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STOM (stomatin)

Identity

Alias (NCBI)BND7
EPB7
EPB72
HGNC (Hugo) STOM
HGNC Alias symbBND7
HGNC Previous nameEPB7
 EPB72
HGNC Previous nameerythrocyte membrane protein band 7.2 (stomatin)
LocusID (NCBI) 2040
Atlas_Id 54975
Location 9q33.2  [Link to chromosome band 9q33]
Location_base_pair Starts at 121338987 and ends at 121370250 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    stomatin
AliasesBND7; EPB7; EPB72
GeneCards (Weizmann)STOM
Ensembl hg19 (Hinxton)ENSG00000148175 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000148175 [Gene_View]  ENSG00000148175 [Sequence]  chr9:121338987-121370250 [Contig_View]  STOM [Vega]
ICGC DataPortalENSG00000148175
TCGA cBioPortalSTOM
AceView (NCBI)STOM
Genatlas (Paris)STOM
SOURCE (Princeton)STOM
Genetics Home Reference (NIH)STOM
Genomic and cartography
GoldenPath hg38 (UCSC)STOM  -     chr9:121338987-121370250 -  9q33.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STOM  -     9q33.2   [Description]    (hg19-Feb_2009)
GoldenPathSTOM - 9q33.2 [CytoView hg19]  STOM - 9q33.2 [CytoView hg38]
ImmunoBaseENSG00000148175
Genome Data Viewer NCBISTOM [Mapview hg19]  
OMIM133090   
Gene and transcription
Genbank (Entrez)AI224884 AK302977 AK304449 AK304518 AK307999
RefSeq transcript (Entrez)NM_001270526 NM_001270527 NM_004099 NM_198194
Consensus coding sequences : CCDS (NCBI)STOM
Gene ExpressionSTOM [ NCBI-GEO ]   STOM [ EBI - ARRAY_EXPRESS ]   STOM [ SEEK ]   STOM [ MEM ]
Gene Expression Viewer (FireBrowse)STOM [ Firebrowse - Broad ]
GenevisibleExpression of STOM in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2040
GTEX Portal (Tissue expression)STOM
Human Protein AtlasENSG00000148175-STOM [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP27105
Domaine pattern : Prosite (Expaxy)BAND_7 (PS01270)   
Domains : Interpro (EBI)Band-7_stomatin-like    Band_7    Band_7/SPFH_dom_sf    Band_7/stomatin-like_CS    Stomatin    Stomatin_HflK_HflKC_fam   
Domain families : Pfam (Sanger)Band_7 (PF01145)   
Domain families : Pfam (NCBI)pfam01145   
Domain families : Smart (EMBL)PHB (SM00244)  
Conserved Domain (NCBI)STOM
SuperfamilyP27105
AlphaFold pdb e-kbP27105   
Human Protein Atlas [tissue]ENSG00000148175-STOM [tissue]
HPRD00585
Protein Interaction databases
DIP (DOE-UCLA)P27105
IntAct (EBI)P27105
BioGRIDSTOM
STRING (EMBL)STOM
ZODIACSTOM
Ontologies - Pathways
QuickGOP27105
Ontology : AmiGOprotein binding  extracellular space  mitochondrion  endoplasmic reticulum  cytoskeleton  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  membrane  vesicle  azurophil granule membrane  specific granule membrane  melanosome  identical protein binding  protein homodimerization activity  neutrophil degranulation  positive regulation by host of viral genome replication  membrane raft  perinuclear region of cytoplasm  positive regulation of viral process  extracellular exosome  RNA polymerase binding  tertiary granule membrane  blood microparticle  positive regulation of protein targeting to membrane  regulation of acid-sensing ion channel activity  
Ontology : EGO-EBIprotein binding  extracellular space  mitochondrion  endoplasmic reticulum  cytoskeleton  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  membrane  vesicle  azurophil granule membrane  specific granule membrane  melanosome  identical protein binding  protein homodimerization activity  neutrophil degranulation  positive regulation by host of viral genome replication  membrane raft  perinuclear region of cytoplasm  positive regulation of viral process  extracellular exosome  RNA polymerase binding  tertiary granule membrane  blood microparticle  positive regulation of protein targeting to membrane  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
Homologs : HomoloGeneSTOM
Homology/Alignments : Family Browser (UCSC)STOM
Gene fusions - Rearrangements
Fusion : MitelmanRAB14/STOM [9q33.2/9q33.2]  
Fusion : MitelmanSTOM/DDX27 [9q33.2/20q13.13]  
Fusion : QuiverSTOM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTOM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STOM
dbVarSTOM
ClinVarSTOM
MonarchSTOM
1000_GenomesSTOM 
Exome Variant ServerSTOM
GNOMAD BrowserENSG00000148175
Varsome BrowserSTOM
ACMGSTOM variants
VarityP27105
Genomic Variants (DGV)STOM [DGVbeta]
DECIPHERSTOM [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DSTOM
Mutations and Diseases : HGMDSTOM
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSTOM
DgiDB (Drug Gene Interaction Database)STOM
DoCM (Curated mutations)STOM
CIViC (Clinical Interpretations of Variants in Cancer)STOM
Cancer3DSTOM
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133090   
Orphanet
DisGeNETSTOM
MedgenSTOM
Genetic Testing Registry STOM
NextProtP27105 [Medical]
GENETestsSTOM
Target ValidationSTOM
Huge Navigator STOM [HugePedia]
ClinGenSTOM
Clinical trials, drugs, therapy
MyCancerGenomeSTOM
Protein Interactions : CTDSTOM
Pharm GKB GenePA27816
PharosP27105
Clinical trialSTOM
Miscellaneous
canSAR (ICR)STOM
HarmonizomeSTOM
DataMed IndexSTOM
Probes
Litterature
PubMed119 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSTOM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:33:39 CEST 2021

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