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OSTM1 Gene

protein-coding   GIFtS: 56
GCID: GC06M108363

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)
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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 GC06M108409 GC06M108470 GC06M105930


(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 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 autosomal recessive 5, and ostm1-related autosomal recessive osteopetrosis.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for OSTM1
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC06M108363:  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 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: 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
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: 

  • Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds
    with the remnant of the protein (By similarity)1
  • Highly N-glycosylated1
  • Ubiquitination2 at Lys321
  • Glycosylation2 at Asn93, Asn128, Asn135, Asn163, Asn177, Asn184, Asn194, Asn216, Asn263, Asn274
  • Modification sites at PhosphoSitePlus

  • See OSTM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_054747.2  
    ENSEMBL proteins: 
     ENSP00000193322   ENSP00000398556  
    Reactome Protein details: Q86WC4

    OSTM1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    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

    OSTM1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
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    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

    OSTM1 Assay Products:

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

         Gene Ontology (GO): 1 molecular function term:    About this table

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


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ostm1):
     adipose tissue  behavior/neurological  craniofacial  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  mortality/aging 
     pigmentation  skeleton  vision/eye 

    OSTM1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OSTM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target OSTM1:
    hsa-let-7b-5p (MIRT052255), hsa-mir-374b-5p (MIRT016070), hsa-mir-106b-5p (MIRT020467), hsa-mir-26b-5p (MIRT029214), hsa-mir-125a-5p (MIRT021288), hsa-mir-140-5p (MIRT007373)

    Block miRNA regulation of human, mouse, rat OSTM1 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for OSTM1
    Predesigned siRNA for gene silencing in human, mouse, rat OSTM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for OSTM1

    Clone
    Products:
         
    OriGene clones in human, mouse for OSTM1 (see all 6)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for OSTM1
    Browse ESI BIO Cell Lines and PureStem Progenitors for OSTM1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSTM1


    (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
    OSTM1_HUMAN, Q86WC4: Lysosome membrane; Single-pass type I membrane protein. Note=Requires CLCN7 to travel to
    lysosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    plasma membrane3
    cytosol2
    extracellular2
    endosome1
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol IEA--
    GO:0016021integral component of membrane IEA--

    OSTM1 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 OSTM1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for OSTM1
        Stimuli-sensing channels



    OSTM1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including OSTM1: 
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for OSTM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for OSTM1 (Q86WC43 ENSP000001933224) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    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:    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, 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 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,
    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 OSTM1 gene: 
    NM_014028.3  

    Unigene Cluster for OSTM1:

    Osteopetrosis associated transmembrane protein 1
    Hs.226780  [show with all ESTs]
    Unigene Representative Sequence: NM_014028
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000193322(uc003psd.3) ENST00000492130(uc003pse.1) ENST00000472669
    ENST00000477774 ENST00000440575 ENST00000467960 ENST00000492070
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat OSTM1 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for OSTM1
    Predesigned siRNA for gene silencing in human, mouse, rat OSTM1
    Clone
    Products:
         
    OriGene clones in human, mouse for OSTM1 (see all 6)
    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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for OSTM1
    OriGene qSTAR qPCR primer pairs in human, mouse for OSTM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSTM1
      QuantiTect SYBR Green Assays in human, mouse, rat OSTM1
      QuantiFast Probe-based Assays in human, mouse, rat OSTM1

    Additional mRNA sequence: 

    AF077205.1 AF533891.1 AJ420572.1 AK075012.1 AK129854.1 AK314393.1 AY358795.1 BC010845.1 
    BC016376.1 BC059412.1 BC068581.1 

    8 DOTS entries:

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

    Selected AceView cDNA sequences (see all 225):

    AA831459 AW296493 AA946706 BM679973 CA420960 BM723219 AI017010 AI189440 
    BC016376 AF077205 AI254224 AI423718 BG413553 AV728049 AI806735 NM_014028 
    BE046526 AA458926 BQ001811 BF436068 BQ889844 BM664171 BC059412 AI668603 

    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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    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

    OSTM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OSTM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.226780
        Pathway & Disease-focused RT2 Profiler 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
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSTM1
    QuantiTect SYBR Green Assays in human, mouse, rat OSTM1
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for OSTM1 gene from Selected species (see all 13)    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 79.58(n)1
    81.13(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 70.16(n)
    65.73(a)
      421773  NM_001031077.1  NP_001026248.1 
    lizard
    (Anolis carolinensis)
    Reptilia OSTM16
    osteopetrosis associated transmembrane protein 1
    63(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 55.31(n)
    51.77(a)
      100320445  XM_002665742.3  XP_002665788.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG149696
    --
    21(a)
    1 ↔ 1
    3L(3333119-3334978)


    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

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      --

    (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 OSTM1 (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
    Site Specific Mutation Identification with 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.)
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    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

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

    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)
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    PubMed articles for OSTM1 gene, integrated from 10 sources (see all 39):
    (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. (Nat. Med. 2003)
    2. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. (PubMed id 21527911)1, 2, 3 Leisle L.... Stauber T. (EMBO J. 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. (J. Bone Miner. Res. 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. (Genet. Med. 2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (Genome Res. 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. (Genomics 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. (Genome Res. 2000)
    10. Severe malignant osteopetrosis caused by a GL gene mutation. (PubMed id 15177004)1, 9 Quarello P....Ramenghi U. (J. Bone Miner. Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 28962 HGNC: 21652 AceView: OSTM1 Ensembl:ENSG00000081087 euGenes: HUgn28962
    ECgene: OSTM1 H-InvDB: OSTM1

    (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 OSTM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OSTM1[genesymbol]

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

    GeneCards and IP:
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