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TMEM97 (transmembrane protein 97)

Identity

Alias (NCBI)MAC30
sigma2R
HGNC (Hugo) TMEM97
HGNC Alias symbMAC30
σ2R
HGNC Alias namesigma2 receptor
LocusID (NCBI) 27346
Atlas_Id 45539
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 28319200 and ends at 28328685 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)
PHF12 (17q11.2) / TMEM97 (17q11.2)TMEM222 (1p36.11) / TMEM97 (17q11.2)TMEM97 (17q11.2) / BLMH (17q11.2)
TMEM97 (17q11.2) / MFN2 (1p36.22)TMEM97 (17q11.2) / TMEM97 (17q11.2)PHF12 17q11.2 / TMEM97 17q11.2
TMEM97 17q11.2 / BLMH 17q11.2

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)TMEM97   28106
Cards
Entrez_Gene (NCBI)TMEM97    transmembrane protein 97
AliasesMAC30; sigma2R
GeneCards (Weizmann)TMEM97
Ensembl hg19 (Hinxton)ENSG00000109084 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109084 [Gene_View]  ENSG00000109084 [Sequence]  chr17:28319200-28328685 [Contig_View]  TMEM97 [Vega]
ICGC DataPortalENSG00000109084
TCGA cBioPortalTMEM97
AceView (NCBI)TMEM97
Genatlas (Paris)TMEM97
SOURCE (Princeton)TMEM97
Genetics Home Reference (NIH)TMEM97
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM97  -     chr17:28319200-28328685 +  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM97  -     17q11.2   [Description]    (hg19-Feb_2009)
GoldenPathTMEM97 - 17q11.2 [CytoView hg19]  TMEM97 - 17q11.2 [CytoView hg38]
ImmunoBaseENSG00000109084
Genome Data Viewer NCBITMEM97 [Mapview hg19]  
OMIM612912   
Gene and transcription
Genbank (Entrez)AK293331 AK299511 AK307678 BC017362 BC045655
RefSeq transcript (Entrez)NM_014573
Consensus coding sequences : CCDS (NCBI)TMEM97
Gene ExpressionTMEM97 [ NCBI-GEO ]   TMEM97 [ EBI - ARRAY_EXPRESS ]   TMEM97 [ SEEK ]   TMEM97 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM97 [ Firebrowse - Broad ]
GenevisibleExpression of TMEM97 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27346
GTEX Portal (Tissue expression)TMEM97
Human Protein AtlasENSG00000109084-TMEM97 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5BJF2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5BJF2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5BJF2
PhosPhoSitePlusQ5BJF2
Domaine pattern : Prosite (Expaxy)EXPERA (PS51751)   
Domains : Interpro (EBI)EXPERA    Sigma2_recept   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TMEM97
SuperfamilyQ5BJF2
AlphaFold pdb e-kbQ5BJF2   
Human Protein Atlas [tissue]ENSG00000109084-TMEM97 [tissue]
HPRD14343
Protein Interaction databases
DIP (DOE-UCLA)Q5BJF2
IntAct (EBI)Q5BJF2
BioGRIDTMEM97
STRING (EMBL)TMEM97
ZODIACTMEM97
Ontologies - Pathways
QuickGOQ5BJF2
Ontology : AmiGOregulation of cell growth  protein binding  lysosome  endoplasmic reticulum  endoplasmic reticulum  rough endoplasmic reticulum  plasma membrane  integral component of membrane  rough endoplasmic reticulum membrane  nuclear membrane  cholesterol homeostasis  
Ontology : EGO-EBIregulation of cell growth  protein binding  lysosome  endoplasmic reticulum  endoplasmic reticulum  rough endoplasmic reticulum  plasma membrane  integral component of membrane  rough endoplasmic reticulum membrane  nuclear membrane  cholesterol homeostasis  
NDEx NetworkTMEM97
Atlas of Cancer Signalling NetworkTMEM97
Wikipedia pathwaysTMEM97
Orthology - Evolution
OrthoDB27346
GeneTree (enSembl)ENSG00000109084
Phylogenetic Trees/Animal Genes : TreeFamTMEM97
Homologs : HomoloGeneTMEM97
Homology/Alignments : Family Browser (UCSC)TMEM97
Gene fusions - Rearrangements
Fusion : MitelmanPHF12/TMEM97 [17q11.2/17q11.2]  
Fusion : MitelmanTMEM97/BLMH [17q11.2/17q11.2]  
Fusion : QuiverTMEM97
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM97 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM97
dbVarTMEM97
ClinVarTMEM97
MonarchTMEM97
1000_GenomesTMEM97 
Exome Variant ServerTMEM97
GNOMAD BrowserENSG00000109084
Varsome BrowserTMEM97
ACMGTMEM97 variants
VarityQ5BJF2
Genomic Variants (DGV)TMEM97 [DGVbeta]
DECIPHERTMEM97 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM97 
Mutations
ICGC Data PortalTMEM97 
TCGA Data PortalTMEM97 
Broad Tumor PortalTMEM97
OASIS PortalTMEM97 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM97  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMEM97
Mutations and Diseases : HGMDTMEM97
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMEM97
DgiDB (Drug Gene Interaction Database)TMEM97
DoCM (Curated mutations)TMEM97
CIViC (Clinical Interpretations of Variants in Cancer)TMEM97
Cancer3DTMEM97
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612912   
Orphanet
DisGeNETTMEM97
MedgenTMEM97
Genetic Testing Registry TMEM97
NextProtQ5BJF2 [Medical]
GENETestsTMEM97
Target ValidationTMEM97
Huge Navigator TMEM97 [HugePedia]
ClinGenTMEM97
Clinical trials, drugs, therapy
MyCancerGenomeTMEM97
Protein Interactions : CTDTMEM97
Pharm GKB GenePA143485635
PharosQ5BJF2
Clinical trialTMEM97
Miscellaneous
canSAR (ICR)TMEM97
HarmonizomeTMEM97
DataMed IndexTMEM97
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMEM97
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 15:35:34 CEST 2021

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