Version 5.4
Homo sapiens Gene: STOM
Summary
InnateDB Gene IDBG-83517.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol STOM
Gene Name stomatin
Synonyms BND7; EPB7; EPB72
Species Homo sapiens
Ensembl Gene ENSG00000148175
Encoded Proteins
IDBP-83519
stomatin
IDBP-83521
stomatin
IDBP-588291
stomatin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:121338988-121370304
Strand Reverse strand
Band q33.2
Transcripts
ENST00000286713 ENSP00000286713
ENST00000347359 ENSP00000339607
ENST00000538954 ENSP00000445764
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
Experimentally validated
Total 41 [view]
Protein-Protein 38 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0034765 regulation of ion transmembrane transport
GO:0051260 protein homooligomerization
GO:1901585 regulation of acid-sensing ion channel activity
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0042470 melanosome
GO:0045121 membrane raft
GO:0070062 extracellular vesicular exosome
GO:0072562 blood microparticle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026880
View Gene Order
ENSBTAG00000038375
Not yet available
Cross-References
SwissProt P27105
TrEMBL
UniProt Splice Variant
Entrez Gene 2040
UniGene Hs.253903
RefSeq NM_198194 NM_001270526 NM_001270527 NM_004099
HUGO HGNC:3383
OMIM 133090
CCDS CCDS6831 CCDS6830 CCDS75892
HPRD 00585
IMGT
EMBL AL161784 AL359644 BC010703 BI603242 CR542100 M81635 U33925 U33926 U33927 U33928 U33929 U33930 U33931 X60067 X85116 X85117
GenPept AAA58432 AAC50296 AAH10703 CAA42671 CAA59436 CAG46897 CAH70728 CAH70729 CAH72706 CAH72707
RNA Seq Atlas 2040

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca