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FLASH GENE
Symbol IGFBP6 contributors: mct/npt/pgu - updated : 16-11-2009
HGNC name insulin-like growth factor binding protein 6
HGNC id 5475
Location 12q13.13      Physical location : 53.491.435 - 53.496.128
Synonym name IGF-binding protein 6
Synonym symbol(s) IGBP6, B15D4, IBP-6
DNA
TYPE functioning gene
STRUCTURE 4.69 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
K6IRS2 12q13.13 poly(rC) binding protein 2 K6IRS3 12q13.3 poly(rC) binding protein 2 KRT2A 12q13.1-q13.2 keratin 2A (epidermal ichthyosis bullosa of Siemens) KRT1 12q13 keratin 1 (epidermolytic hyperkeratosis) LOC387860 12 similar to keratin 1b LOC341409 12q13.13 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 LOC387861 12 similar to K+ channel tetramerization protein HUMCYT2A 12q13.13 cytokeratin 2 KRT3 12q13 keratin 3 KRT4 12q13 keratin 4 KRT6L 12q13.13 keratin 6L K5B 12q13.13 keratin 5b KRT8 12q13 keratin 8 KRT18 12q13 keratin 18 EIF4B 12q13.13 eukaryotic translation initiation factor 4B PRO1843 12q13.13 hypothetical protein PRO1843 TENC1 12q12 tensin like C1 domain-containing phosphatase FLJ14800 12q13.13 hypothetical protein FLJ14800 IGFBP6 12q13 insulin-like growth factor binding protein 6 SOAT2 12q13.13 sterol O-acyltransferase 2 LOC387862 12 hypothetical gene supported by AK130082; NM_001416 CSAD 12q13.11-q14.3 cysteine sulfinic acid decarboxylase LOC390316 12 similar to oriLyt TD-element binding protein 7 ITGB7 12q13.2 integrin, beta 7 MGC11308 12q13.13 hypothetical protein MGC11308 ESPL1 8 extra spindle poles like 1 (S. cerevisiae) PFDN5 12q13.1 prefoldin 5 C12orf10 12q13 chromosome 12 open reading frame 10 AAAS 12q13 achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) SP7 12q12 Sp7 transcription factor SP1 12q13.1 Sp1 transcription factor AMHR2 12q13 anti-Mullerian hormone receptor, type II DKFZP564J157 12q12 DKFZp564J157 protein PCBP2 12q13.12-q13.13 poly(rC) binding protein 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 980 - 240 - 2008 18985860
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connective    
cells
SystemCellPubmedSpeciesStageRna symbol
 digestive
Skin/Tegumentmelanocyte
cell lineage
cell lines
fluid/secretion predominantly found in CSF (cerebrospinal fluid) and serum
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • invariant cysteine residues
  • ten N terminal
  • six C terminal
  • a N terminal IGFBP motif
  • a central domain containing two cysteine residues
  • a functional nuclear localization signal mediates its nuclear import
  • C-terminal domain shows the presence of substantial flexible regions, including three loop regions (Yao 2004), with a thyroglobulin type 1 fold comprising an alpha-helix followed by a loop, a three-stranded antiparallel beta-sheet incorporating a second loop, and finally a disulfide-bonded flexible third loop and with IGF2 binding site
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • IGFBP family
  • CATEGORY signaling cytokine growth factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus
    text nuclear import of IGFBP6 was mediated by a NLS sequence that bears limited homology to those found in IGFBP3 and -5
    basic FUNCTION
  • involved in cell growth and/or maintenance
  • function as carriers and regulators of the insulin-like growth factors (IGF1 and -2)
  • inhibit differentiation of myoblasts and osteoblasts
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SEMA3B (IGFBP6 is the effector of tumor suppressor activity of SEMA3B)
  • binds preferentially to IGF2
  • PDLIM7 is a IGFBP6 binding partner (increased promoter activity while IGFBP6 reduced promoter activity, and coexpression of PDLIM7 with IGFBP6 abrogated IGFBP6 suppression)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in oral tumors, as a potential predictive marker of tumor sensitivity and prognostic, since a significant correlation could be observed between increased induction of apoptotic cell death and elevated levels of IGFBP6 in these tumors
    constitutional     --over  
    increased apoptosis, and the addition of IGF2 did not negate this effect
    constitutional     --over  
    suppresses osteoblast differentiation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS