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

STOM Gene

protein-coding   GIFtS: 52
GCID: GC09M124102

stomatin

(Previous name: erythrocyte membrane protein band 7.2 (stomatin) )
(Previous symbols: EPB7, EPB72)
 Explore 24 diseases affiliated with
STOM via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for STOM    

Aliases
for STOM gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Stomatin3     Erythrocyte Membrane Protein Band 7.2 (Stomatin)1 2
Stomatin3     Protein 7.2b2 3
EPB721 2 3 5     Erythrocyte Band 7 Integral Membrane Protein2
BND71 2 3     Erythrocyte Surface Protein Band 7.22
EPB71 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


Summaries
for STOM gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for STOM:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences 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 plasmid: STOM promoter sequence
   Search SABiosciences Chromatin IP Primers for STOM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for STOM gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P27105

    • STOM Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000286713   ENSP00000339607   ENSP00000445764  

    Human Recombinant Protein Products: 
    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: STOM
    OriGene Protein Over-expression Lysate: STOM
    OriGene Custom Protein Services for STOM 
    GenScript Custom Purified and Recombinant Proteins Services for STOM
    Novus Biologicals STOM Proteins
    Novus Biologicals STOM Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for STOM

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005856cytoskeleton IDA1547348
    GO:0005887integral to plasma membrane IDA1547348
    GO:0016020membrane ----
    GO:0042470melanosome IEA--


    STOM for ontologies           About GeneDecksing



    STOM Antibody Products: 
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    Abcam antibodies for STOM 
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    Assay Products for STOM: 
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    Uscn ELISAs and CLIAs for STOM

    Protein Domains /
    Families
    for STOM gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    STOM for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001107 Band_7
     IPR001972 Stomatin
     IPR018080 Band_7/stomatin-like_CS

    Graphical View of Domain Structure for InterPro Entry P27105

    ProtoNet protein and cluster: P27105

    1 Blocks protein family: IPB001972 Stomatin

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


    Function
    for STOM gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

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

    OriGene 3'-UTR Clone (see all 2): STOM
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STOM
    8/10 QIAGEN miScript miRNA 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 plasmid: STOM 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STOM (see all 7)
    OriGene shRNA RFP: STOM
    OriGene siRNA: STOM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STOM

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STOM (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STOM (see all 2)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STOM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STOM 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for STOM
    Search LifeMap BioReagents cell lines for STOM

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STOM

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----


    STOM for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Stomtm1Wcm for STOM
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Stom):
     hematopoietic system 

    STOM for phenotypes           About GeneDecksing


    Pathways & Interactions
    for STOM gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for STOM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/21 Interacting proteins for STOM (P271053 ENSP000002867134) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051260protein homooligomerization IDA9642292


    STOM for ontologies           About GeneDecksing



    Drugs & Compounds
    for STOM gene

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

    STOM for compounds           About GeneDecksing

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

    Browse Tocris compounds for STOM
    10/11 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about STOM 

    Transcripts
    for STOM gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 OriGene 3'-UTR Clone (see all 2): STOM
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STOM
    8/10 QIAGEN miScript miRNA 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 plasmid: STOM 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STOM (see all 7)
    OriGene shRNA RFP: STOM
    OriGene siRNA: STOM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STOM
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STOM (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STOM (see all 2)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for STOM
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat STOM
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STOM
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STOM

    Additional cDNA sequence: 

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

    24/27 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 

    24/718 AceView cDNA sequences (see all 718):

    BM803225 AI189966 AA360851 BI492621 AA314544 AA310456 BQ880120 AI819811 
    BE464557 AA669474 CA841949 H60409 CF887013 BU678500 AI356879 AU108087 
    BM740275 BM781968 AA344527 AA479271 CD107898 BP338151 CA305919 T57779 

    GeneLoc Exon Structure


    Expression
    for STOM gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    STOM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATCCTGGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    STOM expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Early limb mesenchymal cells (ELM cells) (Primary Cell)Bone, Cartilage, Limb
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)

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

    SOURCE GeneReport for Unigene cluster: Hs.253903

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

        SABiosciences Custom PCR Arrays for STOM
    Primer
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    QIAGEN 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
    for STOM gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for STOM gene from 9/33 species (see all 33)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves STOM1 stomatin 81.65(n)
    94.19(a)    		   417118  XM_415401.3  XP_415401.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 18(a)
    16(a)
    		 possible ortholog
    possible ortholog
    		 GL343804.1(125687-136727)
    GL343194.1(3244442-3245581)
    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 Protein STO-2 63.59(n)
    69.75(a)    		   180802  NM_076501.4  NP_508902.3 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G541006
    AT4G275856
    		 SPFH/Band 7/PHB domain-containing membrane-associa...
    SPFH/Band 7/PHB domain-containing membrane-associa...
    		 17(a)
    15(a)
    		 possible ortholog
    possible ortholog
    		 5(21953787-21956564)
    4(13766763-13769961)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 stomatin-like protein 2, putative, expressed
    		 16(a)
    		 possible ortholog
    		 8(3419572-3423755)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria qmcA6
    		 multicopy suppressor of ftsH htpX double mutant; m...
    		 24(a)
    		 possible ortholog
    		 Chromosome(514080-514997)


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

    Paralogs
    for STOM gene

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

    STOM for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for STOM
    PGOHUM00000260132


    Genomic Variants
    for STOM gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/534 NCBI SNPs in STOM are shown (see all 534)     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
    		F,H,--124100962(+) TGCAGG/CTAAAA 5 -- ds50017Minor allele frequency- C:0.08NS EA WA NA 778
    rs797758111,2
    		C,--124101033(+) ACTGGG/ATGACA 5 -- ds50012Minor allele frequency- A:0.03NA 122
    rs106100081,2
    		C,--124101103(+) GCTTT-/GTGGTGGT 5 -- ds50010--------
    rs105798381,2
    		C--124101104(+) GGTGG-/TGGAGGGT 5 -- ds50011Minor allele frequency- TGG:0.00NA 2

    HapMap Linkage Disequilibrium report for STOM (124101353 - 124132545 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for STOM: --

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    Disorders / Diseases
    for STOM gene

    (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.)
    About This Section
    STOM for disorders           About GeneDecksing

    OMIM gene information: 133090   
    OMIM disorders: 185000  
    20/24 diseases for STOM (see all 24):    About MalaCards
    hemolytic anemia    dehydrated hereditary stomatocytosis    anemia    cleft lip/palate
    stomatocytosis i    cleft lip    acromesomelic dysplasia    locked-in syndrome
    esophageal squamous cell carcinoma    squamous cell carcinoma    nephrotic syndrome    endometrial adenocarcinoma
    protein s deficiency    genetic disease    esophagitis    lung cancer
    adenocarcinoma    malaria    carcinoma    cholesterol

    2 diseases from the University of Copenhagen DISEASES database for STOM:
    Hemolytic anemia     locked-in syndrome

    6 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: STOM (1 document)

    Export disorders for STOM gene to outside databases

    Publications
    for STOM gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for STOM gene, integrated from 9 sources (see all 109):
    (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. (1991)
    2. Oligomeric nature of the integral membrane protein stomatin. (PubMed id 9642292)1, 2, 9 Snyers L.... Prohaska R. (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. (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. (2006)
    5. Cysteine 29 is the major palmitoylation site on stomatin. (PubMed id 10338112)1, 2, 9 Snyers L.... Prohaska R. (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. (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. (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. (1992)
    9. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)

    External Searches for STOM gene

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

    Genome Databases showing STOM gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2040 HGNC: 3383 AceView: STOM Ensembl:ENSG00000148175 euGenes: HUgn2040
    ECgene: STOM H-InvDB: STOM

    Other Databases showing STOM gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing STOM gene

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

    Intellectual Property
    for STOM gene

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



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