ENSG00000148175


Homo sapiens

Features
Gene ID: ENSG00000148175
  
Biological name :STOM
  
Synonyms : P27105 / STOM / stomatin
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q33.2
Gene start: 121338988
Gene end: 121370304
  
Corresponding Affymetrix probe sets: 201060_x_at (Human Genome U133 Plus 2.0 Array)   201061_s_at (Human Genome U133 Plus 2.0 Array)   201062_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000445764
Ensembl peptide - ENSP00000286713
Ensembl peptide - ENSP00000339607
NCBI entrez gene - 2040     See in Manteia.
OMIM - 133090
RefSeq - NM_001270527
RefSeq - NM_001270526
RefSeq - NM_004099
RefSeq - NM_198194
RefSeq Peptide - NP_001257456
RefSeq Peptide - NP_001257455
RefSeq Peptide - NP_937837
RefSeq Peptide - NP_004090
swissprot - P27105
swissprot - F8VSL7
swissprot - A0A024R882
Ensembl - ENSG00000148175
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 stomENSDARG00000003835Danio rerio
 STOMENSGALG00000001434Gallus gallus
 StomENSMUSG00000026880Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8TAV4 / STOML3 / stomatin like 3ENSG0000013311565
NPHS2 / Q9NP85 / NPHS2, podocinENSG0000011621846
Q9UBI4 / STOML1 / stomatin like 1ENSG0000006722128
Q9UJZ1 / STOML2 / stomatin like 2ENSG0000016528325


Protein motifs (from Interpro)
Interpro ID Name
 IPR001107  Band 7 domain
 IPR001972  Stomatin family
 IPR018080  Band 7/stomatin-like, conserved site
 IPR028515  Erythrocyte band 7 integral membrane protein (Stomatin)
 IPR036013  Band 7/SPFH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0044829 positive regulation by host of viral genome replication IEA
 biological_processGO:0048524 positive regulation of viral process IEA
 biological_processGO:0051260 protein homooligomerization IDA
 biological_processGO:0090314 positive regulation of protein targeting to membrane IEA
 biological_processGO:1901585 regulation of acid-sensing ion channel activity IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031982 vesicle HDA
 cellular_componentGO:0035577 azurophil granule membrane TAS
 cellular_componentGO:0035579 specific granule membrane TAS
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070821 tertiary granule membrane TAS
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0070063 RNA polymerase binding IPI


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001878 Hemolytic anemia 
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 HP:0001923 Reticulocytosis 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002904 Hyperbilirubinemia 
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 HP:0003575 Increased intracellular sodium 
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 HP:0004446 Stomatocytosis 
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 HP:0005502 Increased red cell osmotic fragility 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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