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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| stomatin | MIM:133090 | Ensembl:ENSG00000148175 | HGNC:HGNC:3383 | PA27816 | 9q33.2 |
GO terms in STOM
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IEA | GO:0044829 | positive regulation by host of viral genome replication |
| BP | IDA | GO:0051260 | protein homooligomerization |
| BP | IEA | GO:0090314 | positive regulation of protein targeting to membrane |
| BP | IEA | GO:1901585 | regulation of acid-sensing ion channel activity |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IDA | GO:0005856 | cytoskeleton |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| CC | HDA | GO:0016020 | membrane |
| CC | HDA | GO:0031982 | vesicle |
| CC | TAS | GO:0035577 | azurophil granule membrane |
| CC | TAS | GO:0035579 | specific granule membrane |
| CC | IEA | GO:0042470 | melanosome |
| CC | IDA | GO:0045121 | membrane raft |
| CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | TAS | GO:0070821 | tertiary granule membrane |
| CC | HDA | GO:0072562 | blood microparticle |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0042803 | protein homodimerization activity |
| MF | IPI | GO:0070063 | RNA polymerase binding |
Gene expression in normal tissue: STOM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in STOM
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2880 | Glucocorticoid Receptor Pathway |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-2672351 | Stimuli-sensing channels |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-983712 | Ion channel transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in STOM
CLASSFICATION
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