Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TMBIM1 (transmembrane BAX inhibitor motif containing 1)

Identity

Alias (NCBI)LFG3
MST100
MSTP100
PP1201
RECS1
HGNC (Hugo) TMBIM1
HGNC Alias symbPP1201
RECS1
LFG3
LocusID (NCBI) 64114
Atlas_Id 51179
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 218274199 and ends at 218292503 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)

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)TMBIM1   23410
Cards
Entrez_Gene (NCBI)TMBIM1    transmembrane BAX inhibitor motif containing 1
AliasesLFG3; MST100; MSTP100; PP1201; 
RECS1
GeneCards (Weizmann)TMBIM1
Ensembl hg19 (Hinxton)ENSG00000135926 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135926 [Gene_View]  ENSG00000135926 [Sequence]  chr2:218274199-218292503 [Contig_View]  TMBIM1 [Vega]
ICGC DataPortalENSG00000135926
TCGA cBioPortalTMBIM1
AceView (NCBI)TMBIM1
Genatlas (Paris)TMBIM1
SOURCE (Princeton)TMBIM1
Genetics Home Reference (NIH)TMBIM1
Genomic and cartography
GoldenPath hg38 (UCSC)TMBIM1  -     chr2:218274199-218292503 -  2q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMBIM1  -     2q35   [Description]    (hg19-Feb_2009)
GoldenPathTMBIM1 - 2q35 [CytoView hg19]  TMBIM1 - 2q35 [CytoView hg38]
ImmunoBaseENSG00000135926
Genome Data Viewer NCBITMBIM1 [Mapview hg19]  
OMIM610364   
Gene and transcription
Genbank (Entrez)AB257295 AF173384 AF193045 AK027755 AK075465
RefSeq transcript (Entrez)NM_001321427 NM_001321428 NM_001321429 NM_001321430 NM_001321432 NM_001321433 NM_001321435 NM_001321436 NM_001321438 NM_022152
Consensus coding sequences : CCDS (NCBI)TMBIM1
Gene ExpressionTMBIM1 [ NCBI-GEO ]   TMBIM1 [ EBI - ARRAY_EXPRESS ]   TMBIM1 [ SEEK ]   TMBIM1 [ MEM ]
Gene Expression Viewer (FireBrowse)TMBIM1 [ Firebrowse - Broad ]
GenevisibleExpression of TMBIM1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64114
GTEX Portal (Tissue expression)TMBIM1
Human Protein AtlasENSG00000135926-TMBIM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969X1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969X1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969X1
PhosPhoSitePlusQ969X1
Domains : Interpro (EBI)Bax_inhibitor_1-related   
Domain families : Pfam (Sanger)Bax1-I (PF01027)   
Domain families : Pfam (NCBI)pfam01027   
Conserved Domain (NCBI)TMBIM1
SuperfamilyQ969X1
AlphaFold pdb e-kbQ969X1   
Human Protein Atlas [tissue]ENSG00000135926-TMBIM1 [tissue]
HPRD17884
Protein Interaction databases
DIP (DOE-UCLA)Q969X1
IntAct (EBI)Q969X1
BioGRIDTMBIM1
STRING (EMBL)TMBIM1
ZODIACTMBIM1
Ontologies - Pathways
QuickGOQ969X1
Ontology : AmiGOdeath receptor binding  protein binding  lysosomal membrane  lysosomal membrane  Golgi apparatus  plasma membrane  endosome membrane  integral component of membrane  specific granule membrane  negative regulation of catalytic activity  intracellular membrane-bounded organelle  neutrophil degranulation  extracellular exosome  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of Fas signaling pathway  negative regulation of protein localization to plasma membrane  positive regulation of blood vessel remodeling  
Ontology : EGO-EBIdeath receptor binding  protein binding  lysosomal membrane  lysosomal membrane  Golgi apparatus  plasma membrane  endosome membrane  integral component of membrane  specific granule membrane  negative regulation of catalytic activity  intracellular membrane-bounded organelle  neutrophil degranulation  extracellular exosome  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of Fas signaling pathway  negative regulation of protein localization to plasma membrane  positive regulation of blood vessel remodeling  
NDEx NetworkTMBIM1
Atlas of Cancer Signalling NetworkTMBIM1
Wikipedia pathwaysTMBIM1
Orthology - Evolution
OrthoDB64114
GeneTree (enSembl)ENSG00000135926
Phylogenetic Trees/Animal Genes : TreeFamTMBIM1
Homologs : HomoloGeneTMBIM1
Homology/Alignments : Family Browser (UCSC)TMBIM1
Gene fusions - Rearrangements
Fusion : QuiverTMBIM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMBIM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMBIM1
dbVarTMBIM1
ClinVarTMBIM1
MonarchTMBIM1
1000_GenomesTMBIM1 
Exome Variant ServerTMBIM1
GNOMAD BrowserENSG00000135926
Varsome BrowserTMBIM1
ACMGTMBIM1 variants
VarityQ969X1
Genomic Variants (DGV)TMBIM1 [DGVbeta]
DECIPHERTMBIM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMBIM1 
Mutations
ICGC Data PortalTMBIM1 
TCGA Data PortalTMBIM1 
Broad Tumor PortalTMBIM1
OASIS PortalTMBIM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMBIM1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMBIM1
Mutations and Diseases : HGMDTMBIM1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMBIM1
DgiDB (Drug Gene Interaction Database)TMBIM1
DoCM (Curated mutations)TMBIM1
CIViC (Clinical Interpretations of Variants in Cancer)TMBIM1
Cancer3DTMBIM1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610364   
Orphanet
DisGeNETTMBIM1
MedgenTMBIM1
Genetic Testing Registry TMBIM1
NextProtQ969X1 [Medical]
GENETestsTMBIM1
Target ValidationTMBIM1
Huge Navigator TMBIM1 [HugePedia]
ClinGenTMBIM1
Clinical trials, drugs, therapy
MyCancerGenomeTMBIM1
Protein Interactions : CTDTMBIM1
Pharm GKB GenePA142670804
PharosQ969X1
Clinical trialTMBIM1
Miscellaneous
canSAR (ICR)TMBIM1
HarmonizomeTMBIM1
DataMed IndexTMBIM1
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMBIM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:35:19 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.