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IGFALS Gene

protein-coding   GIFtS: 58
GCID: GC16M001840

Insulin-Like Growth Factor Binding Protein, Acid Labile...

  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, Acid Labile Subunit1 2
ALS2 3 5
Insulin-Like Growth Factor Binding Protein Complex Acid Labile Chain2
Insulin-Like Growth Factor-Binding Protein Complex Acid Labile Subunit2

External Ids:    HGNC: 54681   Entrez Gene: 34832   Ensembl: ENSG000000997697   OMIM: 6014895   UniProtKB: P358583   

Export aliases for IGFALS gene to outside databases

Previous GC identifers: GC16M001857 GC16M001780


(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 IGFALS Gene:
The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their
half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich
repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency,
which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms
have been found for this gene. (provided by RefSeq, Mar 2009)

GeneCards Summary for IGFALS Gene:
IGFALS (insulin-like growth factor binding protein, acid labile subunit) is a protein-coding gene. Diseases associated with IGFALS include short stature due to primary acid-labile subunit deficiency, and acid-labile subunit deficiency. GO annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is GP5.

UniProtKB/Swiss-Prot: ALS_HUMAN, P35858
Function: Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or
cell adhesion

Gene Wiki entry for IGFALS 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_000016.10  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the IGFALS gene promoter:
         STAT5B   STAT1   Pax-5   STAT1beta   STAT1alpha   YY1   CP2   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIGFALS promoter sequence
   Search Chromatin IP Primers for IGFALS

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


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M001840:  view genomic region     (about GC identifiers)

Start:
1,840,414 bp from pter      End:
1,844,972 bp from pter
Size:
4,559 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ALS_HUMAN, P35858 (See protein sequence)
Recommended Name: Insulin-like growth factor-binding protein complex acid labile subunit precursor  
Size: 605 amino acids; 66035 Da
Subunit: Forms a ternary complex of about 140 to 150 kDa with IGF-I or IGF-II and IGFBP-3
Secondary accessions: B4DZY8 E9PGU3
Alternative splicing: 2 isoforms:  P35858-1   P35858-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IGFALS: NX_P35858

Explore proteomics data for IGFALS at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn64, Asn85, Asn96, Asn368, Asn515, Asn580

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001139478.1  NP_004961.1  

    ENSEMBL proteins: 
     ENSP00000215539   ENSP00000416683   ENSP00000456923  
    Reactome Protein details: P35858

    IGFALS Human Recombinant Protein Products:

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    Novus Biologicals IGFALS Protein
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    Cloud-Clone Corp. Proteins for IGFALS

    IGFALS Antibody Products:

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    ThermoFisher Antibodies for IGFALS
    LSBio Antibodies in human, mouse, rat for IGFALS

    IGFALS Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for IGFALS
    Cloud-Clone Corp. CLIAs for IGFALS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR000483 Cys-rich_flank_reg_C
     IPR001611 Leu-rich_rpt
     IPR003591 Leu-rich_rpt_typical-subtyp
     IPR000372 LRR-contain_N

    Graphical View of Domain Structure for InterPro Entry P35858

    ProtoNet protein and cluster: P35858

    3 Blocks protein domains:
    IPB000372 Cysteine-rich flanking region
    IPB000483 Cysteine-rich flanking region
    IPB001611 Leucine-rich repeat signature


    UniProtKB/Swiss-Prot: ALS_HUMAN, P35858
    Similarity: Contains 19 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain
    Similarity: Contains 1 LRRNT domain


    IGFALS 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: ALS_HUMAN, P35858
    Function: Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or
    cell adhesion

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005520insulin-like growth factor binding TAS1379671
         
    IGFALS for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Igfals):
     growth/size/body  limbs/digits/tail  reproductive system  skeleton 

    IGFALS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Igfalstm1Yrb for IGFALS

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

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

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

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

    Clone
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    OriGene clones in human, mouse for IGFALS (see all 13)
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    GenScript: all cDNA clones in your preferred vector (see all 2): IGFALS (NM_004970)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IGFALS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGFALS

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for IGFALS
    Browse ESI BIO Cell Lines and PureStem Progenitors for IGFALS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGFALS


    (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
    ALS_HUMAN, P35858: Secreted, extracellular space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus4
    lysosome1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0070062extracellular vesicular exosome IDA19056867

    IGFALS 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 IGFALS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    2Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
    Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for IGFALS
        Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)



    IGFALS for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including IGFALS: 
              Hepatotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IGFALS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for IGFALS (P358583 ENSP000002155394) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGF1P050193, ENSP000003026654I2D: score=2 STRING: ENSP00000302665
    IGFBP5P245933, ENSP000002338134I2D: score=2 STRING: ENSP00000233813
    IGFBP3P179363, ENSP000003704734I2D: score=2 STRING: ENSP00000370473
    PDCD6O753403I2D: score=4 
    F2ENSP000003085414STRING: ENSP00000308541
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007165signal transduction TAS1384485
    GO:0044267cellular protein metabolic process TAS--

    IGFALS 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 IGFALS (ALS)

    1 Novoseek inferred chemical compound relationship for IGFALS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 0 1 15212656 (1)



    IGFALS 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,
    Conferences by KenesGroup, 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 IGFALS gene (2 alternative transcripts): 
    NM_001146006.1  NM_004970.2  

    Unigene Cluster for IGFALS:

    Insulin-like growth factor binding protein, acid labile subunit
    Hs.839  [show with all ESTs]
    Unigene Representative Sequence: NM_001146006
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215539(uc002cmy.3 uc010uvo.2) ENST00000415638(uc010uvn.2)
    ENST00000568221
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat IGFALS using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate IGFALS
    SwitchGear 3'UTR luciferase reporter plasmidIGFALS 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for IGFALS
    Predesigned siRNA for gene silencing in human, mouse, rat IGFALS
    Clone
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    OriGene ORF clones in mouse, rat for IGFALS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): IGFALS (NM_004970)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IGFALS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGFALS
    Primer
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    OriGene qPCR primer pairs and template standards for IGFALS
    OriGene qSTAR qPCR primer pairs in human, mouse for IGFALS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IGFALS
      QuantiTect SYBR Green Assays in human, mouse, rat IGFALS
      QuantiFast Probe-based Assays in human, mouse, rat IGFALS

    Additional mRNA sequence: 

    AK292182.1 AK303146.1 AK313198.1 AK315808.1 BC025681.1 M86826.1 NR_027389.1 

    3 DOTS entries:

    DT.40105965  DT.120716875  DT.120716744 

    3 AceView cDNA sequences:

    M86826 NM_004970 BC025681 

    GeneLoc Exon Structure


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


    IGFALS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Visceral White Adipocytes Visceral White Adipose
             Body Subcutaneous White Adipose
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
    IGFALS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IGFALS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.839

    UniProtKB/Swiss-Prot: ALS_HUMAN, P35858
    Tissue specificity: Plasma

        Pathway & Disease-focused RT2 Profiler PCR Array including IGFALS: 
              Hepatotoxicity in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGFALS

    (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 animals.

    Orthologs for IGFALS gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Igfals1 , 5 insulin-like growth factor binding protein, acid labile more1, 5 79.39(n)1
    78.53(a)1
      17 (12.53 cM)5
    160051  NM_008340.31  NP_032366.21 
     248787705 
    chicken
    (Gallus gallus)
    Aves IGFALS1 insulin-like growth factor binding protein, acid labile more 68.74(n)
    61.38(a)
      427649  XM_004945405.1  XP_004945462.1 
    lizard
    (Anolis carolinensis)
    Reptilia IGFALS6
    insulin-like growth factor binding protein, acid l...
    59(a)
    1 ↔ 1
    GL343649.1(345319-347055)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia igfals1 insulin-like growth factor binding protein, acid labile more 61.97(n)
    60.82(a)
      100489984  XM_002940232.2  XP_002940278.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-66h3.11 si:ch211-66h3.1 56.21(n)
    53.05(a)
      570758  XM_003198155.2  XP_003198203.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Toll-73 defense response transmembrane receptor 31(a)
    (best of 10)
      56F3   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IGFALS gene
    GP52  CPN22  LRIG32  LRRTM42  CHAD2  LRRC152  LRIG22  LRRTM32  
    CHADL2  LRIG12  LRRTM22  LRRTM12  LRG12  
    1 SIMAP similar gene for IGFALS using alignment to 3 protein entries:     ALS_HUMAN (see all proteins):
    LRIG3

    IGFALS for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for IGFALS
    PGOHUM00000237081


    (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 IGFALS (see all 314)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs574153331,2
    --1774917(+) AGGGCA/GGTGGC 3 -- ds50010--------
    rs713857171,2
    C,F--1774938(+) CCAGGC/TGGGGG 3 -- ds50012Minor allele frequency- T:0.50NA 4
    rs455865411,2
    C,F--1774960(-) CCCGGC/TTTGGC 3 -- ds500117Minor allele frequency- T:0.38NA EU CSAM EA NS MN 2614
    rs129336101,2
    C,F,H--1775001(+) CCAGGC/TAACAC 3 -- ds500122Minor allele frequency- T:0.34NS EA NA EU CSAM MN 2938
    rs725472461,2
    F--1775058(-) CGGCAG/CAGCAA 3 -- ds50015Minor allele frequency- C:0.01MN 392
    rs1383996341,2
    --1775085(+) GTGGTA/GCAGTC 3 -- ds50010--------
    rs1869208481,2
    --1775117(+) CTCCCA/GGGCTC 3 -- ds50010--------
    rs1922304921,2
    --1775153(+) CTAGGA/GCCACA 3 -- ds50010--------
    rs340076121,2
    C,F--1775236(-) TGAGAG/AACCGT 3 -- ds50015Minor allele frequency- A:0.01NA EU CSAM EA 380
    rs339880591,2
    C,F--1775308(-) GGGCTC/TGGCGC 3 -- ds500113Minor allele frequency- T:0.12NA EU CSAM EA MN WA 1142

    HapMap Linkage Disequilibrium report for IGFALS (1840414 - 1844972 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for IGFALS (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    nsv904954CNV Loss21882294
    dgv2541n71CNV Loss21882294
    nsv457336CNV Loss19166990
    dgv2540n71CNV Loss21882294
    nsv905017CNV Loss21882294
    dgv2539n71CNV Loss21882294
    nsv905034CNV Loss21882294
    nsv518641CNV Loss19592680
    dgv2542n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): IGFALS
    Locus Specific Mutation Databases (LSDB): IGFALS

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IGFALS
    DNA2.0 Custom Variant and Variant Library Synthesis for IGFALS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601489    OMIM disorders: --

    17 diseases for IGFALS:    About MalaCards
    short stature due to primary acid-labile subunit deficiency    acid-labile subunit deficiency    central precocious puberty    precocious puberty
    testicular germ cell tumor    acromegaly    lung cancer susceptibility    congenital disorder of glycosylation
    germ cell tumors    short stature    epididymitis    atherosclerosis
    breast cancer    lung cancer    endotheliitis    prostate cancer
    prostatitis


    IGFALS for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for IGFALS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 0.865 2 17063263 (1)

    Genetic Association Database (GAD): IGFALS
    Human Genome Epidemiology (HuGE) Navigator: IGFALS (18 documents)

    Export disorders for IGFALS 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 IGFALS gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with IGFALS)
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    world of online information

    1. Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex. (PubMed id 1379671)1, 2, 3 Leong S.R.... Wood W.I. (Mol. Endocrinol. 1992)
    2. Conservation of a growth hormone-responsive promoter element in the human and mouse acid-labile subunit genes. (PubMed id 10650966)1, 2, 9 Suwanichkul A.... Powell D.R. (Endocrinology 2000)
    3. Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women: a report from the Shanghai Breast Cancer Study. (PubMed id 17063263)1, 4, 9 Deming S.L....Zheng W. (Breast Cancer Res. Treat. 2007)
    4. Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density. (PubMed id 20302654)1, 4, 9 Biong M....Kristensen V.N. (BMC Med Genomics 2010)
    5. Risk of testicular germ cell tumors and polymorphisms in the insulin-like growth factor genes. (PubMed id 18349294)1, 4, 9 Chia V.M....McGlynn K.A. (amp 2008)
    6. Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation. (PubMed id 17546465)1, 4, 9 Lettre G....Hirschhorn J.N. (Hum. Genet. 2007)
    7. Polymorphisms of genes coding for insulin-like growth factor 1 and its major binding proteins, circulating levels of IGF-I and IGFBP-3 and breast cancer risk: results from the EPIC study. (PubMed id 16404426)1, 4, 9 Canzian F....Kaaks R. (Br. J. Cancer 2006)
    8. Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse. (PubMed id 16114275)1, 3, 9 DomenAc H.M....Boisclair Y.R. (J. Endocrinol. Invest. 2005)
    9. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (Hum. Mol. Genet. 2010)
    10. Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. (PubMed id 20591980)1, 4 Fofanova-Gambetti O.V....Rosenfeld R.G. (J. Clin. Endocrinol. Metab. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3483 HGNC: 5468 AceView: IGFALS Ensembl:ENSG00000099769 euGenes: HUgn3483
    ECgene: IGFALS H-InvDB: IGFALS

    (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 IGFALS Pharmacogenomics, SNPs, Pathways

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

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



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