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STOM stomatin [ Homo sapiens (human) ]

Gene ID: 2040, updated on 3-Nov-2018

Summary

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]
Expression
Ubiquitous expression in fat (RPKM 161.3), bone marrow (RPKM 127.5) and 23 other tissues See more
Orthologs

Genomic context

See STOM in Genome Data Viewer
Location:
9q33.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 HDA PubMed 
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
membrane HDA 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 HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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 (1) summary
    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 (1) summary
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

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