STOM


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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
stomatinMIM:133090Ensembl:ENSG00000148175HGNC:HGNC:3383PA278169q33.2

Gene Categories:

TRANSPORTERION CHANNEL

GO terms in STOM


Term TypeEvidence TypeGO Term IDGO Des.
BPTASGO:0043312neutrophil degranulation
BPIEAGO:0044829positive regulation by host of viral genome replication
BPIDAGO:0051260protein homooligomerization
BPIEAGO:0090314positive regulation of protein targeting to membrane
BPIEAGO:1901585regulation of acid-sensing ion channel activity
CCHDAGO:0005615extracellular space
CCIDAGO:0005739mitochondrion
CCIDAGO:0005783endoplasmic reticulum
CCIDAGO:0005856cytoskeleton
CCTASGO:0005886plasma membrane
CCIDAGO:0005887integral component of plasma membrane
CCHDAGO:0016020membrane
CCHDAGO:0031982vesicle
CCTASGO:0035577azurophil granule membrane
CCTASGO:0035579specific granule membrane
CCIEAGO:0042470melanosome
CCIDAGO:0045121membrane raft
CCIEAGO:0048471perinuclear region of cytoplasm
CCHDAGO:0070062extracellular exosome
CCTASGO:0070821tertiary granule membrane
CCHDAGO:0072562blood microparticle
MFIPIGO:0005515protein binding
MFIEAGO:0042803protein homodimerization activity
MFIPIGO:0070063RNA polymerase binding

Gene expression in normal tissue: STOM

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in STOM


DatabasePathway IDPathway Des.
wikipathwaysWP2880Glucocorticoid Receptor Pathway
wikipathwaysWP2882Nuclear Receptors Meta-Pathway
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-2672351Stimuli-sensing channels
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-6798695Neutrophil degranulation
reactomeR-HSA-983712Ion channel transport

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in STOM

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