Seroatlas · Human Serome Atlas

STOM

Stomatin

Also known as: BND7, EPB7, EPB72, STOM_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P27105
Gene: STOM
Ensembl: ENSG00000148175
Chromosome: 9
Canonical length: 288 aa
Protein class: Plasma proteins, Predicted membrane proteins, Transporters
Subcellular location: Vesicles,Plasma membrane,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

288 residues, UniProt reviewed canonical sequence.

>P27105|STOM
     1  MAEKRHTRDS EAQRLPDSFK DSPSKGLGPC GWILVAFSFL FTVITFPISI WMCIKIIKEY
    61  ERAIIFRLGR ILQGGAKGPG LFFILPCTDS FIKVDMRTIS FDIPPQEILT KDSVTISVDG
   121  VVYYRVQNAT LAVANITNAD SATRLLAQTT LRNVLGTKNL SQILSDREEI AHNMQSTLDD
   181  ATDAWGIKVE RVEIKDVKLP VQLQRAMAAE AEASREARAK VIAAEGEMNA SRALKEASMV
   241  ITESPAALQL RYLQTLTTIA AEKNSTIVFP LPIDMLQGII GAKHSHLG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against STOM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.39
Highest tissue expression: 338 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 338 nTPM
liver: 332 nTPM
adipose tissue: 318 nTPM
placenta: 256 nTPM
lung: 233 nTPM
breast: 201 nTPM

Single-cell type

platelets: 1,321 nCPM
neutrophil progenitors: 1,253 nCPM
vascular endothelial cells: 573 nCPM
kupffer cells: 540 nCPM
smooth muscle cells: 482 nCPM
alveolar cells type 1: 459 nCPM

Immune cell

gdT-cell: 169 nTPM
MAIT T-cell: 166 nTPM
memory CD8 T-cell: 153 nTPM
NK-cell: 148 nTPM
total PBMC: 129 nTPM
memory CD4 T-cell: 85 nTPM

Brain region

medulla oblongata: 159 nTPM
midbrain: 146 nTPM
hypothalamus: 143 nTPM
thalamus: 139 nTPM
basal ganglia: 129 nTPM
pons: 128 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.14
gnomAD pLI: 0
gnomAD missense Z: 1.67
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of STOM in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads STOM as an antibody target. Whether an autoantibody or antibody against STOM could matter depends on whether native STOM is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

STOM is annotated at the cell surface, where native STOM is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label STOM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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