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TMBIM4 (transmembrane BAX inhibitor motif containing 4)

Identity

Alias_symbol (synonym)CGI-119
S1R
ZPRO
LFG4
GAAP
Other alias
HGNC (Hugo) TMBIM4
LocusID (NCBI) 51643
Atlas_Id 50313
Location 12q14.3  [Link to chromosome band 12q14]
Location_base_pair Starts at 66136936 and ends at 66170072 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TMBIM4 (12q14.3) / INO80 (15q15.1)TMBIM4 (12q14.3) / MSRB3 (12q14.3)TMBIM4 (12q14.3) / TMEM131 (2q11.2)
TMBIM4 12q14.3 / INO80 15q15.1TMBIM4 12q14.3 / TMEM131 2q11.2

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)TMBIM4   24257
Cards
Entrez_Gene (NCBI)TMBIM4  51643  transmembrane BAX inhibitor motif containing 4
AliasesCGI-119; GAAP; LFG4; S1R; 
ZPRO
GeneCards (Weizmann)TMBIM4
Ensembl hg19 (Hinxton)ENSG00000155957 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000155957 [Gene_View]  chr12:66136936-66170072 [Contig_View]  TMBIM4 [Vega]
ICGC DataPortalENSG00000155957
TCGA cBioPortalTMBIM4
AceView (NCBI)TMBIM4
Genatlas (Paris)TMBIM4
WikiGenes51643
SOURCE (Princeton)TMBIM4
Genetics Home Reference (NIH)TMBIM4
Genomic and cartography
GoldenPath hg38 (UCSC)TMBIM4  -     chr12:66136936-66170072 -  12q14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMBIM4  -     12q14.3   [Description]    (hg19-Feb_2009)
EnsemblTMBIM4 - 12q14.3 [CytoView hg19]  TMBIM4 - 12q14.3 [CytoView hg38]
Mapping of homologs : NCBITMBIM4 [Mapview hg19]  TMBIM4 [Mapview hg38]
OMIM616874   
Gene and transcription
Genbank (Entrez)AF113127 AF151877 AF161526 AF182041 AF182414
RefSeq transcript (Entrez)NM_001282606 NM_001282609 NM_001282610 NM_016056
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMBIM4
Cluster EST : UnigeneHs.505934 [ NCBI ]
CGAP (NCI)Hs.505934
Alternative Splicing GalleryENSG00000155957
Gene ExpressionTMBIM4 [ NCBI-GEO ]   TMBIM4 [ EBI - ARRAY_EXPRESS ]   TMBIM4 [ SEEK ]   TMBIM4 [ MEM ]
Gene Expression Viewer (FireBrowse)TMBIM4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51643
GTEX Portal (Tissue expression)TMBIM4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HC24   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HC24  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HC24
Splice isoforms : SwissVarQ9HC24
PhosPhoSitePlusQ9HC24
Domains : Interpro (EBI)Bax_inhibitor_1-related   
Domain families : Pfam (Sanger)Bax1-I (PF01027)   
Domain families : Pfam (NCBI)pfam01027   
Conserved Domain (NCBI)TMBIM4
DMDM Disease mutations51643
Blocks (Seattle)TMBIM4
SuperfamilyQ9HC24
Human Protein AtlasENSG00000155957
Peptide AtlasQ9HC24
IPIIPI00908476   IPI00745238   IPI01019119   IPI00219780   IPI00793396   IPI00030035   IPI01011051   IPI01011480   IPI01010664   IPI01009844   IPI00385484   
Protein Interaction databases
DIP (DOE-UCLA)Q9HC24
IntAct (EBI)Q9HC24
FunCoupENSG00000155957
BioGRIDTMBIM4
STRING (EMBL)TMBIM4
ZODIACTMBIM4
Ontologies - Pathways
QuickGOQ9HC24
Ontology : AmiGOGolgi membrane  protein binding  Golgi stack  apoptotic process  integral component of membrane  negative regulation of apoptotic process  regulation of calcium-mediated signaling  
Ontology : EGO-EBIGolgi membrane  protein binding  Golgi stack  apoptotic process  integral component of membrane  negative regulation of apoptotic process  regulation of calcium-mediated signaling  
NDEx NetworkTMBIM4
Atlas of Cancer Signalling NetworkTMBIM4
Wikipedia pathwaysTMBIM4
Orthology - Evolution
OrthoDB51643
GeneTree (enSembl)ENSG00000155957
Phylogenetic Trees/Animal Genes : TreeFamTMBIM4
HOVERGENQ9HC24
HOGENOMQ9HC24
Homologs : HomoloGeneTMBIM4
Homology/Alignments : Family Browser (UCSC)TMBIM4
Gene fusions - Rearrangements
Fusion : MitelmanTMBIM4/INO80 [12q14.3/15q15.1]  
Fusion : MitelmanTMBIM4/MSRB3 [12q14.3/12q14.3]  [t(12;12)(q14;q14)]  
Fusion : MitelmanTMBIM4/TMEM131 [12q14.3/2q11.2]  [t(2;12)(q11;q14)]  
Fusion: TCGATMBIM4 12q14.3 INO80 15q15.1 BRCA
Fusion: TCGATMBIM4 12q14.3 TMEM131 2q11.2 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMBIM4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMBIM4
dbVarTMBIM4
ClinVarTMBIM4
1000_GenomesTMBIM4 
Exome Variant ServerTMBIM4
ExAC (Exome Aggregation Consortium)TMBIM4 (select the gene name)
Genetic variants : HAPMAP51643
Genomic Variants (DGV)TMBIM4 [DGVbeta]
DECIPHERTMBIM4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMBIM4 
Mutations
ICGC Data PortalTMBIM4 
TCGA Data PortalTMBIM4 
Broad Tumor PortalTMBIM4
OASIS PortalTMBIM4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMBIM4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMBIM4
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 TMBIM4
DgiDB (Drug Gene Interaction Database)TMBIM4
DoCM (Curated mutations)TMBIM4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMBIM4 (select a term)
intoGenTMBIM4
Cancer3DTMBIM4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616874   
Orphanet
MedgenTMBIM4
Genetic Testing Registry TMBIM4
NextProtQ9HC24 [Medical]
TSGene51643
GENETestsTMBIM4
Huge Navigator TMBIM4 [HugePedia]
snp3D : Map Gene to Disease51643
BioCentury BCIQTMBIM4
ClinGenTMBIM4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51643
Chemical/Pharm GKB GenePA142670805
Clinical trialTMBIM4
Miscellaneous
canSAR (ICR)TMBIM4 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMBIM4
EVEXTMBIM4
GoPubMedTMBIM4
iHOPTMBIM4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:41:12 CEST 2017

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