Human Gene STOM (ENST00000286713.7_7) from GENCODE V47lift37
  Description: stomatin, transcript variant 5 (from RefSeq NR_073037.2)
Gencode Transcript: ENST00000286713.7_7
Gencode Gene: ENSG00000148175.13_10
Transcript (Including UTRs)
   Position: hg19 chr9:124,101,265-124,132,528 Size: 31,264 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr9:124,103,480-124,132,465 Size: 28,986 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:124,101,265-124,132,528)mRNA (may differ from genome)Protein (288 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: STOM_HUMAN
DESCRIPTION: RecName: Full=Erythrocyte band 7 integral membrane protein; AltName: Full=Protein 7.2b; AltName: Full=Stomatin;
FUNCTION: Thought to regulate cation conductance. May regulate ASIC2 and ASIC3 gating (By similarity).
SUBUNIT: Homooligomer containing between 9 and 12 monomers. Interacts with ASIC1, ASIC2 and ASIC3 (By similarity). Interacts with LANCL1.
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Lipid-anchor; Cytoplasmic side. Melanosome. Note=Exposed on the cytoplasmic surface of the membrane. Associated with lipid rafts. Concentrates preferentially in plasma membrane protrusions and in a juxta-nuclear region which may represent Golgi-derived vesicles. Colocalizes with actin. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
TISSUE SPECIFICITY: Widely expressed.
SIMILARITY: Belongs to the band 7/mec-2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: STOM
Diseases sorted by gene-association score: overhydrated hereditary stomatocytosis (15), cryohydrocytosis (11), malaria (2), acromesomelic dysplasia (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 124.18 RPKM in Adipose - Visceral (Omentum)
Total median expression: 2262.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.9063-0.395 Picture PostScript Text
3' UTR -583.002215-0.263 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001107 - Band_7
IPR018080 - Band_7/stomatin-like_CS
IPR001972 - Stomatin

Pfam Domains:
PF01145 - SPFH domain / Band 7 family

SCOP Domains:
117892 - Band 7/SPFH domain

ModBase Predicted Comparative 3D Structure on P27105
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0070063 RNA polymerase binding

Biological Process:
GO:0034765 regulation of ion transmembrane transport
GO:0043312 neutrophil degranulation
GO:0044829 positive regulation by host of viral genome replication
GO:0048524 positive regulation of viral process
GO:0051260 protein homooligomerization
GO:0090314 positive regulation of protein targeting to membrane
GO:1901585 regulation of acid-sensing ion channel activity

Cellular Component:
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0031410 cytoplasmic vesicle
GO:0031982 vesicle
GO:0035577 azurophil granule membrane
GO:0035579 specific granule membrane
GO:0042470 melanosome
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome
GO:0070821 tertiary granule membrane
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  LF205664 - JP 2014500723-A/13167: Polycomb-Associated Non-Coding RNAs.
M81635 - Homo sapiens stomatin peptide mRNA, complete cds.
BC010703 - Homo sapiens stomatin, mRNA (cDNA clone MGC:9177 IMAGE:3873494), complete cds.
AK304518 - Homo sapiens cDNA FLJ53133 complete cds, highly similar to Erythrocyte band 7 integral membrane protein.
AK304449 - Homo sapiens cDNA FLJ52062 complete cds, highly similar to Erythrocyte band 7 integral membrane protein.
AK307999 - Homo sapiens cDNA, FLJ97947.
X60067 - Human mRNA for erythrocyte band 7 integral membrane protein.
AK302977 - Homo sapiens cDNA FLJ61192 complete cds, highly similar to Erythrocyte band 7 integral membrane protein.
DQ891058 - Synthetic construct clone IMAGE:100003688; FLH168910.01X; RZPDo839E0694D stomatin (STOM) gene, encodes complete protein.
KJ896772 - Synthetic construct Homo sapiens clone ccsbBroadEn_06166 STOM gene, encodes complete protein.
CU679799 - Synthetic construct Homo sapiens gateway clone IMAGE:100018743 5' read STOM mRNA.
DQ894236 - Synthetic construct Homo sapiens clone IMAGE:100008696; FLH168906.01L; RZPDo839E0693D stomatin (STOM) gene, encodes complete protein.
CR542100 - Homo sapiens full open reading frame cDNA clone RZPDo834C1237D for gene STOM, stomatin; complete cds, without stopcodon.
AB528375 - Synthetic construct DNA, clone: pF1KB3464, Homo sapiens STOM gene for stomatin, without stop codon, in Flexi system.
MA441241 - JP 2018138019-A/13167: Polycomb-Associated Non-Coding RNAs.
JD269997 - Sequence 251021 from Patent EP1572962.
JD229492 - Sequence 210516 from Patent EP1572962.
JD073543 - Sequence 54567 from Patent EP1572962.
JD465105 - Sequence 446129 from Patent EP1572962.
LF346987 - JP 2014500723-A/154490: Polycomb-Associated Non-Coding RNAs.
JD243101 - Sequence 224125 from Patent EP1572962.
JD173223 - Sequence 154247 from Patent EP1572962.
JD301037 - Sequence 282061 from Patent EP1572962.
JD489573 - Sequence 470597 from Patent EP1572962.
JD439194 - Sequence 420218 from Patent EP1572962.
JD530651 - Sequence 511675 from Patent EP1572962.
JD548821 - Sequence 529845 from Patent EP1572962.
JD259943 - Sequence 240967 from Patent EP1572962.
JD091394 - Sequence 72418 from Patent EP1572962.
JD262672 - Sequence 243696 from Patent EP1572962.
LF346988 - JP 2014500723-A/154491: Polycomb-Associated Non-Coding RNAs.
JD308083 - Sequence 289107 from Patent EP1572962.
JD435384 - Sequence 416408 from Patent EP1572962.
JD341502 - Sequence 322526 from Patent EP1572962.
JD107702 - Sequence 88726 from Patent EP1572962.
JD318265 - Sequence 299289 from Patent EP1572962.
JD506068 - Sequence 487092 from Patent EP1572962.
JD207673 - Sequence 188697 from Patent EP1572962.
JD072329 - Sequence 53353 from Patent EP1572962.
JD225364 - Sequence 206388 from Patent EP1572962.
JD506067 - Sequence 487091 from Patent EP1572962.
JD345681 - Sequence 326705 from Patent EP1572962.
JD293310 - Sequence 274334 from Patent EP1572962.
JD562141 - Sequence 543165 from Patent EP1572962.
JD164626 - Sequence 145650 from Patent EP1572962.
JD053768 - Sequence 34792 from Patent EP1572962.
JD311505 - Sequence 292529 from Patent EP1572962.
JD196743 - Sequence 177767 from Patent EP1572962.
JD318025 - Sequence 299049 from Patent EP1572962.
JD262583 - Sequence 243607 from Patent EP1572962.
LF346989 - JP 2014500723-A/154492: Polycomb-Associated Non-Coding RNAs.
LF346990 - JP 2014500723-A/154493: Polycomb-Associated Non-Coding RNAs.
LF346991 - JP 2014500723-A/154494: Polycomb-Associated Non-Coding RNAs.
LF346992 - JP 2014500723-A/154495: Polycomb-Associated Non-Coding RNAs.
LF346994 - JP 2014500723-A/154497: Polycomb-Associated Non-Coding RNAs.
MA582564 - JP 2018138019-A/154490: Polycomb-Associated Non-Coding RNAs.
MA582565 - JP 2018138019-A/154491: Polycomb-Associated Non-Coding RNAs.
MA582566 - JP 2018138019-A/154492: Polycomb-Associated Non-Coding RNAs.
MA582567 - JP 2018138019-A/154493: Polycomb-Associated Non-Coding RNAs.
MA582568 - JP 2018138019-A/154494: Polycomb-Associated Non-Coding RNAs.
MA582569 - JP 2018138019-A/154495: Polycomb-Associated Non-Coding RNAs.
MA582571 - JP 2018138019-A/154497: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P27105 (Reactome details) participates in the following event(s):

R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798747 Exocytosis of tertiary granule membrane proteins
R-HSA-6798739 Exocytosis of azurophil granule membrane proteins
R-HSA-8863494 ASICs bind STOML3, (STOM)
R-HSA-6798695 Neutrophil degranulation
R-HSA-2672351 Stimuli-sensing channels
R-HSA-168249 Innate Immune System
R-HSA-983712 Ion channel transport
R-HSA-168256 Immune System
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: B1AM77, BND7 , ENST00000286713.1, ENST00000286713.2, ENST00000286713.3, ENST00000286713.4, ENST00000286713.5, ENST00000286713.6, EPB72 , NR_073037, P27105, Q14087, Q15609, Q5VX96, Q96FK4, STOM , STOM_HUMAN, uc317kkx.1, uc317kkx.2
UCSC ID: ENST00000286713.7_7
RefSeq Accession: NM_004099.6
Protein: P27105 (aka STOM_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.