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].
Loading, please wait...
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namestomatin OMIM IDMIM:133090 Ensembl IDEnsembl:ENSG00000148175 HGNC IDHGNC:HGNC:3383 PHARMGKB IDPA27816 Map Location9q33.2 | |||||
GO terms in STOM
Loading, please wait...
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 |
Gene expression in normal tissue: STOM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in STOM
Loading, please wait...
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 |
Gene-Drug: Aster Plot
Loading, please wait...
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Showing 1 to 1 of 1 rows
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in STOM
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.