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Gene id 2040
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol STOM   Gene   UCSC   Ensembl
Aliases BND7, EPB7, EPB72
Gene name stomatin
Alternate names erythrocyte band 7 integral membrane protein, erythrocyte membrane protein band 7.2 (stomatin), erythrocyte surface protein band 7.2, protein 7.2b,
Gene location 9q33.2 (168093006: 168053094)     Exons: 19     NC_000006.12
Gene summary(Entrez) 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
OMIM 133090

Protein Summary
Protein general information P27105  

Name: Erythrocyte band 7 integral membrane protein (Protein 7.2b) (Stomatin)

Length: 288  Mass: 31731

Tissue specificity: Detected in erythrocytes (at protein level). Widely expressed. {ECO

Sequence MAEKRHTRDSEAQRLPDSFKDSPSKGLGPCGWILVAFSFLFTVITFPISIWMCIKIIKEYERAIIFRLGRILQGG
AKGPGLFFILPCTDSFIKVDMRTISFDIPPQEILTKDSVTISVDGVVYYRVQNATLAVANITNADSATRLLAQTT
LRNVLGTKNLSQILSDREEIAHNMQSTLDDATDAWGIKVERVEIKDVKLPVQLQRAMAAEAEASREARAKVIAAE
GEMNASRALKEASMVITESPAALQLRYLQTLTTIAAEKNSTIVFPLPIDMLQGIIGAKHSHLG
Structural information
Interpro:  IPR001107  IPR036013  IPR018080  IPR028515  IPR001972  
Prosite:   PS01270
MINT:  
STRING:   ENSP00000286713
Other Databases GeneCards:  STOM  Malacards:  STOM

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0005886 plasma membrane
 IBA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005887 integral component of pla
sma membrane
 IEA cellular component
GO:0016020 membrane
 IEA cellular component
GO:0031410 cytoplasmic vesicle
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0016020 membrane
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005856 cytoskeleton
 IEA cellular component
GO:0070063 RNA polymerase binding
 IPI molecular function
GO:0005783 endoplasmic reticulum
 IDA cellular component
GO:0005739 mitochondrion
 IDA cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0035577 azurophil granule membran
e
 TAS cellular component
GO:0035579 specific granule membrane
 TAS cellular component
GO:0043312 neutrophil degranulation
 TAS biological process
GO:0070821 tertiary granule membrane
 TAS cellular component
GO:0042802 identical protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0048524 positive regulation of vi
ral process
 IEA biological process
GO:0048471 perinuclear region of cyt
oplasm
 IEA cellular component
GO:0044829 positive regulation by ho
st of viral genome replic
ation
 IEA biological process
GO:0042803 protein homodimerization
activity
 IEA molecular function
GO:1901585 regulation of acid-sensin
g ion channel activity
 IEA biological process
GO:0090314 positive regulation of pr
otein targeting to membra
ne
 IEA biological process
GO:0042802 identical protein binding
 IEA molecular function
GO:0034765 regulation of ion transme
mbrane transport
 IEA biological process
GO:0005887 integral component of pla
sma membrane
 IEA cellular component
GO:0005739 mitochondrion
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0045121 membrane raft
 IEA cellular component
GO:0005856 cytoskeleton
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0042470 melanosome
 IEA cellular component
GO:0045121 membrane raft
 IDA cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0005887 integral component of pla
sma membrane
 IDA cellular component
GO:0005856 cytoskeleton
 IDA cellular component
GO:0070062 extracellular exosome
 HDA cellular component
GO:0070062 extracellular exosome
 HDA cellular component
GO:0072562 blood microparticle
 HDA cellular component
GO:0031982 vesicle
 HDA cellular component
GO:0016020 membrane
 HDA cellular component
GO:0005615 extracellular space
 HDA cellular component
GO:0070062 extracellular exosome
 HDA cellular component
GO:0042802 identical protein binding
 IPI molecular function

Diseases

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Associated diseases References
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Hypospermatogenesis MIK: 28361989
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
28361989 Hyposperma
togenesis
6 (3 controls,
3 Klienfelter s
yndrome
 Male infertility Microarray
 Show abstract