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TMBIM6 (transmembrane BAX inhibitor motif containing 6)

Identity

Alias (NCBI)BAXI1
BI-1
TEGT
HGNC (Hugo) TMBIM6
HGNC Alias symbBI-1
BAXI1
HGNC Alias nameBAX inhibitor 1
HGNC Previous nameTEGT
HGNC Previous nametestis enhanced gene transcript
LocusID (NCBI) 7009
Atlas_Id 45568
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 49741557 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    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]  ENSG00000139644 [Sequence]  chr12:49741557-49764934 [Contig_View]  TMBIM6 [Vega]
ICGC DataPortalENSG00000139644
TCGA cBioPortalTMBIM6
AceView (NCBI)TMBIM6
Genatlas (Paris)TMBIM6
SOURCE (Princeton)TMBIM6
Genetics Home Reference (NIH)TMBIM6
Genomic and cartography
GoldenPath hg38 (UCSC)TMBIM6  -     chr12:49741557-49764934 +  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMBIM6  -     12q13.12   [Description]    (hg19-Feb_2009)
GoldenPathTMBIM6 - 12q13.12 [CytoView hg19]  TMBIM6 - 12q13.12 [CytoView hg38]
ImmunoBaseENSG00000139644
Genome Data Viewer NCBITMBIM6 [Mapview hg19]  
OMIM600748   
Gene and transcription
Genbank (Entrez)AA057740 AF033095 AK026605 AK124849 AK130050
RefSeq transcript (Entrez)NM_001098576 NM_003217
Consensus coding sequences : CCDS (NCBI)TMBIM6
Gene ExpressionTMBIM6 [ NCBI-GEO ]   TMBIM6 [ EBI - ARRAY_EXPRESS ]   TMBIM6 [ SEEK ]   TMBIM6 [ MEM ]
Gene Expression Viewer (FireBrowse)TMBIM6 [ Firebrowse - Broad ]
GenevisibleExpression of TMBIM6 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
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
SuperfamilyP55061
AlphaFold pdb e-kbP55061   
Human Protein Atlas [tissue]ENSG00000139644-TMBIM6 [tissue]
HPRD02851
Protein Interaction databases
DIP (DOE-UCLA)P55061
IntAct (EBI)P55061
BioGRIDTMBIM6
STRING (EMBL)TMBIM6
ZODIACTMBIM6
Ontologies - Pathways
QuickGOP55061
Ontology : AmiGOnegative regulation of immunoglobulin production  protein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  autophagy  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 RNA splicing  cellular response to unfolded protein  negative regulation of apoptotic process  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 transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress  negative regulation of apoptotic signaling pathway  
Ontology : EGO-EBInegative regulation of immunoglobulin production  protein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  autophagy  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 RNA splicing  cellular response to unfolded protein  negative regulation of apoptotic process  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 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
Homologs : HomoloGeneTMBIM6
Homology/Alignments : Family Browser (UCSC)TMBIM6
Gene fusions - Rearrangements
Fusion : MitelmanDIP2B/TMBIM6 [12q13.12/12q13.12]  
Fusion : QuiverTMBIM6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMBIM6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMBIM6
dbVarTMBIM6
ClinVarTMBIM6
MonarchTMBIM6
1000_GenomesTMBIM6 
Exome Variant ServerTMBIM6
GNOMAD BrowserENSG00000139644
Varsome BrowserTMBIM6
ACMGTMBIM6 variants
VarityP55061
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]  
Somatic Mutations in Cancer : COSMIC3DTMBIM6
Mutations and Diseases : HGMDTMBIM6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMBIM6
DgiDB (Drug Gene Interaction Database)TMBIM6
DoCM (Curated mutations)TMBIM6
CIViC (Clinical Interpretations of Variants in Cancer)TMBIM6
Cancer3DTMBIM6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600748   
Orphanet
DisGeNETTMBIM6
MedgenTMBIM6
Genetic Testing Registry TMBIM6
NextProtP55061 [Medical]
GENETestsTMBIM6
Target ValidationTMBIM6
Huge Navigator TMBIM6 [HugePedia]
ClinGenTMBIM6
Clinical trials, drugs, therapy
MyCancerGenomeTMBIM6
Protein Interactions : CTDTMBIM6
Pharm GKB GenePA36440
PharosP55061
Clinical trialTMBIM6
Miscellaneous
canSAR (ICR)TMBIM6
HarmonizomeTMBIM6
DataMed IndexTMBIM6
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMBIM6
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 15:35:19 CEST 2021

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