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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 Band 7 Integral Membrane Protein 3
  • 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 Overhydrated Hereditary Stomatocytosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Innate Immune System. Gene Ontology (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

Additional gene information for STOM Gene

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

Genomics for STOM Gene

GeneHancer (GH) Regulatory Elements for STOM Gene

Promoters and enhancers for STOM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J121366 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 656.4 -0.1 -135 7.5 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 STOM LOC102723324 GGTA1P CUTALP PSMD5 MRRF CNTRL FBXW2 GC09M121372
GH09J121293 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.6 +72.8 72775 7.3 FOXA2 MLX ARID4B ZNF48 ETS1 SLC30A9 SP3 SP5 ZHX2 MXD4 GSN FBXW2 PSMD5 GGTA1P STOM LOC102723324 C5 CUTALP GSN-AS1 PIR41790
GH09J121192 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.6 +172.7 172653 10.3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 RAB14 CUTALP FBXW2 CNTRL PSMD5 C5 GSN-AS1 ENSG00000239593 LOC102723324 STOM
GH09J121267 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +99.9 99862 6.1 HDAC1 CLOCK RB1 ARID4B NEUROD1 SIN3A ZBTB40 RAD21 ZNF335 EGR1 GSN PSMD5 CNTRL FBXW2 RAB14 CUTALP MRRF LOC102723324 STOM C5
GH09J121275 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +87.5 87499 15.3 CLOCK MLX ZFP64 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 MEF2D SSRP1 ENSG00000239593 FBXW2 PSMD5 CNTRL CUTALP MRRF GSN GGTA1P C5 STOM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STOM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STOM gene promoter:
  • Nkx2-5
  • S8
  • IRF-2
  • FOXO3b
  • FOXO3a
  • FOXO3
  • STAT5B
  • Sp1
  • FOXF2

Genomic Locations for STOM Gene

Genomic Locations for STOM Gene
chr9:121,338,988-121,370,304
(GRCh38/hg38)
Size:
31,317 bases
Orientation:
Minus strand
chr9:124,101,353-124,132,545
(GRCh37/hg19)
Size:
31,193 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. Interacts with STOML1; may redistribute STOM from the plasma membrane to late endosomes.

    Alternative splice isoforms for STOM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STOM Gene

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

Gene Families for STOM Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

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

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.

Phenotypes From GWAS Catalog for STOM Gene

Gene Ontology (GO) - Molecular Function for STOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19696025
GO:0042802 identical protein binding IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0070063 RNA polymerase 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STOM

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STOM gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
mitochondrion 5
cytosol 5
endoplasmic reticulum 4
lysosome 4
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Golgi apparatus (2)
  • Vesicles (2)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 16502470
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 25262680
GO:0005783 endoplasmic reticulum IDA 25262680
GO:0005856 cytoskeleton IEA,IDA 1547348
genes like me logo Genes that share ontologies with STOM: view

Pathways & Interactions for STOM Gene

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

Pathways by source for STOM Gene

Gene Ontology (GO) - Biological Process for STOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0044829 positive regulation by host of viral genome replication IEA --
GO:0048524 positive regulation of viral process IEA --
GO:0051260 protein homooligomerization IDA 9642292
genes like me logo Genes that share ontologies with STOM: view

No data available for SIGNOR curated interactions for STOM Gene

Drugs & Compounds for STOM Gene

(7) Drugs for STOM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) 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

mRNA/cDNA for STOM Gene

Unigene Clusters for STOM Gene

Stomatin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STOM

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for STOM Gene



Protein tissue co-expression partners for STOM Gene

NURSA nuclear receptor signaling pathways regulating expression of STOM Gene:

STOM

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.

Evidence on tissue expression from TISSUES for STOM Gene

  • Nervous system(4.9)
  • Blood(4.7)
  • Liver(4.6)
  • Bone marrow(4.4)
  • Eye(4.3)
  • Lung(3.5)
  • Kidney(2.8)
  • Intestine(2.7)
  • Spleen(2.6)
  • Heart(2.5)
  • Lymph node(2.2)
  • Gall bladder(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STOM Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with STOM: view

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
chimpanzee
(Pan troglodytes)
Mammalia STOM 34 33
  • 99.77 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STOM 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
cow
(Bos Taurus)
Mammalia STOM 34 33
  • 87.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STOM 34 33
  • 86.74 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Stom 16 34 33
  • 83.8 (n)
rat
(Rattus norvegicus)
Mammalia Stom 33
  • 83.45 (n)
chicken
(Gallus gallus)
Aves STOM 34 33
  • 81.6 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stom 33
  • 78.17 (n)
Str.4922 33
African clawed frog
(Xenopus laevis)
Amphibia stom-prov 33
zebrafish
(Danio rerio)
Actinopterygii stom 34 33 33
  • 74.73 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42540 34 33
  • 63.12 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta BND7A_ANOGA 33
  • 61.78 (n)
worm
(Caenorhabditis elegans)
Secernentea sto-2 34 33
  • 63.15 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
-- 34
  • 62 (a)
ManyToMany
Cin.5092 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5092 33
Species where no ortholog for STOM was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for STOM: view image

Paralogs for STOM Gene

Paralogs for STOM Gene

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

  • STOM_HUMAN
  • B4E2V5_HUMAN

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 Variation AA Info Type
rs1000040431 -- 121,360,081(-) G/A intron_variant
rs1000054950 -- 121,366,814(-) G/A intron_variant
rs1000287413 -- 121,359,016(-) C/G/T intron_variant
rs1000598826 -- 121,346,392(-) G/ intron_variant
rs1000610521 -- 121,342,528(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv478027 CNV novel sequence insertion 20440878
nsv950938 CNV duplication 24416366

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)

Additional Variant Information for STOM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STOM

SNP Genotyping and Copy Number Assay Products

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: GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
stomatocytosis i
  • overhydrated hereditary stomatocytosis
overhydrated hereditary stomatocytosis
  • ohst
cryohydrocytosis
  • chc
hemolytic anemia
  • anemia hemolytic
malaria
  • malaria, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search STOM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for STOM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes. (PMID: 19696025) Mairhofer M … Prohaska R (The Journal of biological chemistry 2009) 3 4 22 58
  2. Characterization of the stomatin domain involved in homo-oligomerization and lipid raft association. (PMID: 16766530) Umlauf E … Prohaska R (The Journal of biological chemistry 2006) 3 4 22 58
  3. Cysteine 29 is the major palmitoylation site on stomatin. (PMID: 10338112) Snyers L … Prohaska R (FEBS letters 1999) 3 4 22 58
  4. Isolation, molecular characterization, and tissue-specific expression of a novel putative G protein-coupled receptor. (PMID: 9512664) Mayer H … Prohaska R (Biochimica et biophysica acta 1998) 3 4 22 58
  5. Oligomeric nature of the integral membrane protein stomatin. (PMID: 9642292) Snyers L … Prohaska R (The Journal of biological chemistry 1998) 3 4 22 58

Products for STOM Gene

Sources for STOM Gene

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