Basic Information

Symbol
STOM
RNA class
mRNA
Alias
Stomatin BND7 EPB72 Erythrocyte Membrane Protein Band 7.2 (Stomatin) Erythrocyte Band 7 Integral Membrane Protein Protein 7.2b EPB7 Erythrocyte Membrane Protein Band 7.2 Erythrocyte Surface Protein Band 7.2
Location (GRCh38)
9:121338987-121370304
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Mechanical injury analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004099.6
Sequence length
3145.0 nt
GC content
0.4264

Transcripts

ID Sequence Length GC content
NM_001270526.2 NCBI
GCAUUCCCGGCGGCUCCGGGUUUGGCAACGAGGACGGGGGAGUGCGACU… 3054 nt 0.4211
NM_001270527.2 NCBI
GCAUUCCCGGCGGCUCCGGGUUUGGCAACGAGGACGGGGGAGUGCGACU… 1204 nt 0.4601
NM_004099.6 NCBI
GCAUUCCCGGCGGCUCCGGGUUUGGCAACGAGGACGGGGGAGUGCGACU… 3145 nt 0.4264
NM_198194.3 NCBI
GCAUUCCCGGCGGCUCCGGGUUUGGCAACGAGGACGGGGGAGUGCGACU… 2650 nt 0.4185
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]

Forensic Context

A study in Sprague-Dawley rats demonstrated that the mRNA expression of the STOM in contused skeletal muscle showed a significant time-dependent increase at 4 hours post-injury, a non-significant decrease at 8 hours, followed by increases again at 12 and 24 hours [Li et al. DOI:10.1007/s00414-023-03095-x].