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Aliases for STOM Gene

Aliases for STOM Gene

  • Stomatin 2 3 4 5
  • Erythrocyte Membrane Protein Band 7.2 (Stomatin) 2 3
  • Protein 7.2b 3 4
  • EPB72 3 4
  • BND7 3 4
  • Erythrocyte Surface Protein Band 7.2 3
  • EPB7 3

External Ids for STOM Gene

Previous HGNC Symbols for STOM Gene

  • EPB7
  • EPB72

Previous GeneCards Identifiers for STOM Gene

  • GC09M115747
  • GC09M117555
  • GC09M119477
  • GC09M121180
  • GC09M123141
  • GC09M124102
  • GC09M093720

Summaries for STOM Gene

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 stomatocytosis i and pseudohyperkalemia cardiff. GO annotations related to this gene include protein homodimerization activity and RNA polymerase binding. An important paralog of this gene is STOML3.

UniProtKB/Swiss-Prot for STOM Gene

  • Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity.

Gene Wiki entry for STOM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STOM Gene

Genomics for STOM Gene

Regulatory Elements for STOM Gene

Enhancers for STOM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around STOM on UCSC Golden Path with GeneCards custom track

Promoters for STOM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around STOM on UCSC Golden Path with GeneCards custom track

Genomic Location for STOM Gene

Chromosome:
9
Start:
121,338,988 bp from pter
End:
121,370,304 bp from pter
Size:
31,317 bases
Orientation:
Minus strand

Genomic View for STOM Gene

Genes around STOM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STOM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STOM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STOM Gene

Proteins for STOM Gene

  • Protein details for STOM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27105-STOM_HUMAN
    Recommended name:
    Erythrocyte band 7 integral membrane protein
    Protein Accession:
    P27105
    Secondary Accessions:
    • B1AM77
    • Q14087
    • Q15609
    • Q5VX96
    • Q96FK4

    Protein attributes for STOM Gene

    Size:
    288 amino acids
    Molecular mass:
    31731 Da
    Quaternary structure:
    • Homodimer and higher order homooligomer. The homodimer is banana-shaped. Interacts with ASIC1, ASIC2 and ASIC3 (By similarity). Interacts with LANCL1. Interacts with SLC2A1 and SLC4A1. Identified in large complexes with SLC40A1, SLC14A1, SLC29A1 and AQP1.

    Alternative splice isoforms for STOM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STOM Gene

Proteomics data for STOM Gene at MOPED

Post-translational modifications for STOM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STOM Gene

No data available for DME Specific Peptides for STOM Gene

Domains & Families for STOM Gene

Protein Domains for STOM Gene

Suggested Antigen Peptide Sequences for STOM Gene

Graphical View of Domain Structure for InterPro Entry

P27105

UniProtKB/Swiss-Prot:

STOM_HUMAN :
  • Belongs to the band 7/mec-2 family.
Family:
  • Belongs to the band 7/mec-2 family.
genes like me logo Genes that share domains with STOM: view

No data available for Gene Families for STOM Gene

Function for STOM Gene

Molecular function for STOM Gene

UniProtKB/Swiss-Prot Function:
Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity.

Gene Ontology (GO) - Molecular Function for STOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25262680
genes like me logo Genes that share ontologies with STOM: view
genes like me logo Genes that share phenotypes with STOM: view

Human Phenotype Ontology for STOM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STOM Gene

MGI Knock Outs for STOM:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for STOM Gene

Localization for STOM Gene

Subcellular locations from UniProtKB/Swiss-Prot for STOM Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell membrane; Lipid-anchor; Cytoplasmic side. Membrane raft. Melanosome. Cytoplasmic vesicle. Note=Localizes to juxtanuclear structure probably derived from the Golgi apparatus (PubMed:9243190). Colocalizes with cortical actin microfilaments at small plasma membrane protrusions (PubMed:9243190). Associates with alpha-granular lipid rafts (PubMed:12130500). Translocates from the alpha-granular lipid rafts to the cell membrane on thrombin activation and selectively enriched in released microvesicles (PubMed:12130500). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545). {ECO:0000269 PubMed:12130500, ECO:0000269 PubMed:12643545, ECO:0000269 PubMed:9243190}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STOM Gene COMPARTMENTS Subcellular localization image for STOM gene
Compartment Confidence
cytoskeleton 5
extracellular 5
mitochondrion 5
plasma membrane 5
cytosol 4
endoplasmic reticulum 4
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for STOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IDA 25262680
GO:0005856 cytoskeleton IDA 1547348
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with STOM: view

Pathways & Interactions for STOM Gene

SuperPathways for STOM Gene

No Data Available

Gene Ontology (GO) - Biological Process for STOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044829 positive regulation by host of viral genome replication IEA --
GO:0048524 positive regulation of viral process IEA --
GO:0098779 mitophagy in response to mitochondrial depolarization IGI 22020285
genes like me logo Genes that share ontologies with STOM: view

No data available for Pathways by source and SIGNOR curated interactions for STOM Gene

Drugs & Compounds for STOM Gene

(6) Drugs for STOM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for STOM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STOM: view

Transcripts for STOM Gene

Unigene Clusters for STOM Gene

Stomatin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STOM Gene

No ASD Table

Relevant External Links for STOM Gene

GeneLoc Exon Structure for
STOM
ECgene alternative splicing isoforms for
STOM

Expression for STOM Gene

mRNA expression in normal human tissues for STOM Gene

Protein differential expression in normal tissues from HIPED for STOM Gene

This gene is overexpressed in Nasal epithelium (23.2), Platelet (11.7), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for STOM Gene



SOURCE GeneReport for Unigene cluster for STOM Gene Hs.253903

mRNA Expression by UniProt/SwissProt for STOM Gene

P27105-STOM_HUMAN
Tissue specificity: Detected in erythrocytes (at protein level). Widely expressed.
genes like me logo Genes that share expression patterns with STOM: view

Protein tissue co-expression partners for STOM Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for STOM Gene

Orthologs for STOM Gene

This gene was present in the common ancestor of animals.

Orthologs for STOM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia STOM 35
  • 87.68 (n)
  • 93.31 (a)
STOM 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STOM 35
  • 86.74 (n)
  • 95.77 (a)
STOM 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stom 35
  • 83.8 (n)
  • 87.32 (a)
Stom 16
Stom 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia STOM 35
  • 99.77 (n)
  • 100 (a)
STOM 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stom 35
  • 83.45 (n)
  • 88.73 (a)
oppossum
(Monodelphis domestica)
Mammalia STOM 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 91 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves STOM 35
  • 81.6 (n)
  • 93.82 (a)
STOM 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stom 35
  • 78.17 (n)
  • 90.2 (a)
Str.4922 35
African clawed frog
(Xenopus laevis)
Amphibia stom-prov 35
zebrafish
(Danio rerio)
Actinopterygii stom 35
  • 74.73 (n)
  • 82.56 (a)
stom 36
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta BND7A_ANOGA 35
  • 61.78 (n)
  • 66.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG42540 35
  • 63.12 (n)
  • 68.44 (a)
CG42540 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sto-2 35
  • 63.15 (n)
  • 68.75 (a)
sto-2 36
  • 48 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5092 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
ManyToMany
-- 36
  • 64 (a)
ManyToMany
-- 36
  • 62 (a)
ManyToMany
Species with no ortholog for STOM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STOM Gene

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

Paralogs for STOM Gene

Paralogs for STOM Gene

(3) SIMAP similar genes for STOM Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for STOM Gene

genes like me logo Genes that share paralogs with STOM: view

Variants for STOM Gene

Sequence variations from dbSNP and Humsavar for STOM Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1057351 -- 121,341,182(-) CTAGC(C/T)TTCCA intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1057374 -- 121,340,892(-) GGCCA(C/G)AGGCA intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1058206 -- 121,339,305(+) CTTTT(A/C/G/T)TGAGA nc-transcript-variant, utr-variant-3-prime
rs1135387 -- 121,340,618(-) CTCAT(A/G)CCACC intron-variant, nc-transcript-variant, utr-variant-3-prime
rs7468590 -- 121,361,409(+) tttta(A/G)atgta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STOM Gene

Variant ID Type Subtype PubMed ID
nsv893813 CNV Gain 21882294

Variation tolerance for STOM Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 49.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STOM Gene

HapMap Linkage Disequilibrium report
STOM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STOM Gene

Disorders for STOM Gene

MalaCards: The human disease database

(5) MalaCards diseases for STOM Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
stomatocytosis i
  • overhydrated hereditary stomatocytosis
pseudohyperkalemia cardiff
  • cryohydrocytosis
malaria
  • malaria, severe
locked-in syndrome
  • locked in syndrome
acromesomelic dysplasia
  • acromesomelic dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search STOM in MalaCards View complete list of genes associated with diseases

Relevant External Links for STOM

Genetic Association Database (GAD)
STOM
Human Genome Epidemiology (HuGE) Navigator
STOM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STOM
genes like me logo Genes that share disorders with STOM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STOM Gene

Publications for STOM Gene

  1. Cloning and nucleotide sequence of cDNA encoding human erythrocyte band 7 integral membrane protein. (PMID: 1883838) Hiebl-Dirschmied C.M. … Prohaska R. (Biochim. Biophys. Acta 1991) 2 3 4 67
  2. Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes. (PMID: 19696025) Mairhofer M. … Prohaska R. (J. Biol. Chem. 2009) 3 23
  3. Vesicles generated during storage of red cells are rich in the lipid raft marker stomatin. (PMID: 18067507) Salzer U. … Bosman G.J. (Transfusion 2008) 3 23
  4. Slipins: ancient origin, duplication and diversification of the stomatin protein family. (PMID: 18267007) Green J.B. … Young J.P. (BMC Evol. Biol. 2008) 3 23
  5. Erythrocyte Glut1 triggers dehydroascorbic acid uptake in mammals unable to synthesize vitamin C. (PMID: 18358815) Montel-Hagen A. … Taylor N. (Cell 2008) 3 23

Products for STOM Gene

Sources for STOM Gene

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