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STOM (stomatin)

Identity

Alias_namesEPB7
EPB72
erythrocyte membrane protein band 7.2 (stomatin)
Alias_symbol (synonym)BND7
Other alias
HGNC (Hugo) STOM
LocusID (NCBI) 2040
Atlas_Id 54975
Location 9q33.2  [Link to chromosome band 9q33]
Location_base_pair Starts at 124101266 and ends at 124132582 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PEBP1 (12q24.23) / STOM (9q33.2)RAB14 (9q33.2) / STOM (9q33.2)STOM (9q33.2) / DDX27 (20q13.13)
STOM (9q33.2) / PCYOX1L (5q32)STOM (9q33.2) / PRRC2C (1q24.3)STOM (9q33.2) / STOM (9q33.2)
STOM (9q33.2) / TTLL11 (9q33.2)ZBTB7B (1q21.3) / STOM (9q33.2)RAB14 9q33.2 / STOM 9q33.2
STOM 9q33.2 / DDX27 20q13.13

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)STOM   3383
Cards
Entrez_Gene (NCBI)STOM  2040  stomatin
AliasesBND7; EPB7; EPB72
GeneCards (Weizmann)STOM
Ensembl hg19 (Hinxton)ENSG00000148175 [Gene_View]  chr9:124101266-124132582 [Contig_View]  STOM [Vega]
Ensembl hg38 (Hinxton)ENSG00000148175 [Gene_View]  chr9:124101266-124132582 [Contig_View]  STOM [Vega]
ICGC DataPortalENSG00000148175
TCGA cBioPortalSTOM
AceView (NCBI)STOM
Genatlas (Paris)STOM
WikiGenes2040
SOURCE (Princeton)STOM
Genetics Home Reference (NIH)STOM
Genomic and cartography
GoldenPath hg19 (UCSC)STOM  -     chr9:124101266-124132582 -  9q33.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)STOM  -     9q33.2   [Description]    (hg38-Dec_2013)
EnsemblSTOM - 9q33.2 [CytoView hg19]  STOM - 9q33.2 [CytoView hg38]
Mapping of homologs : NCBISTOM [Mapview hg19]  STOM [Mapview hg38]
OMIM133090   185000   
Gene and transcription
Genbank (Entrez)AI224884 AK302977 AK304449 AK304518 AK307999
RefSeq transcript (Entrez)NM_001270526 NM_001270527 NM_004099 NM_198194
RefSeq genomic (Entrez)NC_000009 NC_018920 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)STOM
Cluster EST : UnigeneHs.253903 [ NCBI ]
CGAP (NCI)Hs.253903
Alternative Splicing GalleryENSG00000148175
Gene ExpressionSTOM [ NCBI-GEO ]   STOM [ EBI - ARRAY_EXPRESS ]   STOM [ SEEK ]   STOM [ MEM ]
Gene Expression Viewer (FireBrowse)STOM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2040
GTEX Portal (Tissue expression)STOM
Protein : pattern, domain, 3D structure
UniProt/SwissProtP27105   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP27105  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP27105
Splice isoforms : SwissVarP27105
PhosPhoSitePlusP27105
Domaine pattern : Prosite (Expaxy)BAND_7 (PS01270)   
Domains : Interpro (EBI)Band_7    Band_7/stomatin-like_CS    Stomatin    Stomatin_fam   
Domain families : Pfam (Sanger)Band_7 (PF01145)   
Domain families : Pfam (NCBI)pfam01145   
Domain families : Smart (EMBL)PHB (SM00244)  
Conserved Domain (NCBI)STOM
DMDM Disease mutations2040
Blocks (Seattle)STOM
SuperfamilyP27105
Human Protein AtlasENSG00000148175
Peptide AtlasP27105
HPRD00585
IPIIPI00219682   IPI01010887   IPI00910709   IPI00377081   
Protein Interaction databases
DIP (DOE-UCLA)P27105
IntAct (EBI)P27105
FunCoupENSG00000148175
BioGRIDSTOM
STRING (EMBL)STOM
ZODIACSTOM
Ontologies - Pathways
QuickGOP27105
Ontology : AmiGOpositive regulation of defense response to virus by host  protein binding  extracellular space  cytoplasm  mitochondrion  endoplasmic reticulum  cytoskeleton  integral component of plasma membrane  membrane  vesicle  melanosome  protein homodimerization activity  positive regulation by host of viral genome replication  membrane raft  perinuclear region of cytoplasm  protein homooligomerization  extracellular exosome  RNA polymerase binding  blood microparticle  positive regulation of protein targeting to membrane  mitophagy in response to mitochondrial depolarization  xenophagy  regulation of acid-sensing ion channel activity  
Ontology : EGO-EBIpositive regulation of defense response to virus by host  protein binding  extracellular space  cytoplasm  mitochondrion  endoplasmic reticulum  cytoskeleton  integral component of plasma membrane  membrane  vesicle  melanosome  protein homodimerization activity  positive regulation by host of viral genome replication  membrane raft  perinuclear region of cytoplasm  protein homooligomerization  extracellular exosome  RNA polymerase binding  blood microparticle  positive regulation of protein targeting to membrane  mitophagy in response to mitochondrial depolarization  xenophagy  regulation of acid-sensing ion channel activity  
NDEx NetworkSTOM
Atlas of Cancer Signalling NetworkSTOM
Wikipedia pathwaysSTOM
Orthology - Evolution
OrthoDB2040
GeneTree (enSembl)ENSG00000148175
Phylogenetic Trees/Animal Genes : TreeFamSTOM
HOVERGENP27105
HOGENOMP27105
Homologs : HomoloGeneSTOM
Homology/Alignments : Family Browser (UCSC)STOM
Gene fusions - Rearrangements
Fusion : MitelmanRAB14/STOM [9q33.2/9q33.2]  [t(9;9)(q33;q33)]  
Fusion : MitelmanSTOM/DDX27 [9q33.2/20q13.13]  [t(9;20)(q33;q13)]  
Fusion: TCGARAB14 9q33.2 STOM 9q33.2 LUAD
Fusion: TCGASTOM 9q33.2 DDX27 20q13.13 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTOM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STOM
dbVarSTOM
ClinVarSTOM
1000_GenomesSTOM 
Exome Variant ServerSTOM
ExAC (Exome Aggregation Consortium)STOM (select the gene name)
Genetic variants : HAPMAP2040
Genomic Variants (DGV)STOM [DGVbeta]
DECIPHER (Syndromes)9:124101266-124132582  ENSG00000148175
CONAN: Copy Number AnalysisSTOM 
Mutations
ICGC Data PortalSTOM 
TCGA Data PortalSTOM 
Broad Tumor PortalSTOM
OASIS PortalSTOM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTOM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTOM
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch STOM
DgiDB (Drug Gene Interaction Database)STOM
DoCM (Curated mutations)STOM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STOM (select a term)
intoGenSTOM
Cancer3DSTOM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133090    185000   
Orphanet
MedgenSTOM
Genetic Testing Registry STOM
NextProtP27105 [Medical]
TSGene2040
GENETestsSTOM
Huge Navigator STOM [HugePedia]
snp3D : Map Gene to Disease2040
BioCentury BCIQSTOM
ClinGenSTOM
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2040
Chemical/Pharm GKB GenePA27816
Clinical trialSTOM
Miscellaneous
canSAR (ICR)STOM (select the gene name)
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTOM
EVEXSTOM
GoPubMedSTOM
iHOPSTOM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:29:42 CET 2017

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