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
stomatin
stomatin
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 2040
UniGene Hs.253903
RefSeq NM_001270527 NM_004099 NM_001270526 NM_198194
HUGO HGNC:3383
OMIM 133090
CCDS CCDS75892 CCDS6830 CCDS6831
HPRD 00585
IMGT
EMBL
GenPept
RNA Seq Atlas 2040