Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

OSTM1 Gene

protein-coding   GIFtS: 55
GCID: GC06M108409

Osteopetrosis Associated Transmembrane Protein 1

  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)
About This Section

Aliases
Osteopetrosis Associated Transmembrane Protein 11 2     GIPN2
GL2 3 5     GAIP-Interacting Protein N Terminus2
Chloride Channel 7 Beta Subunit2 3     Grey-Lethal Osteopetrosis2
OPTB52 5     Osteopetrosis-Associated Transmembrane Protein 12

External Ids:    HGNC: 216521   Entrez Gene: 289622   Ensembl: ENSG000000810877   OMIM: 6076495   UniProtKB: Q86WC43   

Export aliases for OSTM1 gene to outside databases

Previous GC identifers: GC06M108364 GC06M108470 GC06M105930


(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 OSTM1 Gene:
This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent
proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein
signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING
finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans.
Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. (provided by
RefSeq, Jul 2008)

GeneCards Summary for OSTM1 Gene: 
OSTM1 (osteopetrosis associated transmembrane protein 1) is a protein-coding gene. Diseases associated with OSTM1 include osteopetrosis, and osteopetrosis autosomal recessive 5, and among its related super-pathways are Stimuli-sensing channels and SLC-mediated transmembrane transport.

UniProtKB/Swiss-Prot: OSTM1_HUMAN, Q86WC4
Function: Required for osteoclast and melanocyte maturation and function (By similarity)

Gene Wiki entry for OSTM1 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_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for OSTM1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOSTM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for OSTM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OSTM1


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

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

OSTM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OSTM1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M108409:  view genomic region     (about GC identifiers)

Start:
108,362,613 bp from pter      End:
108,487,058 bp from pter
Size:
124,446 bases      Orientation:
minus strand

(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: OSTM1_HUMAN, Q86WC4 (See protein sequence)
Recommended Name: Osteopetrosis-associated transmembrane protein 1 precursor  
Size: 334 amino acids; 37257 Da
Subunit: Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits
Subcellular location: Lysosome membrane; Single-pass type I membrane protein. Note=Requires CLCN7 to travel to
lysosomes
Sequence caution: Sequence=AAD27000.1; Type=Frameshift; Positions=221;
Secondary accessions: E1P5E3 Q5R391 Q6PCA7 Q7RTW6 Q8NC29 Q8TC82 Q9Y2S9

Explore the universe of human proteins at neXtProt for OSTM1: NX_Q86WC4

Explore proteomics data for OSTM1 at MOPED 

Post-translational modifications:

  • UniProtKB: Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds
    with the remnant of the protein (By similarity)
  • UniProtKB: Highly N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86WC4

  • OSTM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OSTM1 Protein Expression
    REFSEQ proteins: NP_054747.2  
    ENSEMBL proteins: 
     ENSP00000193322   ENSP00000398556  
    Reactome Protein details: Q86WC4
    Human Recombinant Protein Products for OSTM1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for OSTM1
    OriGene Protein Over-expression Lysate for OSTM1
    OriGene MassSpec for OSTM1 
    OriGene Custom Protein Services for OSTM1
    GenScript Custom Purified and Recombinant Proteins Services for OSTM1
    Novus Biologicals OSTM1 Protein
    Novus Biologicals OSTM1 Lysate
    Sino Biological Recombinant Protein for OSTM1
    Sino Biological Cell Lysate for OSTM1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OSTM1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol IEA--
    GO:0016021integral to membrane IEA--

    OSTM1 for ontologies           About GeneDecksing



    OSTM1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for OSTM1
    GenScript Custom Superior Antibodies Services for OSTM1
    Novus Biologicals OSTM1 Antibodies
    Abcam antibodies for OSTM1
    Cloud-Clone Corp. Antibodies for OSTM1 
    ThermoFisher Antibodies for OSTM1
    LSBio Antibodies in human, mouse, rat for OSTM1 

    Assay Products for OSTM1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for OSTM1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for OSTM1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for OSTM1 
    Cloud-Clone Corp. CLIAs for OSTM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019172 Osteopetrosis-assoc_TM_1

    Graphical View of Domain Structure for InterPro Entry Q86WC4

    ProtoNet protein and cluster: Q86WC4


    OSTM1 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,
    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: OSTM1_HUMAN, Q86WC4
    Function: Required for osteoclast and melanocyte maturation and function (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    OSTM1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ostm1):
     behavior/neurological  craniofacial  growth/size  homeostasis/metabolism  immune system 
     integument  mortality/aging  pigmentation  skeleton  vision/eye 

    OSTM1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for OSTM1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OSTM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OSTM1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OSTM1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OSTM1
    8/82 QIAGEN miScript miRNA Assays for microRNAs that regulate OSTM1 (see all 82):
    hsa-miR-579 hsa-miR-140-5p hsa-miR-520e hsa-miR-520f hsa-miR-607 hsa-miR-106a hsa-miR-15a hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidOSTM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OSTM1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OSTM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for OSTM1
    Sirion Biotech Customized adenovirus for overexpression of OSTM1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for OSTM1 (see all 7)
    OriGene ORF clones in mouse, rat for OSTM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OSTM1 (NM_014028)
    Sino Biological Human cDNA Clone for OSTM1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSTM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSTM1
    Sirion Biotech Customized lentivirus for stable overexpression of OSTM1 
                         Customized lentivirus expression plasmids for stable overexpression of OSTM1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for OSTM1
    Search LifeMap BioReagents cell lines for OSTM1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSTM1


    (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 OSTM1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for OSTM1
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    OSTM1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for OSTM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/9 Interacting proteins for OSTM1 (Q86WC43 ENSP000001933224) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RGS20O760813, ENSP000002973134I2D: score=2 STRING: ENSP00000297313
    LAMP1P112793, ENSP000003332984I2D: score=1 STRING: ENSP00000333298
    GPSM1Q86YR53, ENSP000003928284I2D: score=1 STRING: ENSP00000392828
    RGS17Q9UGC63, ENSP000002062624I2D: score=2 STRING: ENSP00000206262
    RGS19P497953, ENSP000003331944I2D: score=2 STRING: ENSP00000333194
    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:0030316osteoclast differentiation IEA--
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    OSTM1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for OSTM1

    Search CenterWatch for drugs/clinical trials and news about OSTM1

    (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 OSTM1 gene: 
    NM_014028.3  

    Unigene Clusters for OSTM1:

    Osteopetrosis associated transmembrane protein 1
    Hs.226780  [show with all ESTs], Hs.745455
    Unigene Representative Sequences: NM_014028, AJ420489
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000193322(uc003psd.3) ENST00000492130(uc003pse.1) ENST00000472669
    ENST00000477774 ENST00000440575 ENST00000467960 ENST00000492070
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OSTM1
    8/82 QIAGEN miScript miRNA Assays for microRNAs that regulate OSTM1 (see all 82):
    hsa-miR-579 hsa-miR-140-5p hsa-miR-520e hsa-miR-520f hsa-miR-607 hsa-miR-106a hsa-miR-15a hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidOSTM1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OSTM1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OSTM1
    Clone
    Products:
         
    OriGene clones in human, mouse for OSTM1 (see all 7)
    OriGene ORF clones in mouse, rat for OSTM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OSTM1 (NM_014028)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSTM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSTM1
    Sirion Biotech Customized lentivirus for stable overexpression of OSTM1 
                         Customized lentivirus expression plasmids for stable overexpression of OSTM1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for OSTM1
    OriGene qSTAR qPCR primer pairs in human, mouse for OSTM1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OSTM1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OSTM1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OSTM1

    Additional mRNA sequence: AJ420489.1 

    8 DOTS entries:

    DT.99981162  DT.454388  DT.100782656  DT.92032824  DT.100782659  DT.121280136  DT.97779993  DT.121318609 

    24/225 AceView cDNA sequences (see all 225):

    AI623374 AI580671 AI806735 AI759998 H25403 AA805628 BM723219 AK129854 
    BE046526 BQ001811 AA459144 AI868601 H03451 AI139488 AA831459 AF077205 
    BQ889844 AW475060 CA420960 AA946706 H25802 AA312980 BG413553 NM_014028 

    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™, 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

    OSTM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGTGTTTG
    OSTM1 Expression
    About this image


    See OSTM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OSTM1

    SOURCE GeneReport for Unigene clusters: Hs.226780 Hs.745455
        SABiosciences Expression via Pathway-Focused PCR Array including OSTM1: 
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for OSTM1
    OriGene qSTAR qPCR primer pairs in human, mouse for OSTM1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OSTM1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OSTM1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OSTM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSTM1

    (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 OSTM1 gene from 7/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ostm11 , 5 osteopetrosis associated transmembrane protein 11, 5 81.3(n)1
    81.82(a)1
      10 (22.89 cM)5
    146281  NM_172416.31  NP_766004.11 
     425838225 
    chicken
    (Gallus gallus)
    Aves OSTM11 osteopetrosis associated transmembrane protein 1 69(n)
    63.47(a)
      421773  NM_001031077.1  NP_001026248.1 
    lizard
    (Anolis carolinensis)
    Reptilia OSTM16
    Uncharacterized protein
    64(a)
    1 ↔ 1
    1(190300959-190318881)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.32852 Xenopus laevis transcribed sequence with weak similarity more 77.73(n)    BJ080556.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ostm11 osteopetrosis associated transmembrane protein 1 55.13(n)
    51.05(a)
      100320445  XM_002665742.2  XP_002665788.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG149696
    --
    21(a)
    1 ↔ 1
    3L(3333119-3334978)
    worm
    (Caenorhabditis elegans)
    Secernentea F42A8.36
    Uncharacterized protein F42A8.3
    21(a)
    1 ↔ 1
    II(9352998-9354329)


    ENSEMBL Gene Tree for OSTM1 (if available)
    TreeFam Gene Tree for OSTM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/758 SNPs in OSTM1 are shown (see all 758)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1380241141,2
    --108360200(+) ACCCTA/GCCTCA 1 -- ds50010--------
    rs1424881251,2
    --108360409(+) TCAAGC/TGATCC 1 -- ds50010--------
    rs1430711391,2
    --108360458(+) CACACC/TATGAT 1 -- ds50010--------
    rs572368571,2
    C,F--108360588(+) AGGTAC/TCAGTC 1 -- ds50017Minor allele frequency- T:0.36NA WA CSA EA 364
    rs790381681,2
    C,F--108360607(+) CAGCAG/AATTTT 1 -- ds50011Minor allele frequency- A:0.03EA 120
    rs1124244951,2
    C--108360747(+) AGTTAT/CTTGTC 1 -- ut312Minor allele frequency- C:0.05CSA WA 120
    rs1129198021,2
    F--108360757(+) CATTAA/CACATG 1 -- ut312Minor allele frequency- C:0.04CSA WA 120
    rs1131009901,2
    C--108360818(+) GGAAA-/TTTAGT 1 -- ut311Minor allele frequency- T:0.00CSA 2
    rs1859058691,2
    --108360884(+) TAAAAG/TAACCA 1 -- ut310--------
    rs13041,2
    C,H--108360920(+) CAAGAT/GAAGCA 1 -- ut31 ese36Minor allele frequency- G:0.00MN NS EA NA 600

    HapMap Linkage Disequilibrium report for OSTM1 (108362613 - 108487058 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for OSTM1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv820169CNV Loss19587683


    Human Gene Mutation Database (HGMD): OSTM1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing OSTM1
    DNA2.0 Custom Variant and Variant Library Synthesis for OSTM1

    (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: 607649   
    OMIM disorders: 259720  
    UniProtKB/Swiss-Prot: OSTM1_HUMAN, Q86WC4
  • Osteopetrosis, autosomal recessive 5 (OPTB5) [MIM:259720]: A rare genetic disease characterized by
    abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe
    autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form
    occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with
    macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and
    hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
    OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of
    severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for OSTM1:    About MalaCards
    osteopetrosis    osteopetrosis autosomal recessive 5    ostm1-related autosomal recessive osteopetrosis    optic atrophy
    nephrolithiasis    lysosomal storage disease    cleft lip    thrombocytopenia
    kidney disease    anemia

    1 disease from the University of Copenhagen DISEASES database for OSTM1:
    Osteopetrosis

    OSTM1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for OSTM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteopetrosis 89.7 3 15177004 (2), 12627228 (1)
    bone diseases 64.7 1 15108279 (1)

    Genetic Association Database (GAD): OSTM1
    Human Genome Epidemiology (HuGE) Navigator: OSTM1 (4 documents)

    Export disorders for OSTM1 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)
    About This Section

    PubMed articles for OSTM1 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with OSTM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. (PubMed id 12627228)1, 2, 3, 9 Chalhoub N.... Vacher J. (2003)
    2. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchange r and requires Ostm1 for transport activity. (PubMed id 21527911)1, 2, 3 Leisle L....Stauber T. (2011)
    3. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    4. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    8. Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci. (PubMed id 12079282)1, 2 Abrahams B.S....Venkatesh B. (2002)
    9. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    10. Severe malignant osteopetrosis caused by a GL gene mutation. (PubMed id 15177004)1, 9 Quarello P....Ramenghi U. (2004)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 28962 HGNC: 21652 AceView: OSTM1 Ensembl:ENSG00000081087 euGenes: HUgn28962
    ECgene: OSTM1 H-InvDB: OSTM1

    (According to HUGE)
    About This Section
      --

    (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 OSTM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OSTM1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OSTM1 gene:
    Search GeneIP for patents involving OSTM1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for OSTM1  
     OriGene qPCR primer pairs and template standards for OSTM1   OriGene Protein Over-expression Lysate for OSTM1  
     OriGene MassSpec something-or-other for OSTM1   OriGene clones in human, mouse for OSTM1  
     OriGene qSTAR qPCR primer pairs in human, mouse for OSTM1   OriGene Purified Protein for OSTM1  
     OriGene ORF clones in mouse, rat for OSTM1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for OSTM1   OriGene Custom Protein Services for OSTM1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OSTM1
     QIAGEN SeqTarget long-range PCR primers for resequencing OSTM1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OSTM1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OSTM1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OSTM1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OSTM1
     GenScript Custom Purified and Recombinant Proteins Services for OSTM1 GenScript cDNA clones with any tag delivered in your preferred vector for OSTM1
     GenScript Custom Assay Services for OSTM1 GenScript Custom Superior Antibodies Services for OSTM1
     GenScript Custom overexpressing Cell Line Services for OSTM1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Search Regulatory tfbs for OSTM1
     Search Chromatin IP Primers for OSTM1
     RT2 qPCR Primer Assay in human, mouse, rat OSTM1
     GNC Network for OSTM1
     SABiosciences PCR Arrays including human, mouse, rat OSTM1
     Search Tocris compounds for OSTM1
     Proteins and Antibodies for OSTM1
     Cell Lysates for OSTM1
     cDNA Clones for OSTM1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     OSTM1 antibodies
     OSTM1 proteins
     OSTM1 lysates
     Antibodies for OSTM1
     See all of Abcam's Antibodies, Kits and Proteins for OSTM1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for OSTM1
     Antibodies for OSTM1
     ELISAs for OSTM1
     CLIAs for OSTM1
     Search LifeMap BioReagents cell lines for OSTM1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSTM1
     SwitchGear 3'UTR luciferase reporter plasmids for OSTM1
     SwitchGear Promoter luciferase reporter plasmids for OSTM1
     ThermoFisher Antibodies for OSTM1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSTM1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for OSTM1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OSTM1
    Customized:
     lentivirus for stable overexpression of OSTM1
     lentivirus expression plasmids for stable overexpression of OSTM1
     adenovirus for overexpression of OSTM1
     LSBio Antibodies in human, mouse, rat for OSTM1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      OSTM1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4