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TMEM120B (transmembrane protein 120B)

Identity

Other alias-
HGNC (Hugo) TMEM120B
LocusID (NCBI) 144404
Atlas_Id 54708
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 121712752 and ends at 121782068 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TMEM120B (12q24.31) / AVIL (12q14.1)TMEM120B (12q24.31) / PLEKHO1 (1q21.2)TMEM120B (12q24.31) / RNFT2 (12q24.22)
TMEM120B (12q24.31) / TMEM120B (12q24.31)TMEM120B (12q24.31) / WDR66 (12q24.31)TMEM120B 12q24.31 / AVIL 12q14.1

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)TMEM120B   32008
Cards
Entrez_Gene (NCBI)TMEM120B  144404  transmembrane protein 120B
Aliases
GeneCards (Weizmann)TMEM120B
Ensembl hg19 (Hinxton)ENSG00000188735 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188735 [Gene_View]  chr12:121712752-121782068 [Contig_View]  TMEM120B [Vega]
ICGC DataPortalENSG00000188735
TCGA cBioPortalTMEM120B
AceView (NCBI)TMEM120B
Genatlas (Paris)TMEM120B
WikiGenes144404
SOURCE (Princeton)TMEM120B
Genetics Home Reference (NIH)TMEM120B
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM120B  -     chr12:121712752-121782068 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM120B  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblTMEM120B - 12q24.31 [CytoView hg19]  TMEM120B - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBITMEM120B [Mapview hg19]  TMEM120B [Mapview hg38]
OMIM616551   
Gene and transcription
Genbank (Entrez)AK123181 AK126568 BC018721 BC032529 BC035884
RefSeq transcript (Entrez)NM_001080825
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM120B
Cluster EST : UnigeneHs.744740 [ NCBI ]
CGAP (NCI)Hs.744740
Alternative Splicing GalleryENSG00000188735
Gene ExpressionTMEM120B [ NCBI-GEO ]   TMEM120B [ EBI - ARRAY_EXPRESS ]   TMEM120B [ SEEK ]   TMEM120B [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM120B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)144404
GTEX Portal (Tissue expression)TMEM120B
Protein : pattern, domain, 3D structure
UniProt/SwissProtA0PK00   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA0PK00  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA0PK00
Splice isoforms : SwissVarA0PK00
PhosPhoSitePlusA0PK00
Domains : Interpro (EBI)TMPIT   
Domain families : Pfam (Sanger)TMPIT (PF07851)   
Domain families : Pfam (NCBI)pfam07851   
Conserved Domain (NCBI)TMEM120B
DMDM Disease mutations144404
Blocks (Seattle)TMEM120B
SuperfamilyA0PK00
Human Protein AtlasENSG00000188735
Peptide AtlasA0PK00
IPIIPI00815976   IPI01014269   IPI01013519   
Protein Interaction databases
DIP (DOE-UCLA)A0PK00
IntAct (EBI)A0PK00
FunCoupENSG00000188735
BioGRIDTMEM120B
STRING (EMBL)TMEM120B
ZODIACTMEM120B
Ontologies - Pathways
QuickGOA0PK00
Ontology : AmiGOmolecular_function  protein binding  cellular_component  nuclear inner membrane  nuclear inner membrane  biological_process  integral component of membrane  fat cell differentiation  fat cell differentiation  protein heterooligomerization  
Ontology : EGO-EBImolecular_function  protein binding  cellular_component  nuclear inner membrane  nuclear inner membrane  biological_process  integral component of membrane  fat cell differentiation  fat cell differentiation  protein heterooligomerization  
NDEx NetworkTMEM120B
Atlas of Cancer Signalling NetworkTMEM120B
Wikipedia pathwaysTMEM120B
Orthology - Evolution
OrthoDB144404
GeneTree (enSembl)ENSG00000188735
Phylogenetic Trees/Animal Genes : TreeFamTMEM120B
HOVERGENA0PK00
HOGENOMA0PK00
Homologs : HomoloGeneTMEM120B
Homology/Alignments : Family Browser (UCSC)TMEM120B
Gene fusions - Rearrangements
Fusion : MitelmanTMEM120B/AVIL [12q24.31/12q14.1]  
Fusion : MitelmanTMEM120B/RNFT2 [12q24.31/12q24.22]  [t(12;12)(q24;q24)]  
Fusion: TCGATMEM120B 12q24.31 AVIL 12q14.1 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM120B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM120B
dbVarTMEM120B
ClinVarTMEM120B
1000_GenomesTMEM120B 
Exome Variant ServerTMEM120B
ExAC (Exome Aggregation Consortium)TMEM120B (select the gene name)
Genetic variants : HAPMAP144404
Genomic Variants (DGV)TMEM120B [DGVbeta]
DECIPHERTMEM120B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM120B 
Mutations
ICGC Data PortalTMEM120B 
TCGA Data PortalTMEM120B 
Broad Tumor PortalTMEM120B
OASIS PortalTMEM120B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM120B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM120B
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 TMEM120B
DgiDB (Drug Gene Interaction Database)TMEM120B
DoCM (Curated mutations)TMEM120B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM120B (select a term)
intoGenTMEM120B
Cancer3DTMEM120B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616551   
Orphanet
MedgenTMEM120B
Genetic Testing Registry TMEM120B
NextProtA0PK00 [Medical]
TSGene144404
GENETestsTMEM120B
Target ValidationTMEM120B
Huge Navigator TMEM120B [HugePedia]
snp3D : Map Gene to Disease144404
BioCentury BCIQTMEM120B
ClinGenTMEM120B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD144404
Chemical/Pharm GKB GenePA162405862
Clinical trialTMEM120B
Miscellaneous
canSAR (ICR)TMEM120B (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM120B
EVEXTMEM120B
GoPubMedTMEM120B
iHOPTMEM120B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:09:54 CEST 2017

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