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ANKRD52 (ankyrin repeat domain 52)

Identity

Alias_symbol (synonym)FLJ34236
PP6-ARS-C
Other aliasANKRD33
HGNC (Hugo) ANKRD52
LocusID (NCBI) 283373
Atlas_Id 60357
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 56237807 and ends at 56258359 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANKRD52 (12q13.3) / CALD1 (7q33)ANKRD52 (12q13.3) / HIGD2A (5q35.2)ANKRD52 (12q13.3) / RPL13A (19q13.33)
ANKRD52 (12q13.3) / RPS21 (20q13.33)ANKRD52 (12q13.3) / SST (3q27.3)JUP (17q21.2) / ANKRD52 (12q13.3)
SST (3q27.3) / ANKRD52 (12q13.3)

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)ANKRD52   26614
Cards
Entrez_Gene (NCBI)ANKRD52  283373  ankyrin repeat domain 52
AliasesANKRD33
GeneCards (Weizmann)ANKRD52
Ensembl hg19 (Hinxton)ENSG00000139645 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139645 [Gene_View]  chr12:56237807-56258359 [Contig_View]  ANKRD52 [Vega]
ICGC DataPortalENSG00000139645
TCGA cBioPortalANKRD52
AceView (NCBI)ANKRD52
Genatlas (Paris)ANKRD52
WikiGenes283373
SOURCE (Princeton)ANKRD52
Genetics Home Reference (NIH)ANKRD52
Genomic and cartography
GoldenPath hg38 (UCSC)ANKRD52  -     chr12:56237807-56258359 -  12q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKRD52  -     12q13.3   [Description]    (hg19-Feb_2009)
EnsemblANKRD52 - 12q13.3 [CytoView hg19]  ANKRD52 - 12q13.3 [CytoView hg38]
Mapping of homologs : NCBIANKRD52 [Mapview hg19]  ANKRD52 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB190990 AK056831 AK125379 AK126893 AY358160
RefSeq transcript (Entrez)NM_173595
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKRD52
Cluster EST : UnigeneHs.524506 [ NCBI ]
CGAP (NCI)Hs.524506
Alternative Splicing GalleryENSG00000139645
Gene ExpressionANKRD52 [ NCBI-GEO ]   ANKRD52 [ EBI - ARRAY_EXPRESS ]   ANKRD52 [ SEEK ]   ANKRD52 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKRD52 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)283373
GTEX Portal (Tissue expression)ANKRD52
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NB46   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NB46  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NB46
Splice isoforms : SwissVarQ8NB46
PhosPhoSitePlusQ8NB46
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom   
Domain families : Pfam (Sanger)Ank (PF00023)    Ank_2 (PF12796)   
Domain families : Pfam (NCBI)pfam00023    pfam12796   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)ANKRD52
DMDM Disease mutations283373
Blocks (Seattle)ANKRD52
SuperfamilyQ8NB46
Human Protein AtlasENSG00000139645
Peptide AtlasQ8NB46
Protein Interaction databases
DIP (DOE-UCLA)Q8NB46
IntAct (EBI)Q8NB46
FunCoupENSG00000139645
BioGRIDANKRD52
STRING (EMBL)ANKRD52
ZODIACANKRD52
Ontologies - Pathways
QuickGOQ8NB46
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkANKRD52
Atlas of Cancer Signalling NetworkANKRD52
Wikipedia pathwaysANKRD52
Orthology - Evolution
OrthoDB283373
GeneTree (enSembl)ENSG00000139645
Phylogenetic Trees/Animal Genes : TreeFamANKRD52
HOVERGENQ8NB46
HOGENOMQ8NB46
Homologs : HomoloGeneANKRD52
Homology/Alignments : Family Browser (UCSC)ANKRD52
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKRD52 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKRD52
dbVarANKRD52
ClinVarANKRD52
1000_GenomesANKRD52 
Exome Variant ServerANKRD52
ExAC (Exome Aggregation Consortium)ANKRD52 (select the gene name)
Genetic variants : HAPMAP283373
Genomic Variants (DGV)ANKRD52 [DGVbeta]
DECIPHERANKRD52 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKRD52 
Mutations
ICGC Data PortalANKRD52 
TCGA Data PortalANKRD52 
Broad Tumor PortalANKRD52
OASIS PortalANKRD52 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKRD52  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKRD52
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 ANKRD52
DgiDB (Drug Gene Interaction Database)ANKRD52
DoCM (Curated mutations)ANKRD52 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKRD52 (select a term)
intoGenANKRD52
Cancer3DANKRD52(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenANKRD52
Genetic Testing Registry ANKRD52
NextProtQ8NB46 [Medical]
TSGene283373
GENETestsANKRD52
Huge Navigator ANKRD52 [HugePedia]
snp3D : Map Gene to Disease283373
BioCentury BCIQANKRD52
ClinGenANKRD52
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD283373
Chemical/Pharm GKB GenePA143485302
Clinical trialANKRD52
Miscellaneous
canSAR (ICR)ANKRD52 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKRD52
EVEXANKRD52
GoPubMedANKRD52
iHOPANKRD52
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 : Fri May 19 11:00:15 CEST 2017

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