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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IGFALS Gene

protein-coding   GIFtS: 60
GCID: GC16M001840

Insulin-Like Growth Factor Binding Protein, Acid Labile...
  12 related diseases
at
MalaCards
 

Aliases
for IGFALS gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         
NONCODE14:n407836      

Export aliases for IGFALS gene to outside databases

Previous GC identifers: GC16M001857 GC16M001780


Summaries
for IGFALS gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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, and is affiliated with the lncRNA class. Diseases associated with IGFALS include acid-labile subunit deficiency, and short stature due to primary acid-labile subunit deficiency, and among its related super-pathways are Post-translational protein modification. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences 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 plasmid: IGFALS promoter sequence
   Search SABiosciences Chromatin IP Primers for IGFALS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for IGFALS gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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
Subcellular location: Secreted, extracellular space
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35858

    • IGFALS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000215539   ENSP00000416683   ENSP00000456923  
    Reactome Protein details: P35858
    Human Recombinant Protein Products for IGFALS: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for IGFALS
    OriGene Protein Over-expression Lysate for IGFALS
    OriGene MassSpec for IGFALS 
    OriGene Custom Protein Services for IGFALS
    GenScript Custom Purified and Recombinant Proteins Services for IGFALS
    Novus Biologicals IGFALS Protein
    Novus Biologicals IGFALS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for IGFALS 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    IGFALS for ontologies           About GeneDecksing



    IGFALS Antibody Products: 
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    Novus Biologicals IGFALS Antibodies
    Abcam antibodies for IGFALS
    Cloud-Clone Corp. Antibodies for IGFALS 
    ThermoFisher Antibodies for IGFALS
    LSBio Antibodies in human, mouse, rat for IGFALS 

    Assay Products for IGFALS: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for IGFALS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for IGFALS 
    Cloud-Clone Corp. CLIAs for IGFALS

    Protein Domains /
    Families
    for IGFALS gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 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


    Function
    for IGFALS gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    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  limbs/digits/tail  reproductive system  skeleton 

    IGFALS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Igfalstm1Yrb for IGFALS

       inGenious Targeting Laboratory - Custom generated mouse model solutions for IGFALS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IGFALS
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate IGFALS
    SwitchGear 3'UTR luciferase reporter plasmid: IGFALS 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for IGFALS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IGFALS

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for IGFALS
    Sirion Biotech Customized adenovirus for overexpression of IGFALS

    Clone
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    OriGene clones in human, mouse for IGFALS (see all 11)
    OriGene ORF clones in mouse, rat for IGFALS
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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
    Sirion Biotech Customized lentivirus for stable overexpression of IGFALS 
                         Customized lentivirus expression plasmids for stable overexpression of IGFALS 

    Cell Line
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    Search LifeMap BioReagents cell lines for IGFALS
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGFALS


    Pathways & Interactions
    for IGFALS gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for IGFALS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    		Metabolism of proteins0.35
    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


    2        Reactome Pathways for IGFALS
        Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
    Metabolism of proteins



    IGFALS for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IGFALS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for IGFALS (P358583 ENSP000002155394) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    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 (GO ID links to tree view):    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



    Drugs & Compounds
    for IGFALS gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IGFALS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about IGFALS / ALS

    Transcripts
    for IGFALS gene

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IGFALS
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate IGFALS
    SwitchGear 3'UTR luciferase reporter plasmid: IGFALS 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for IGFALS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IGFALS
    Clone
    Products:             		 OriGene clones in human, mouse for IGFALS (see all 11)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of IGFALS 
                         Customized lentivirus expression plasmids for stable overexpression of IGFALS 
    Primer
    Products:            		OriGene qPCR primer pairs and template standards for IGFALS
    OriGene qSTAR qPCR primer pairs in human, mouse for IGFALS
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IGFALS
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IGFALS
      QIAGEN 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:

    NM_004970 BC025681 M86826 

    GeneLoc Exon Structure


    Expression
    for IGFALS gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/5 selected tissues (see all 5) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 4 entries
             Body Subcutaneous White Adipose
             epididymal fat pads   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Blood (Hematopoietic System)
             cd14+ cells   
     
     Oral Cavity (Gastrointestinal Tract)
             saliva   
     
     Liver (Hepatobiliary System)

    See IGFALS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IGFALS

    SOURCE GeneReport for Unigene cluster: Hs.839

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

        SABiosciences Expression via Pathway-Focused 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
    for IGFALS gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for IGFALS gene from 5/12 species (see all 12)    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 79.21(n)1
    77.93(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 67.94(n)
    60.23(a)    		   427649  XM_425222.3  XP_425222.3 
    lizard
    (Anolis carolinensis)    		 Reptilia IGFALS6
    		 Uncharacterized protein
    		 59(a)
    		 1 ↔ 1
    		 GL343649.1(345319-347055)
    zebrafish
    (Danio rerio)    		 Actinopterygii si:ch211-66h3.11 si:ch211-66h3.1 55.85(n)
    52.84(a)    		   570758  XM_003198155.1  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
    for IGFALS gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IGFALS gene
    GP52  CPN22  LRRC152  LRRTM32  LRIG12  LRRTM22  RTN4R2  LRRTM12  
    LRG12  NYX2  LRIG32  LRRTM42  CHAD2  LRIG22  CHADL2  RTN4RL12  
    LRRC702  RTN4RL22  
    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


    Genomic Variants
    for IGFALS gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/314 SNPs in IGFALS are shown (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) 10/19 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
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IGFALS
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    Disorders / Diseases
    for IGFALS gene

    (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.)
    About This Section
    		 OMIM gene information: 601489    OMIM disorders: --

    12 diseases for IGFALS:    About MalaCards
    acid-labile subunit deficiency    short stature due to primary acid-labile subunit deficiency    central precocious puberty    precocious puberty
    acromegaly    germ cell tumors    atherosclerosis    breast cancer
    prostate cancer    prostatitis    endotheliitis    lung cancer


    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

    Publications
    for IGFALS gene

    (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)
    About This Section

    PubMed articles for IGFALS gene, integrated from 9 sources (see all 67):
    (articles sorted by number of sources associating them with IGFALS)    		    Utopia: connect your pdf to the dynamic
    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. (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. (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. (2007)
    4. Genotypes and haplotypes in the insulin-like growth f actors, their receptors and binding proteins in relation to plasma metabolic le vels and mammographic density. (PubMed id 20302654)1, 4, 9 Biong M....Kristensen V.N. (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. (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. (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. (2006)
    8. Acid-labile subunit deficiency: phenotypic similariti es and differences between human and mouse. (PubMed id 16114275)1, 3, 9 DomenAc H.M....Boisclair Y.R. (2005)
    9. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolis m and breast cancer risk in the NCI breast and prostate cancer cohort consortiu m. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (2010)
    10. Impact of heterozygosity for acid-labile subunit (IGF ALS) gene mutations on stature: results from the international acid-labile subu nit consortium. (PubMed id 20591980)1, 4 Fofanova-Gambetti O.V....Rosenfeld R.G. (2010)

    External Searches for IGFALS gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing IGFALS gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3483 HGNC: 5468 AceView: IGFALS Ensembl:ENSG00000099769 euGenes: HUgn3483
    ECgene: IGFALS H-InvDB: IGFALS

    Other Databases showing IGFALS gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing IGFALS gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IGFALS Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for IGFALS gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
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    About This Section

     
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