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    STOM stomatin [ Homo sapiens (human) ]

    Gene ID: 2040, updated on 8-Oct-2017
    Official Symbol
    STOMprovided by HGNC
    Official Full Name
    stomatinprovided by HGNC
    Primary source
    HGNC:HGNC:3383
    See related
    Ensembl:ENSG00000148175 MIM:133090; Vega:OTTHUMG00000020590
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BND7; EPB7; EPB72
    Summary
    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]
    Orthologs
    Location:
    9q33.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (121338988..121370304, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (124101266..124132582, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene gelsolin Neighboring gene ATPase H+ transporting V1 subunit B2 pseudogene Neighboring gene GSN antisense RNA 1 Neighboring gene uncharacterized LOC102723324 Neighboring gene N-acetyllactosaminide alpha-1,3-galactosyltransferase-like

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
      Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation by host of viral genome replication IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein targeting to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of acid-sensing ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    specific granule membrane TAS
    Traceable Author Statement
    more info
     
    tertiary granule membrane TAS
    Traceable Author Statement
    more info
     
    vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    erythrocyte band 7 integral membrane protein
    Names
    erythrocyte membrane protein band 7.2 (stomatin)
    erythrocyte surface protein band 7.2
    protein 7.2b

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001270526.1NP_001257455.1  erythrocyte band 7 integral membrane protein isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites in the 3' coding region, which result in a frameshift, compared to variant 1. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI224884, AL161784, BI553227, DC368197
      Conserved Domains (2) summary
      smart00244
      Location:52196
      PHB; prohibitin homologues
      cl19107
      Location:73196
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    2. NM_001270527.1NP_001257456.1  erythrocyte band 7 integral membrane protein isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences, compared to variant 1. These differences include use of alternate splice sites and lack of a 3' coding exon, which result in a frameshift. The encoded isoform (d) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI224884, AL161784, BP208523, DC368197
      Consensus CDS
      CCDS75892.1
      UniProtKB/TrEMBL
      F8VSL7
      Related
      ENSP00000445764.2, ENST00000538954.5
      Conserved Domains (2) summary
      smart00244
      Location:52163
      PHB; prohibitin homologues
      cl19107
      Location:73167
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    3. NM_004099.5NP_004090.4  erythrocyte band 7 integral membrane protein isoform a

      See identical proteins and their annotated locations for NP_004090.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AI224884, AL161784, DC368197, X60067
      Consensus CDS
      CCDS6830.1
      UniProtKB/Swiss-Prot
      P27105
      UniProtKB/TrEMBL
      A0A024R882
      Related
      ENSP00000286713.2, OTTHUMP00000022024, ENST00000286713.6, OTTHUMT00000053889
      Conserved Domains (2) summary
      smart00244
      Location:52204
      PHB; prohibitin homologues
      cd03403
      Location:73274
      SPFH_stomatin; Stomatin, a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    4. NM_198194.2NP_937837.1  erythrocyte band 7 integral membrane protein isoform b

      See identical proteins and their annotated locations for NP_937837.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several alternate exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AI224884, AL161784, BG701899, DC368197
      Consensus CDS
      CCDS6831.1
      UniProtKB/Swiss-Prot
      P27105
      Related
      ENSP00000339607.2, OTTHUMP00000022025, ENST00000347359.3, OTTHUMT00000053890
      Conserved Domains (1) summary
      cl19107
      Location:55109
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    RNA

    1. NR_073037.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI224884, AK304449, AL161784, DC368197

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      121338988..121370304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      124248150..124279466 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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