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TMBIM6 (transmembrane BAX inhibitor motif containing 6)

Identity

Alias_namesTEGT
testis enhanced gene transcript
Alias_symbol (synonym)BI-1
BAXI1
Other alias
HGNC (Hugo) TMBIM6
LocusID (NCBI) 7009
Atlas_Id 45568
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 49741809 and ends at 49764934 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)
ATP6V1G1 (9q32) / TMBIM6 (12q13.12)BRD2 (6p21.32) / TMBIM6 (12q13.12)DGAT2 (11q13.5) / TMBIM6 (12q13.12)
DIP2B (12q13.12) / TMBIM6 (12q13.12)KCNK2 (1q41) / TMBIM6 (12q13.12)LARP4 (12q13.12) / TMBIM6 (12q13.12)
MALAT1 (11q13.1) / TMBIM6 (12q13.12)RBM26 (13q31.1) / TMBIM6 (12q13.12)RBMS2 (12q13.3) / TMBIM6 (12q13.12)
TMBIM6 (12q13.12) / COX16 (14q24.2)TMBIM6 (12q13.12) / GPM6A (4q34.2)TMBIM6 (12q13.12) / INPP1 (2q32.2)
TMBIM6 (12q13.12) / NOTCH2 (1p12)TMBIM6 (12q13.12) / RPS6KA1 (1p36.11)TMBIM6 (12q13.12) / SLC35A4 (5q31.3)
TMBIM6 (12q13.12) / TMBIM6 (12q13.12)DIP2B 12q13.12 / TMBIM6 12q13.12

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)TMBIM6   11723
Cards
Entrez_Gene (NCBI)TMBIM6  7009  transmembrane BAX inhibitor motif containing 6
AliasesBAXI1; BI-1; TEGT
GeneCards (Weizmann)TMBIM6
Ensembl hg19 (Hinxton)ENSG00000139644 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139644 [Gene_View]  chr12:49741809-49764934 [Contig_View]  TMBIM6 [Vega]
ICGC DataPortalENSG00000139644
TCGA cBioPortalTMBIM6
AceView (NCBI)TMBIM6
Genatlas (Paris)TMBIM6
WikiGenes7009
SOURCE (Princeton)TMBIM6
Genetics Home Reference (NIH)TMBIM6
Genomic and cartography
GoldenPath hg38 (UCSC)TMBIM6  -     chr12:49741809-49764934 +  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMBIM6  -     12q13.12   [Description]    (hg19-Feb_2009)
EnsemblTMBIM6 - 12q13.12 [CytoView hg19]  TMBIM6 - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBITMBIM6 [Mapview hg19]  TMBIM6 [Mapview hg38]
OMIM600748   
Gene and transcription
Genbank (Entrez)AA057740 AF033095 AK026605 AK124849 AK130050
RefSeq transcript (Entrez)NM_001098576 NM_003217
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMBIM6
Cluster EST : UnigeneHs.743965 [ NCBI ]
CGAP (NCI)Hs.743965
Alternative Splicing GalleryENSG00000139644
Gene ExpressionTMBIM6 [ NCBI-GEO ]   TMBIM6 [ EBI - ARRAY_EXPRESS ]   TMBIM6 [ SEEK ]   TMBIM6 [ MEM ]
Gene Expression Viewer (FireBrowse)TMBIM6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7009
GTEX Portal (Tissue expression)TMBIM6
Human Protein AtlasENSG00000139644-TMBIM6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55061   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55061  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55061
Splice isoforms : SwissVarP55061
PhosPhoSitePlusP55061
Domaine pattern : Prosite (Expaxy)BI1 (PS01243)   
Domains : Interpro (EBI)Bax_inhbtr1_CS    Bax_inhibitor_1-related   
Domain families : Pfam (Sanger)Bax1-I (PF01027)   
Domain families : Pfam (NCBI)pfam01027   
Conserved Domain (NCBI)TMBIM6
DMDM Disease mutations7009
Blocks (Seattle)TMBIM6
SuperfamilyP55061
Human Protein Atlas [tissue]ENSG00000139644-TMBIM6 [tissue]
Peptide AtlasP55061
HPRD02851
IPIIPI00022748   IPI00922630   IPI00940690   IPI01022394   IPI00847321   IPI01022106   IPI01020851   IPI01022122   IPI01021770   IPI01022626   IPI01021122   IPI01022496   IPI01021470   IPI01022002   IPI01021643   IPI01022406   IPI01021313   
Protein Interaction databases
DIP (DOE-UCLA)P55061
IntAct (EBI)P55061
FunCoupENSG00000139644
BioGRIDTMBIM6
STRING (EMBL)TMBIM6
ZODIACTMBIM6
Ontologies - Pathways
QuickGOP55061
Ontology : AmiGOprotein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  autophagy  response to unfolded protein  negative regulation of calcium ion transport into cytosol  membrane  integral component of membrane  enzyme binding  ubiquitin protein ligase binding  mitochondrial membrane  negative regulation of protein binding  endoplasmic reticulum calcium ion homeostasis  negative regulation of apoptotic process  negative regulation of immunoglobulin secretion  endoribonuclease inhibitor activity  negative regulation of endoribonuclease activity  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  response to L-glutamate  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway  negative regulation of mRNA endonucleolytic cleavage involved in unfolded protein response  negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress  negative regulation of apoptotic signaling pathway  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  autophagy  response to unfolded protein  negative regulation of calcium ion transport into cytosol  membrane  integral component of membrane  enzyme binding  ubiquitin protein ligase binding  mitochondrial membrane  negative regulation of protein binding  endoplasmic reticulum calcium ion homeostasis  negative regulation of apoptotic process  negative regulation of immunoglobulin secretion  endoribonuclease inhibitor activity  negative regulation of endoribonuclease activity  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  response to L-glutamate  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway  negative regulation of mRNA endonucleolytic cleavage involved in unfolded protein response  negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress  negative regulation of apoptotic signaling pathway  
NDEx NetworkTMBIM6
Atlas of Cancer Signalling NetworkTMBIM6
Wikipedia pathwaysTMBIM6
Orthology - Evolution
OrthoDB7009
GeneTree (enSembl)ENSG00000139644
Phylogenetic Trees/Animal Genes : TreeFamTMBIM6
HOVERGENP55061
HOGENOMP55061
Homologs : HomoloGeneTMBIM6
Homology/Alignments : Family Browser (UCSC)TMBIM6
Gene fusions - Rearrangements
Fusion : MitelmanDIP2B/TMBIM6 [12q13.12/12q13.12]  [t(12;12)(q13;q13)]  
Fusion: TCGADIP2B 12q13.12 TMBIM6 12q13.12 GBM
Fusion: Tumor Portal TMBIM6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMBIM6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMBIM6
dbVarTMBIM6
ClinVarTMBIM6
1000_GenomesTMBIM6 
Exome Variant ServerTMBIM6
ExAC (Exome Aggregation Consortium)ENSG00000139644
GNOMAD BrowserENSG00000139644
Genetic variants : HAPMAP7009
Genomic Variants (DGV)TMBIM6 [DGVbeta]
DECIPHERTMBIM6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMBIM6 
Mutations
ICGC Data PortalTMBIM6 
TCGA Data PortalTMBIM6 
Broad Tumor PortalTMBIM6
OASIS PortalTMBIM6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMBIM6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMBIM6
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 TMBIM6
DgiDB (Drug Gene Interaction Database)TMBIM6
DoCM (Curated mutations)TMBIM6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMBIM6 (select a term)
intoGenTMBIM6
Cancer3DTMBIM6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600748   
Orphanet
MedgenTMBIM6
Genetic Testing Registry TMBIM6
NextProtP55061 [Medical]
TSGene7009
GENETestsTMBIM6
Target ValidationTMBIM6
Huge Navigator TMBIM6 [HugePedia]
snp3D : Map Gene to Disease7009
BioCentury BCIQTMBIM6
ClinGenTMBIM6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7009
Chemical/Pharm GKB GenePA36440
Clinical trialTMBIM6
Miscellaneous
canSAR (ICR)TMBIM6 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMBIM6
EVEXTMBIM6
GoPubMedTMBIM6
iHOPTMBIM6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:14:43 CET 2017

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