STOM

GENE INFORMATION

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Gene name

STOM (HGNC Symbol)

Synonyms

BND7, EPB7, EPB72

Description

stomatin (HGNC Symbol)

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]

Chromosome

9 (Chromosome progress)

Cytoband

q33.2

Chromosome location (bp)

124101355 - 124132531

Ensembl

ENSG00000148175 (version 73.37)

Entrez gene

2040

UniProt

P27105 (UniProt - Evidence at protein level)

neXtProt

NX_P27105

Antibodypedia

STOM antibodies
 

PROTEIN VIEW

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STOM-001
 
STOM-002
 
STOM-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

STOM-001 ENSP00000286713
ENST00000286713
P27105
Show all »
Show » Show » 288 31.7 No 1
STOM-002 ENSP00000339607
ENST00000347359
P27105
Show all »
Show » Show » 123 13.5 No 1
STOM-201 ENSP00000445764
ENST00000538954
B4E2V5
Show all »
Show » 237 26 No 0