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STOM Gene

protein-coding   GIFtS: 56
GCID: GC09M124102

Stomatin

(Previous name: erythrocyte membrane protein band 7.2 (stomatin))
(Previous symbols: EPB7, EPB72)
  See STOM-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
Stomatin3     Protein 7.2b2 3
stomatin1 2     BND72 3
EPB721 2 3 5     Erythrocyte Band 7 Integral Membrane Protein2
EPB71 2     Erythrocyte Surface Protein Band 7.22
Erythrocyte Membrane Protein Band 7.2 (Stomatin)1 2     

External Ids:    HGNC: 33831   Entrez Gene: 20402   Ensembl: ENSG000001481757   OMIM: 1330905   UniProtKB: P271053   

Export aliases for STOM gene to outside databases

Previous GC identifers: GC09M115747 GC09M117555 GC09M119477 GC09M121180 GC09M123141 GC09M093720


(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 STOM Gene:
This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein
localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and
transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of
hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Jul 2012)

GeneCards Summary for STOM Gene:
STOM (stomatin) is a protein-coding gene. Diseases associated with STOM include obsessive-compulsive personality disorder, and locked-in syndrome. An important paralog of this gene is STOML3.

UniProtKB/Swiss-Prot: STOM_HUMAN, P27105
Function: Thought to regulate cation conductance. May regulate ASIC2 and ASIC3 gating (By similarity)

Gene Wiki entry for STOM 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 at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the STOM gene promoter:
         STAT5B   FOXF2   Sp1   FOXO3   Nkx2-5   FOXO3b   S8   IRF-2   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTOM promoter sequence
   Search Chromatin IP Primers for STOM

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


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

Entrez Gene cytogenetic band: 9q34.1   Ensembl cytogenetic band:  9q33.2   HGNC cytogenetic band: 9q34.1

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M124102:  view genomic region     (about GC identifiers)

Start:
124,101,353 bp from pter      End:
124,132,545 bp from pter
Size:
31,193 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: STOM_HUMAN, P27105 (See protein sequence)
Recommended Name: Erythrocyte band 7 integral membrane protein  
Size: 288 amino acids; 31731 Da
Subunit: Homooligomer containing between 9 and 12 monomers. Interacts with ASIC1, ASIC2 and ASIC3 (By similarity).
Interacts with LANCL1
Secondary accessions: B1AM77 Q14087 Q15609 Q5VX96 Q96FK4
Alternative splicing: 2 isoforms:  P27105-1   P27105-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for STOM: NX_P27105

Explore proteomics data for STOM at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001257455.1  NP_001257456.1  NP_004090.4  NP_937837.1  

    ENSEMBL proteins: 
     ENSP00000286713   ENSP00000339607   ENSP00000445764  

    STOM Human Recombinant Protein Products:

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    Novus Biologicals STOM Proteins
    Novus Biologicals STOM Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for STOM
    Cloud-Clone Corp. Proteins for STOM

     
    Search eBioscience for Proteins for STOM 

    STOM Antibody Products:

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    LSBio Antibodies in human, mouse, rat for STOM

    STOM Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for STOM
    Cloud-Clone Corp. CLIAs for STOM
    Search eBioscience for ELISAs for STOM 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR028515 Stomatin
     IPR001107 Band_7
     IPR001972 Stomatin_fam
     IPR018080 Band_7/stomatin-like_CS

    Graphical View of Domain Structure for InterPro Entry P27105

    ProtoNet protein and cluster: P27105

    1 Blocks protein domain: IPB001972 Stomatin

    UniProtKB/Swiss-Prot: STOM_HUMAN, P27105
    Similarity: Belongs to the band 7/mec-2 family


    Find genes that share domains with STOM           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STOM_HUMAN, P27105
    Function: Thought to regulate cation conductance. May regulate ASIC2 and ASIC3 gating (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042802identical protein binding IEA--
         
    Find genes that share ontologies with STOM           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Stom):
     hematopoietic system 

    Find genes that share phenotypes with STOM           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Stomtm1Wcm for STOM

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target STOM:
    hsa-mir-124-3p (MIRT002586)

    Block miRNA regulation of human, mouse, rat STOM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate STOM (see all 10):
    hsa-miR-3910 hsa-miR-607 hsa-miR-133b hsa-miR-513b hsa-miR-124 hsa-miR-133a hsa-miR-544 hsa-miR-891b
    SwitchGear 3'UTR luciferase reporter plasmidSTOM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for STOM
    Predesigned siRNA for gene silencing in human, mouse, rat STOM

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for STOM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): STOM (NM_198194)
    Sino Biological Human cDNA Clone for STOM
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STOM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STOM

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for STOM 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STOM


    (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
    STOM_HUMAN, P27105: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Lipid-anchor;
    Cytoplasmic side. Melanosome. Note=Exposed on the cytoplasmic surface of the membrane. Associated with lipid
    rafts. Concentrates preferentially in plasma membrane protrusions and in a juxta-nuclear region which may
    represent Golgi-derived vesicles. Colocalizes with actin. Identified by mass spectrometry in melanosome fractions
    from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    extracellular5
    plasma membrane5
    cytosol3
    endosome1
    nucleus1
    peroxisome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005856cytoskeleton IDA1547348
    GO:0005887integral component of plasma membrane IDA1547348
    GO:0042470melanosome IEA--
    GO:0045121membrane raft IDA12130500

    Find genes that share ontologies with STOM           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for STOM
    Interactions:

        GeneGlobe Interaction Network for STOM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for STOM (P271053 ENSP000002867134) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC2A1P111663, ENSP000004162934I2D: score=4 STRING: ENSP00000416293
    ASIC2Q165153, ENSP000002258234I2D: score=2 STRING: ENSP00000225823
    ASIC3Q9UHC33, ENSP000002975124I2D: score=2 STRING: ENSP00000297512
    CUL2Q136173, ENSP000003638804I2D: score=2 STRING: ENSP00000363880
    PUF60Q9UHX13, ENSP000003220164I2D: score=2 STRING: ENSP00000322016
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051260protein homooligomerization IDA9642292

    Find genes that share ontologies with STOM           About GenesLikeMe



    (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 STOM

    Selected Novoseek inferred chemical compound relationships for STOM gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 47.2 18 14665446 (4), 10604657 (3), 11159550 (2), 10713127 (2) (see all 11)
    mefloquine 39.3 1 8946384 (1)
    cholesterol 23.9 1 17526861 (1)
    potassium 22.4 1 16168686 (1)
    phospholipid 8.47 1 9088993 (1)
    sodium 6.18 1 16168686 (1)
    polyacrylamide 2.48 1 12750157 (1)
    glucose 0 9 11287341 (3), 10562431 (2), 14665446 (1), 18358815 (1) (see all 5)
    calcium 0 2 16785211 (1), 17961506 (1)
    serine 0 1 10338112 (1)



    Find genes that share compounds with STOM           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for STOM gene (4 alternative transcripts): 
    NM_001270526.1  NM_001270527.1  NM_004099.5  NM_198194.2  

    Unigene Cluster for STOM:

    Stomatin
    Hs.253903  [show with all ESTs]
    Unigene Representative Sequence: NR_073037
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000286713(uc004blh.3 uc004bli.3 uc011lyk.2) ENST00000347359
    ENST00000538954
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat STOM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate STOM (see all 10):
    hsa-miR-3910 hsa-miR-607 hsa-miR-133b hsa-miR-513b hsa-miR-124 hsa-miR-133a hsa-miR-544 hsa-miR-891b
    SwitchGear 3'UTR luciferase reporter plasmidSTOM 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for STOM
    Predesigned siRNA for gene silencing in human, mouse, rat STOM
    Clone
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    OriGene ORF clones in mouse, rat for STOM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): STOM (NM_198194)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STOM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STOM
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for STOM
    OriGene qSTAR qPCR primer pairs in human, mouse for STOM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STOM
      QuantiTect SYBR Green Assays in human, mouse, rat STOM
      QuantiFast Probe-based Assays in human, mouse, rat STOM

    Additional mRNA sequence: 

    AK302977.1 AK304449.1 AK304518.1 AK307999.1 BC010703.1 CR542100.1 NR_073037.1 X60067.1 

    Selected DOTS entries (see all 27):

    DT.92454213  DT.92454217  DT.95248669  DT.92454211  DT.100846058  DT.100846061  DT.100846056  DT.100846060 
    DT.95248753  DT.121183378  DT.100846055  DT.95248723  DT.100738174  DT.92017150  DT.100846057  DT.102844484 
    DT.121183384  DT.121183392  DT.121183554  DT.86992845  DT.92454210  DT.95209141  DT.95248760  DT.121183423 

    Selected AceView cDNA sequences (see all 718):

    BP338151 CA305919 T57779 BU688040 BP337332 BP344819 W42964 AA374084 
    BQ879364 CK902862 CF131595 CF131707 BQ010096 BX496456 AV661466 AA377244 
    AA040855 BF195390 AU130965 BP341153 AV651323 BM823616 BM457529 CD618014 

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


    STOM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Liver Lobule
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
    STOM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STOM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.253903

    UniProtKB/Swiss-Prot: STOM_HUMAN, P27105
    Tissue specificity: Widely expressed

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    QuantiFast Probe-based Assays in human, mouse, rat STOM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STOM

    (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 STOM gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stom1 , 5 stomatin1, 5 83.8(n)1
    87.32(a)1
      2 (23.53 cM)5
    138301  NM_013515.21  NP_038543.11 
     353139865 
    chicken
    (Gallus gallus)
    Aves STOM1 stomatin 81.6(n)
    93.82(a)
      417118  XM_415401.4  XP_415401.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia stom-prov2 stomatin 79.41(n)    BC054307.1 
    zebrafish
    (Danio rerio)
    Actinopterygii stom2 stomatin 79.15(n)   81534  NM_131758.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG425401 CG42540 63.12(n)
    68.44(a)
      38562  NM_168096.3  NP_729018.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sto-21 sto-2 63.15(n)
    68.75(a)
      180802  NM_001270094.1  NP_001257023.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for STOM gene
    STOML32  STOML22  NPHS22  STOML12  
    3 SIMAP similar genes for STOM using alignment to 2 protein entries:     STOM_HUMAN (see all proteins):
    STOML3    NPHS2    STOML1

    Find genes that share paralogs with STOM           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for STOM
    PGOHUM00000260132


    (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 STOM (see all 616)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1391214931,2
    --124100766(+) TTTCCA/GACCAT 5 -- ds50010--------
    rs109852121,2
    C,F--124100828(+) TGGTGA/TTAATA 5 -- ds50019Minor allele frequency- T:0.38NA EA 390
    rs1891512381,2
    --124100849(+) CAAACA/CATTTT 5 -- ds50010--------
    rs1814036581,2
    --124100877(+) TGTACA/GTACAC 5 -- ds50010--------
    rs1450562551,2
    --124100910(+) GACTGA/GTGCTC 5 -- ds50010--------
    rs1405880291,2
    --124100948(+) GTTCTA/GTCAGA 5 -- ds50010--------
    rs123355371,2
    C,F,H--124100962(+) TGCAGG/CTAAAA 5 -- ds50017Minor allele frequency- C:0.08NS EA WA NA 778
    rs797758111,2
    C,F--124101033(+) ACTGGG/ATGACA 5 -- ds50012Minor allele frequency- A:0.03NA 122
    rs1126650151,2
    C--124101105(+) TTTGTG/TGTGGT 5 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1160534451,2
    F--124101237(+) CCACAA/CAGCAC 5 -- ds50011Minor allele frequency- C:0.04WA 118

    HapMap Linkage Disequilibrium report for STOM (124101353 - 124132545 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for STOM:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv893813CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STOM
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 133090   
    OMIM disorders: 185000  
    4 diseases for STOM:    
    About MalaCards
    obsessive-compulsive personality disorder    locked-in syndrome    dehydrated hereditary stomatocytosis    malaria

    2 diseases from the University of Copenhagen DISEASES database for STOM:
    obsessive-compulsive personality disorder     locked-in syndrome

    Find genes that share disorders with STOM           About GenesLikeMe

    6 Novoseek inferred disease relationships for STOM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    overhydrated hereditary stomatocytosis 96.7 5 12750157 (2), 17961506 (1), 16197460 (1), 16168686 (1)
    stomatocytosis 95.3 16 16168686 (4), 18182167 (1), 9883810 (1), 8786142 (1) (see all 10)
    cryohydrocytosis 93.3 3 15180870 (2)
    anemia hemolytic 69.8 3 18182167 (1), 9147127 (1), 15611110 (1)
    macrocytosis 57.7 1 16168686 (1)
    malaria 22.7 1 12968029 (1)

    Genetic Association Database (GAD): STOM
    Human Genome Epidemiology (HuGE) Navigator: STOM (1 document)

    Export disorders for STOM 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 STOM gene, integrated from 10 sources (see all 122):
    (articles sorted by number of sources associating them with STOM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and nucleotide sequence of cDNA encoding human erythrocyte band 7 integral membrane protein. (PubMed id 1883838)1, 2, 3 Hiebl-Dirschmied C.M.... Prohaska R. (Biochim. Biophys. Acta 1991)
    2. Oligomeric nature of the integral membrane protein stomatin. (PubMed id 9642292)1, 2, 9 Snyers L.... Prohaska R. (J. Biol. Chem. 1998)
    3. Colocalization of stomatin (band 7.2b) and actin microfilaments in UAC epithelial cells. (PubMed id 9243190)1, 2, 9 Snyers L.... Prohaska R. (Eur. J. Cell Biol. 1997)
    4. Characterization of the stomatin domain involved in homo- oligomerization and lipid raft association. (PubMed id 16766530)1, 2, 9 Umlauf E.... Prohaska R. (J. Biol. Chem. 2006)
    5. Cysteine 29 is the major palmitoylation site on stomatin. (PubMed id 10338112)1, 2, 9 Snyers L.... Prohaska R. (FEBS Lett. 1999)
    6. The organization of the gene (EPB72) encoding the human erythrocyte band 7 integral membrane protein (protein 7.2b). (PubMed id 8825639)1, 2, 9 Unfried I.... Prohaska R. (Genomics 1995)
    7. Isolation, molecular characterization, and tissue-specific expression of a novel putative G protein-coupled receptor. (PubMed id 9512664)1, 2, 9 Mayer H....Prohaska R. (Biochim. Biophys. Acta 1998)
    8. Isolation of cDNA coding for an ubiquitous membrane protein deficient in high Na+, low K+ stomatocytic erythrocytes. (PubMed id 1547348)1, 2, 9 Stewart G.W.... Casimir C.M. (Blood 1992)
    9. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PubMed id 20583170)1, 4 Letra A....Vieira A.R. (Am. J. Med. Genet. A 2010)
    10. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)

    (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: 2040 HGNC: 3383 AceView: STOM Ensembl:ENSG00000148175 euGenes: HUgn2040
    ECgene: STOM H-InvDB: STOM

    (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 STOM Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for STOM gene:
    Search GeneIP for patents involving STOM

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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