixed PBMC from HIV infected patients PubMed

    Go to the HIV-1, Human Interaction Database

    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 fibronectin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables insulin-like growth factor I binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables insulin-like growth factor II binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables insulin-like growth factor II binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of stress-activated MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of insulin-like growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of insulin-like growth factor binary complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    insulin-like growth factor-binding protein 6
    Names
    IBP-6
    IGF binding protein 6
    IGFBP-6

    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.

    mRNA and Protein(s)

    1. NM_002178.3 → NP_002169.1  insulin-like growth factor-binding protein 6 precursor

      See identical proteins and their annotated locations for NP_002169.1

      Status: VALIDATED

      Source sequence(s)
      BQ925731, M69054
      Consensus CDS
      CCDS8846.1
      UniProtKB/Swiss-Prot
      P24592, Q14492
      UniProtKB/TrEMBL
      F8VYK9
      Related
      ENSP00000301464.3, ENST00000301464.4
      Conserved Domains (2) summary
      smart00121
      Location:27 → 105
      IB; Insulin growth factor-binding protein homologues
      pfam00086
      Location:163 → 234
      Thyroglobulin_1; Thyroglobulin type-1 repeat

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53097667..53102340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428786.1 → XP_047284742.1  insulin-like growth factor-binding protein 6 isoform X1

      UniProtKB/TrEMBL
      F8VVA5
      Related
      ENSP00000449344.1, ENST00000548176.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53062042..53066717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371954.1 → XP_054227929.1  insulin-like growth factor-binding protein 6 isoform X1

      UniProtKB/TrEMBL
      F8VVA5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P24592.1 GenPept UniProtKB/Swiss-Prot:P24592

    Gene LinkOut

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