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IFT52 (intraflagellar transport 52)

Identity

Alias_namesC20orf9
chromosome 20 open reading frame 9
intraflagellar transport 52 homolog (Chlamydomonas)
Alias_symbol (synonym)CGI-53
NGD5
dJ1028D15.1
NGD2
Other alias
HGNC (Hugo) IFT52
LocusID (NCBI) 51098
Atlas_Id 56439
Location 20q13.12  [Link to chromosome band 20q13]
Location_base_pair Starts at 42219253 and ends at 42275936 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FUT8 (14q23.3) / IFT52 (20q13.12)IFT52 (20q13.12) / IFT52 (20q13.12)TRIO (5p15.2) / IFT52 (20q13.12)

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)IFT52   15901
Cards
Entrez_Gene (NCBI)IFT52  51098  intraflagellar transport 52
AliasesC20orf9; CGI-53; NGD2; NGD5
GeneCards (Weizmann)IFT52
Ensembl hg19 (Hinxton)ENSG00000101052 [Gene_View]  chr20:42219253-42275936 [Contig_View]  IFT52 [Vega]
Ensembl hg38 (Hinxton)ENSG00000101052 [Gene_View]  chr20:42219253-42275936 [Contig_View]  IFT52 [Vega]
ICGC DataPortalENSG00000101052
TCGA cBioPortalIFT52
AceView (NCBI)IFT52
Genatlas (Paris)IFT52
WikiGenes51098
SOURCE (Princeton)IFT52
Genetics Home Reference (NIH)IFT52
Genomic and cartography
GoldenPath hg19 (UCSC)IFT52  -     chr20:42219253-42275936 +  20q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IFT52  -     20q13.12   [Description]    (hg38-Dec_2013)
EnsemblIFT52 - 20q13.12 [CytoView hg19]  IFT52 - 20q13.12 [CytoView hg38]
Mapping of homologs : NCBIIFT52 [Mapview hg19]  IFT52 [Mapview hg38]
OMIM617094   617102   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001303458 NM_001303459 NM_001323578 NM_001323579 NM_001323580 NM_001323581 NM_016004
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IFT52
Cluster EST : UnigeneHs.444332 [ NCBI ]
CGAP (NCI)Hs.444332
Alternative Splicing GalleryENSG00000101052
Gene ExpressionIFT52 [ NCBI-GEO ]   IFT52 [ EBI - ARRAY_EXPRESS ]   IFT52 [ SEEK ]   IFT52 [ MEM ]
Gene Expression Viewer (FireBrowse)IFT52 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51098
GTEX Portal (Tissue expression)IFT52
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y366   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y366  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y366
Splice isoforms : SwissVarQ9Y366
PhosPhoSitePlusQ9Y366
Domains : Interpro (EBI)ABC_transp_unknown   
Domain families : Pfam (Sanger)ABC_transp_aux (PF09822)   
Domain families : Pfam (NCBI)pfam09822   
Conserved Domain (NCBI)IFT52
DMDM Disease mutations51098
Blocks (Seattle)IFT52
SuperfamilyQ9Y366
Human Protein AtlasENSG00000101052
Peptide AtlasQ9Y366
HPRD12789
IPIIPI00006535   IPI00909117   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y366
IntAct (EBI)Q9Y366
FunCoupENSG00000101052
BioGRIDIFT52
STRING (EMBL)IFT52
ZODIACIFT52
Ontologies - Pathways
QuickGOQ9Y366
Ontology : AmiGOneural tube formation  heart looping  centriole  smoothened signaling pathway  protein C-terminus binding  dorsal/ventral pattern formation  intraciliary transport particle B  motile cilium  photoreceptor connecting cilium  embryonic digit morphogenesis  dendrite terminus  negative regulation of epithelial cell proliferation  cilium morphogenesis  regulation of protein processing  primary cilium  ciliary tip  ciliary base  
Ontology : EGO-EBIneural tube formation  heart looping  centriole  smoothened signaling pathway  protein C-terminus binding  dorsal/ventral pattern formation  intraciliary transport particle B  motile cilium  photoreceptor connecting cilium  embryonic digit morphogenesis  dendrite terminus  negative regulation of epithelial cell proliferation  cilium morphogenesis  regulation of protein processing  primary cilium  ciliary tip  ciliary base  
NDEx NetworkIFT52
Atlas of Cancer Signalling NetworkIFT52
Wikipedia pathwaysIFT52
Orthology - Evolution
OrthoDB51098
GeneTree (enSembl)ENSG00000101052
Phylogenetic Trees/Animal Genes : TreeFamIFT52
HOVERGENQ9Y366
HOGENOMQ9Y366
Homologs : HomoloGeneIFT52
Homology/Alignments : Family Browser (UCSC)IFT52
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIFT52 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IFT52
dbVarIFT52
ClinVarIFT52
1000_GenomesIFT52 
Exome Variant ServerIFT52
ExAC (Exome Aggregation Consortium)IFT52 (select the gene name)
Genetic variants : HAPMAP51098
Genomic Variants (DGV)IFT52 [DGVbeta]
DECIPHER (Syndromes)20:42219253-42275936  ENSG00000101052
CONAN: Copy Number AnalysisIFT52 
Mutations
ICGC Data PortalIFT52 
TCGA Data PortalIFT52 
Broad Tumor PortalIFT52
OASIS PortalIFT52 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIFT52  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIFT52
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 IFT52
DgiDB (Drug Gene Interaction Database)IFT52
DoCM (Curated mutations)IFT52 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IFT52 (select a term)
intoGenIFT52
Cancer3DIFT52(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617094    617102   
Orphanet
MedgenIFT52
Genetic Testing Registry IFT52
NextProtQ9Y366 [Medical]
TSGene51098
GENETestsIFT52
Huge Navigator IFT52 [HugePedia]
snp3D : Map Gene to Disease51098
BioCentury BCIQIFT52
ClinGenIFT52
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51098
Chemical/Pharm GKB GenePA25796
Clinical trialIFT52
Miscellaneous
canSAR (ICR)IFT52 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIFT52
EVEXIFT52
GoPubMedIFT52
iHOPIFT52
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:04:49 CEST 2017

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