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ANKRD17 (ankyrin repeat domain 17)

Identity

Alias_symbol (synonym)GTAR
KIAA0697
FLJ22206
NY-BR-16
MASK2
Other alias
HGNC (Hugo) ANKRD17
LocusID (NCBI) 26057
Atlas_Id 646
Location 4q13.3  [Link to chromosome band 4q13]
Location_base_pair Starts at 73073966 and ends at 73223114 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANKRD17 (4q13.3) / ANKRD17 (4q13.3)ANKRD17 (4q13.3) / CD47 (3q13.12)ANKRD17 (4q13.3) / HS3ST1 (4p15.33)
ANKRD17 (4q13.3) / RPRD1B (20q11.23)ANKRD17 (4q13.3) / SQRDL (15q21.1)ANKRD17 (4q13.3) / WDFY3 (4q21.23)
GPM6A (4q34.2) / ANKRD17 (4q13.3)NIPBL (5p13.2) / ANKRD17 (4q13.3)RPRD1B (20q11.23) / ANKRD17 (4q13.3)
SETD4 (21q22.12) / ANKRD17 (4q13.3)SLC44A4 (6p21.33) / ANKRD17 (4q13.3)ANKRD17 4q13.3 / RPRD1B 20q11.23
ANKRD17 4q13.3 / SQRDL 15q21.1ANKRD17 4q13.3 / WDFY3 4q21.23NIPBL 5p13.2 / ANKRD17 4q13.3
RPRD1B 20q11.23 / ANKRD17 4q13.3

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)ANKRD17   23575
Cards
Entrez_Gene (NCBI)ANKRD17  26057  ankyrin repeat domain 17
AliasesGTAR; MASK2; NY-BR-16
GeneCards (Weizmann)ANKRD17
Ensembl hg19 (Hinxton)ENSG00000132466 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132466 [Gene_View]  chr4:73073966-73223114 [Contig_View]  ANKRD17 [Vega]
ICGC DataPortalENSG00000132466
TCGA cBioPortalANKRD17
AceView (NCBI)ANKRD17
Genatlas (Paris)ANKRD17
WikiGenes26057
SOURCE (Princeton)ANKRD17
Genetics Home Reference (NIH)ANKRD17
Genomic and cartography
GoldenPath hg38 (UCSC)ANKRD17  -     chr4:73073966-73223114 -  4q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKRD17  -     4q13.3   [Description]    (hg19-Feb_2009)
EnsemblANKRD17 - 4q13.3 [CytoView hg19]  ANKRD17 - 4q13.3 [CytoView hg38]
Mapping of homologs : NCBIANKRD17 [Mapview hg19]  ANKRD17 [Mapview hg38]
OMIM615929   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001286771 NM_015574 NM_032217 NM_198889
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKRD17
Cluster EST : UnigeneHs.743705 [ NCBI ]
CGAP (NCI)Hs.743705
Alternative Splicing GalleryENSG00000132466
Gene ExpressionANKRD17 [ NCBI-GEO ]   ANKRD17 [ EBI - ARRAY_EXPRESS ]   ANKRD17 [ SEEK ]   ANKRD17 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKRD17 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26057
GTEX Portal (Tissue expression)ANKRD17
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75179   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75179  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75179
Splice isoforms : SwissVarO75179
PhosPhoSitePlusO75179
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    KH_TYPE_1 (PS50084)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    KH_dom    KH_dom_type_1   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    KH_1 (PF00013)   
Domain families : Pfam (NCBI)pfam12796    pfam00013   
Domain families : Smart (EMBL)ANK (SM00248)  KH (SM00322)  
Conserved Domain (NCBI)ANKRD17
DMDM Disease mutations26057
Blocks (Seattle)ANKRD17
SuperfamilyO75179
Human Protein AtlasENSG00000132466
Peptide AtlasO75179
HPRD10648
IPIIPI00784020   IPI00783186   IPI00251783   IPI00868922   IPI01010273   IPI00909867   IPI00953250   IPI00976634   IPI00966022   
Protein Interaction databases
DIP (DOE-UCLA)O75179
IntAct (EBI)O75179
FunCoupENSG00000132466
BioGRIDANKRD17
STRING (EMBL)ANKRD17
ZODIACANKRD17
Ontologies - Pathways
QuickGOO75179
Ontology : AmiGOchromatin  blood vessel maturation  chromatin binding  RNA binding  protein binding  nucleus  cytoplasm  regulation of DNA replication  membrane  viral process  nuclear membrane  defense response to bacterium  positive regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  positive regulation of cell cycle  negative regulation of smooth muscle cell differentiation  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of MDA-5 signaling pathway  positive regulation of RIG-I signaling pathway  
Ontology : EGO-EBIchromatin  blood vessel maturation  chromatin binding  RNA binding  protein binding  nucleus  cytoplasm  regulation of DNA replication  membrane  viral process  nuclear membrane  defense response to bacterium  positive regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  positive regulation of cell cycle  negative regulation of smooth muscle cell differentiation  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of MDA-5 signaling pathway  positive regulation of RIG-I signaling pathway  
NDEx NetworkANKRD17
Atlas of Cancer Signalling NetworkANKRD17
Wikipedia pathwaysANKRD17
Orthology - Evolution
OrthoDB26057
GeneTree (enSembl)ENSG00000132466
Phylogenetic Trees/Animal Genes : TreeFamANKRD17
HOVERGENO75179
HOGENOMO75179
Homologs : HomoloGeneANKRD17
Homology/Alignments : Family Browser (UCSC)ANKRD17
Gene fusions - Rearrangements
Fusion : MitelmanANKRD17/HS3ST1 [4q13.3/4p15.33]  
Fusion : MitelmanANKRD17/RPRD1B [4q13.3/20q11.23]  [t(4;20)(q13;q11)]  
Fusion : MitelmanANKRD17/SQRDL [4q13.3/15q21.1]  [t(4;15)(q13;q21)]  
Fusion : MitelmanANKRD17/WDFY3 [4q13.3/4q21.23]  [t(4;4)(q13;q21)]  
Fusion : MitelmanNIPBL/ANKRD17 [5p13.2/4q13.3]  [t(4;5)(q13;p13)]  
Fusion : MitelmanRPRD1B/ANKRD17 [20q11.23/4q13.3]  [t(4;20)(q13;q11)]  
Fusion: TCGAANKRD17 4q13.3 RPRD1B 20q11.23 BRCA
Fusion: TCGAANKRD17 4q13.3 SQRDL 15q21.1 LUAD
Fusion: TCGAANKRD17 4q13.3 WDFY3 4q21.23 BRCA
Fusion: TCGANIPBL 5p13.2 ANKRD17 4q13.3 BRCA
Fusion: TCGARPRD1B 20q11.23 ANKRD17 4q13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKRD17 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKRD17
dbVarANKRD17
ClinVarANKRD17
1000_GenomesANKRD17 
Exome Variant ServerANKRD17
ExAC (Exome Aggregation Consortium)ANKRD17 (select the gene name)
Genetic variants : HAPMAP26057
Genomic Variants (DGV)ANKRD17 [DGVbeta]
DECIPHERANKRD17 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKRD17 
Mutations
ICGC Data PortalANKRD17 
TCGA Data PortalANKRD17 
Broad Tumor PortalANKRD17
OASIS PortalANKRD17 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKRD17  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKRD17
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 ANKRD17
DgiDB (Drug Gene Interaction Database)ANKRD17
DoCM (Curated mutations)ANKRD17 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKRD17 (select a term)
intoGenANKRD17
Cancer3DANKRD17(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615929   
Orphanet
MedgenANKRD17
Genetic Testing Registry ANKRD17
NextProtO75179 [Medical]
TSGene26057
GENETestsANKRD17
Target ValidationANKRD17
Huge Navigator ANKRD17 [HugePedia]
snp3D : Map Gene to Disease26057
BioCentury BCIQANKRD17
ClinGenANKRD17
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26057
Chemical/Pharm GKB GenePA134943225
Clinical trialANKRD17
Miscellaneous
canSAR (ICR)ANKRD17 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKRD17
EVEXANKRD17
GoPubMedANKRD17
iHOPANKRD17
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:54:59 CEST 2017

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