STOM - stomatin Gene
Also Known as BND7; EPB7; EPB72
Species: Homo sapiens
About STOM
This gene has 3 transcripts (splice variants), 156 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 161.3), bone marrow (RPKM 127.5) and 23 other tissues.
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]
STOM Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001270526.2 | NP_001257455.1 | stomatin isoform c |
| NM_001270527.2 | NP_001257456.1 | stomatin isoform d |
| NM_004099.6 | NP_004090.4 | stomatin isoform a |
| NM_198194.3 | NP_937837.1 | stomatin isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables RNA polymerase binding |
IPI
IPI: Inferred from physical interaction
|
25262680 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
9642292 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19696025 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoskeleton |
IDA
IDA: Inferred from direct assay
|
1547348 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
25262680 | GOA |
| located in membrane raft |
IDA
IDA: Inferred from direct assay
|
12130500 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
25262680 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
1547348 | GOA |
STOM Protein Structure
Band_7: SPFH domain / Band 7 family (55 - 227)
- 0
- 100
- 200
- 288 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
stomatin |
|
STOM Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
STOM | P27105 | GRM2 | Homo sapiens | Q14416 | 32296183 | |
|
Intra
|
STOM | P27105 | TTMP | Homo sapiens | Q5BVD1 | 32296183 | |
|
Intra
|
STOM | P27105 | RTP2 | Homo sapiens | Q5QGT7 | 32296183 | |
|
Intra
|
STOM | P27105 | SLC35B4 | Homo sapiens | Q969S0 | 32296183 | |
|
Intra
|
STOM | P27105 | RPRM | Homo sapiens | Q9NS64 | 32296183 | |
|
Intra
|
STOM | P27105 | ATP1B3 | Homo sapiens | P54709 | 32296183 | |
|
Intra
|
STOM | P27105 | ORMDL1 | Homo sapiens | Q9P0S3 | 32296183 | |
|
Intra
|
STOM | P27105 | TMEM109 | Homo sapiens | Q9BVC6 | 32296183 | |
|
Intra
|
STOM | P27105 | CMTM5 | Homo sapiens | Q96DZ9-2 | 32296183 | |
|
Intra
|
STOM | P27105 | CFHR5 | Homo sapiens | Q9BXR6 | 32296183 | |
|
Intra
|
STOM | P27105 | TMEM254 | Homo sapiens | Q8TBM7 | 32296183 | |
|
Intra
|
STOM | P27105 | AIG1 | Homo sapiens | Q9NVV5-2 | 32296183 | |
|
Intra
|
STOM | P27105 | GIMAP1 | Homo sapiens | Q8WWP7 | 32296183 | |
|
Intra
|
STOM | P27105 | KTN1 | Homo sapiens | Q86UP2-3 | 32296183 | |
|
Intra
|
STOM | P27105 | CTXN3 | Homo sapiens | Q4LDR2 | 32296183 | |
|
Intra
|
STOM | P27105 | STOML1 | Homo sapiens | Q9UBI4 | 19696025 | |
|
Intra
|
STOM | P27105 | SLC4A1 | Homo sapiens | P02730 | 23219802 | |
|
Intra
|
STOM | P27105 | SLC4A1 | Homo sapiens | P02730 | 23219802 | |
|
Intra
|
STOM | P27105 | LNPEP | Homo sapiens | Q9UIQ6-2 | 32296183 | |
|
Intra
|
STOM | P27105 | FAXDC2 | Homo sapiens | Q96IV6 | 32296183 | |
|
Intra
|
STOM | P27105 | TSPO2 | Homo sapiens | Q5TGU0 | 32296183 | |
|
Intra
|
STOM | P27105 | CNIH3 | Homo sapiens | Q8TBE1 | 32296183 | |
|
Intra
|
STOM | P27105 | CLDN19 | Homo sapiens | Q8N6F1-2 | 32296183 | |
|
Intra
|
STOM | P27105 | TMEM203 | Homo sapiens | Q969S6 | 32296183 | |
|
Intra
|
STOM | P27105 | DAGLA | Homo sapiens | Q9Y4D2 | 32296183 | |
|
Intra
|
STOM | P27105 | TMEM208 | Homo sapiens | Q9BTX3 | 32296183 | |
|
Intra
|
STOM | P27105 | PTCH1 | Homo sapiens | Q13635-3 | 32296183 | |
|
Intra
|
STOM | P27105 | SFXN5 | Homo sapiens | Q8TD22 | 32296183 | |
|
Intra
|
STOM | P27105 | PEMT | Homo sapiens | Q9UBM1-2 | 32296183 | |
|
Intra
|
STOM | P27105 | TMEM86B | Homo sapiens | Q8N661 | 32296183 | |
|
Intra
|
STOM | P27105 | TMEM140 | Homo sapiens | Q9NV12 | 32296183 | |
|
Intra
|
STOM | P27105 | PMP22 | Homo sapiens | Q01453 | 32296183 | |
|
Intra
|
STOM | P27105 | TMEM60 | Homo sapiens | Q9H2L4 | 32296183 | |
|
Intra
|
STOM | P27105 | SFT2D1 | Homo sapiens | Q8WV19 | 32296183 | |
|
Intra
|
STOM | P27105 | TECR | Homo sapiens | Q9NZ01 | 32296183 | |
|
Intra
|
STOM | P27105 | SFXN1 | Homo sapiens | Q9H9B4 | 32296183 | |
|
Intra
|
STOM | P27105 | ATP6V0B | Homo sapiens | Q99437 | 32296183 | |
|
Intra
|
STOM | P27105 | NKG7 | Homo sapiens | Q16617 | 32296183 | |
|
Intra
|
STOM | P27105 | EMP1 | Homo sapiens | P54849 | 32296183 | |
|
Intra
|
STOM | P27105 | BNIP1 | Homo sapiens | Q12981 | 32296183 | |
|
Intra
|
STOM | P27105 | TMPO | Homo sapiens | P42167 | 32296183 | |
|
Intra
|
STOM | P27105 | GIMAP5 | Homo sapiens | Q96F15 | 32296183 | |
|
Intra
|
STOM | P27105 | BCL2L2 | Homo sapiens | Q92843 | 32296183 | |
|
Intra
|
STOM | P27105 | ERG28 | Homo sapiens | Q9UKR5 | 32296183 | |
|
Intra
|
STOM | P27105 | HMOX2 | Homo sapiens | P30519 | 32296183 | |
|
Intra
|
STOM | P27105 | FUNDC2 | Homo sapiens | Q9BWH2 | 32296183 | |
|
Intra
|
STOM | P27105 | ATP6V0C | Homo sapiens | P27449 | 32296183 | |
|
Intra
|
STOM | P27105 | WFDC2 | Homo sapiens | Q14508 | 32296183 | |
|
Intra
|
STOM | P27105 | TMEM98 | Homo sapiens | Q9Y2Y6 | 32296183 | |
|
Intra
|
STOM | P27105 | DVL3 | Homo sapiens | Q92997 | 25416956 | |
|
Intra
|
STOM | P27105 | DVL3 | Homo sapiens | Q92997 | 25416956 | |
|
Intra
|
STOM | P27105 | DVL3 | Homo sapiens | Q92997 | 25416956 | |
|
Intra
|
STOM | P27105 | SERP2 | Homo sapiens | Q8N6R1 | 32296183 | |
|
Intra
|
STOM | P27105 | YIPF6 | Homo sapiens | Q96EC8 | 32296183 | |
|
Intra
|
STOM | P27105 | TMEM14B | Homo sapiens | Q9NUH8 | 32296183 | |
|
Intra
|
STOM | P27105 | SMCO4 | Homo sapiens | Q9NRQ5 | 32296183 | |
|
Intra
|
STOM | P27105 | SELENOK | Homo sapiens | Q9Y6D0 | 32296183 | |
|
Intra
|
STOM | P27105 | MMP14 | Homo sapiens | P50281 | 32296183 |
Recombinant STOM Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P77216 | Stomatin/STOM Protein, Human (HEK293, Fc) | P27105 (K55-G288) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Overhydrated Hereditary Stomatocytosis |
|
|
| Cryohydrocytosis |
|
|
| Hereditary Stomatocytosis |
|
|
| Barbiturate Dependence |
|
|
| Hemolytic Anemia |
|
|
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
|
| Dystonia 9 |
|
|
| Malaria |
|
|
| Hereditary Elliptocytosis |
|
|
| Nephrotic Syndrome |
|
|
| Hereditary Spherocytosis |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | STOM | MGD | MGI:95403 |
| Bos taurus | STOM | VGNC | VGNC:35409 |
| Rattus norvegicus | STOM | RGD | RGD:1305109 |
| Canis familiaris | STOM | VGNC | VGNC:46931 |
| Felis catus | STOM | VGNC | VGNC:65792 |
| Macaca mulatta | STOM | VGNC | VGNC:78258 |
| Others | STOM | NCBI |