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TMEM216 (transmembrane protein 216)

Identity

Alias (NCBI)HSPC244
HGNC (Hugo) TMEM216
HGNC Alias symbMGC13379
HSPC244
JBTS2
HGNC Previous nameCORS2
 MKS2
HGNC Previous namecerebello-oculo-renal syndrome 2
 Meckel syndrome, type 2
LocusID (NCBI) 51259
Atlas_Id 74882
Location 11q12.2  [Link to chromosome band 11q12]
Location_base_pair Starts at 61392393 and ends at 61398863 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)
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    transmembrane protein 216
AliasesHSPC244
GeneCards (Weizmann)TMEM216
Ensembl hg19 (Hinxton)ENSG00000187049 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187049 [Gene_View]  ENSG00000187049 [Sequence]  chr11:61392393-61398863 [Contig_View]  TMEM216 [Vega]
ICGC DataPortalENSG00000187049
TCGA cBioPortalTMEM216
AceView (NCBI)TMEM216
Genatlas (Paris)TMEM216
SOURCE (Princeton)TMEM216
Genetics Home Reference (NIH)TMEM216
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM216  -     chr11:61392393-61398863 +  11q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM216  -     11q12.2   [Description]    (hg19-Feb_2009)
GoldenPathTMEM216 - 11q12.2 [CytoView hg19]  TMEM216 - 11q12.2 [CytoView hg38]
ImmunoBaseENSG00000187049
Genome Data Viewer NCBITMEM216 [Mapview hg19]  
OMIM603194   608091   613277   
Gene and transcription
Genbank (Entrez)AA022661 AF151078 AI434503 AK303687 BC011010
RefSeq transcript (Entrez)NM_001173990 NM_001173991 NM_001330285 NM_016499
Consensus coding sequences : CCDS (NCBI)TMEM216
Gene ExpressionTMEM216 [ NCBI-GEO ]   TMEM216 [ EBI - ARRAY_EXPRESS ]   TMEM216 [ SEEK ]   TMEM216 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM216 [ Firebrowse - Broad ]
GenevisibleExpression of TMEM216 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51259
GTEX Portal (Tissue expression)TMEM216
Human Protein AtlasENSG00000187049-TMEM216 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9P0N5
Domains : Interpro (EBI)Uncharacterised_TM-17   
Domain families : Pfam (Sanger)Transmemb_17 (PF09799)   
Domain families : Pfam (NCBI)pfam09799   
Conserved Domain (NCBI)TMEM216
SuperfamilyQ9P0N5
AlphaFold pdb e-kbQ9P0N5   
Human Protein Atlas [tissue]ENSG00000187049-TMEM216 [tissue]
HPRD14439
Protein Interaction databases
DIP (DOE-UCLA)Q9P0N5
IntAct (EBI)Q9P0N5
BioGRIDTMEM216
STRING (EMBL)TMEM216
ZODIACTMEM216
Ontologies - Pathways
QuickGOQ9P0N5
Ontology : AmiGOprotein binding  cytosol  cytoskeleton  cilium  integral component of membrane  ciliary transition zone  MKS complex  cilium assembly  ciliary basal body-plasma membrane docking  non-motile cilium assembly  
Ontology : EGO-EBIprotein binding  cytosol  cytoskeleton  cilium  integral component of membrane  ciliary transition zone  MKS complex  cilium assembly  ciliary basal body-plasma membrane docking  non-motile cilium assembly  
NDEx NetworkTMEM216
Atlas of Cancer Signalling NetworkTMEM216
Wikipedia pathwaysTMEM216
Orthology - Evolution
OrthoDB51259
GeneTree (enSembl)ENSG00000187049
Phylogenetic Trees/Animal Genes : TreeFamTMEM216
Homologs : HomoloGeneTMEM216
Homology/Alignments : Family Browser (UCSC)TMEM216
Gene fusions - Rearrangements
Fusion : QuiverTMEM216
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM216 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM216
dbVarTMEM216
ClinVarTMEM216
MonarchTMEM216
1000_GenomesTMEM216 
Exome Variant ServerTMEM216
GNOMAD BrowserENSG00000187049
Varsome BrowserTMEM216
ACMGTMEM216 variants
VarityQ9P0N5
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]  
Somatic Mutations in Cancer : COSMIC3DTMEM216
Mutations and Diseases : HGMDTMEM216
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMEM216
DgiDB (Drug Gene Interaction Database)TMEM216
DoCM (Curated mutations)TMEM216
CIViC (Clinical Interpretations of Variants in Cancer)TMEM216
Cancer3DTMEM216
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603194    608091    613277   
Orphanet280    519    2510   
DisGeNETTMEM216
MedgenTMEM216
Genetic Testing Registry TMEM216
NextProtQ9P0N5 [Medical]
GENETestsTMEM216
Target ValidationTMEM216
Huge Navigator TMEM216 [HugePedia]
ClinGenTMEM216
Clinical trials, drugs, therapy
MyCancerGenomeTMEM216
Protein Interactions : CTDTMEM216
Pharm GKB GenePA162406553
PharosQ9P0N5
Clinical trialTMEM216
Miscellaneous
canSAR (ICR)TMEM216
HarmonizomeTMEM216
DataMed IndexTMEM216
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMEM216
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 16:26:01 CEST 2021

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