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TMEM216 (transmembrane protein 216)

Identity

Alias_namesCORS2
MKS2
cerebello-oculo-renal syndrome 2
Meckel syndrome, type 2
Alias_symbol (synonym)MGC13379
HSPC244
JBTS2
Other alias
HGNC (Hugo) TMEM216
LocusID (NCBI) 51259
Atlas_Id 74882
Location 11q12.2  [Link to chromosome band 11q12]
Location_base_pair Starts at 61392360 and ends at 61398863 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TNFAIP8 (5q23.1) / TMEM216 (11q12.2)

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)TMEM216   25018
LRG (Locus Reference Genomic)LRG_698
Cards
Entrez_Gene (NCBI)TMEM216  51259  transmembrane protein 216
AliasesHSPC244
GeneCards (Weizmann)TMEM216
Ensembl hg19 (Hinxton)ENSG00000187049 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187049 [Gene_View]  chr11:61392360-61398863 [Contig_View]  TMEM216 [Vewa]
ICGC DataPortalENSG00000187049
TCGA cBioPortalTMEM216
AceView (NCBI)TMEM216
Genatlas (Paris)TMEM216
WikiGenes51259
SOURCE (Princeton)TMEM216
Genetics Home Reference (NIH)TMEM216
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM216  -     chr11:61392360-61398863 +  11q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM216  -     11q12.2   [Description]    (hg19-Feb_2009)
EnsemblTMEM216 - 11q12.2 [CytoView hg19]  TMEM216 - 11q12.2 [CytoView hg38]
Mapping of homologs : NCBITMEM216 [Mapview hg19]  TMEM216 [Mapview hg38]
OMIM603194   608091   613277   
Gene and transcription
Genbank (Entrez)AA022661 AF151078 AI434503 AK303687 BC011010
RefSeq transcript (Entrez)NM_001173990 NM_001173991 NM_001330285 NM_016499
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM216
Cluster EST : UnigeneHs.26745 [ NCBI ]
CGAP (NCI)Hs.26745
Alternative Splicing GalleryENSG00000187049
Gene ExpressionTMEM216 [ NCBI-GEO ]   TMEM216 [ EBI - ARRAY_EXPRESS ]   TMEM216 [ SEEK ]   TMEM216 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM216 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51259
GTEX Portal (Tissue expression)TMEM216
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P0N5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P0N5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P0N5
Splice isoforms : SwissVarQ9P0N5
PhosPhoSitePlusQ9P0N5
Domains : Interpro (EBI)Uncharacterised_TM-17   
Domain families : Pfam (Sanger)Transmemb_17 (PF09799)   
Domain families : Pfam (NCBI)pfam09799   
Conserved Domain (NCBI)TMEM216
DMDM Disease mutations51259
Blocks (Seattle)TMEM216
SuperfamilyQ9P0N5
Human Protein AtlasENSG00000187049
Peptide AtlasQ9P0N5
HPRD14439
IPIIPI00941579   IPI00956276   IPI00009441   
Protein Interaction databases
DIP (DOE-UCLA)Q9P0N5
IntAct (EBI)Q9P0N5
FunCoupENSG00000187049
BioGRIDTMEM216
STRING (EMBL)TMEM216
ZODIACTMEM216
Ontologies - Pathways
QuickGOQ9P0N5
Ontology : AmiGOcytosol  cytoskeleton  cilium  integral component of membrane  MKS complex  cilium assembly  ciliary basal body docking  
Ontology : EGO-EBIcytosol  cytoskeleton  cilium  integral component of membrane  MKS complex  cilium assembly  ciliary basal body docking  
NDEx NetworkTMEM216
Atlas of Cancer Signalling NetworkTMEM216
Wikipedia pathwaysTMEM216
Orthology - Evolution
OrthoDB51259
GeneTree (enSembl)ENSG00000187049
Phylogenetic Trees/Animal Genes : TreeFamTMEM216
HOVERGENQ9P0N5
HOGENOMQ9P0N5
Homologs : HomoloGeneTMEM216
Homology/Alignments : Family Browser (UCSC)TMEM216
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM216 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM216
dbVarTMEM216
ClinVarTMEM216
1000_GenomesTMEM216 
Exome Variant ServerTMEM216
ExAC (Exome Aggregation Consortium)TMEM216 (select the gene name)
Genetic variants : HAPMAP51259
Genomic Variants (DGV)TMEM216 [DGVbeta]
DECIPHERTMEM216 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM216 
Mutations
ICGC Data PortalTMEM216 
TCGA Data PortalTMEM216 
Broad Tumor PortalTMEM216
OASIS PortalTMEM216 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM216  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM216
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch TMEM216
DgiDB (Drug Gene Interaction Database)TMEM216
DoCM (Curated mutations)TMEM216 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM216 (select a term)
intoGenTMEM216
Cancer3DTMEM216(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603194    608091    613277   
Orphanet280    519    2510   
MedgenTMEM216
Genetic Testing Registry TMEM216
NextProtQ9P0N5 [Medical]
TSGene51259
GENETestsTMEM216
Target ValidationTMEM216
Huge Navigator TMEM216 [HugePedia]
snp3D : Map Gene to Disease51259
BioCentury BCIQTMEM216
ClinGenTMEM216
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51259
Chemical/Pharm GKB GenePA162406553
Clinical trialTMEM216
Miscellaneous
canSAR (ICR)TMEM216 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM216
EVEXTMEM216
GoPubMedTMEM216
iHOPTMEM216
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 13:41:51 CEST 2017

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