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ANKH (ANKH inorganic pyrophosphate transport regulator)

Identity

Other namesANK
CCAL2
CMDJ
CPPDD
HANK
MANK
HGNC (Hugo) ANKH
LocusID (NCBI) 56172
Atlas_Id 643
Location 5p15.2
Location_base_pair Starts at 14704909 and ends at 14871887 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ANKH (5p15.2) / ARHGEF38 (4q24)ANKH (5p15.2) / DROSHA (5p13.3)ANKH (5p15.2) / EFEMP1 (2p16.1)
ANKH (5p15.2) / MXD3 (5q35.3)ANKH (5p15.2) / TENM2 (5q34)ANKH (5p15.2) / TSPAN3 (15q24.3)
ARHGEF38 (4q24) / ANKH (5p15.2)CAPN3 (15q15.1) / ANKH (5p15.2)F11 (4q35.2) / ANKH (5p15.2)
JMJD1C (10q21.3) / ANKH (5p15.2)SAT1 (Xp22.11) / ANKH (5p15.2)SLC20A2 (8p11.21) / ANKH (5p15.2)
ANKH 5p15.2 / MXD3 5q35.3SLC20A2 8p11.21 / ANKH 5p15.2

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)ANKH   15492
Cards
Entrez_Gene (NCBI)ANKH  56172  ANKH inorganic pyrophosphate transport regulator
AliasesANK; CCAL2; CMDJ; CPPDD; 
HANK; MANK
GeneCards (Weizmann)ANKH
Ensembl hg19 (Hinxton)ENSG00000154122 [Gene_View]  chr5:14704909-14871887 [Contig_View]  ANKH [Vega]
Ensembl hg38 (Hinxton)ENSG00000154122 [Gene_View]  chr5:14704909-14871887 [Contig_View]  ANKH [Vega]
ICGC DataPortalENSG00000154122
TCGA cBioPortalANKH
AceView (NCBI)ANKH
Genatlas (Paris)ANKH
WikiGenes56172
SOURCE (Princeton)ANKH
Genomic and cartography
GoldenPath hg19 (UCSC)ANKH  -     chr5:14704909-14871887 -  5p15.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ANKH  -     5p15.2   [Description]    (hg38-Dec_2013)
EnsemblANKH - 5p15.2 [CytoView hg19]  ANKH - 5p15.2 [CytoView hg38]
Mapping of homologs : NCBIANKH [Mapview hg19]  ANKH [Mapview hg38]
OMIM118600   123000   605145   
Gene and transcription
Genbank (Entrez)AB046801 AF274753 AK001799 AK054966 AK130676
RefSeq transcript (Entrez)NM_054027
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_008273 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)ANKH
Cluster EST : UnigeneHs.156727 [ NCBI ]
CGAP (NCI)Hs.156727
Alternative Splicing GalleryENSG00000154122
Gene ExpressionANKH [ NCBI-GEO ]   ANKH [ EBI - ARRAY_EXPRESS ]   ANKH [ SEEK ]   ANKH [ MEM ]
Gene Expression Viewer (FireBrowse)ANKH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56172
GTEX Portal (Tissue expression)ANKH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCJ1 (Uniprot)
NextProtQ9HCJ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCJ1
Splice isoforms : SwissVarQ9HCJ1 (Swissvar)
PhosPhoSitePlusQ9HCJ1
Domains : Interpro (EBI)ANKH   
Domain families : Pfam (Sanger)ANKH (PF07260)   
Domain families : Pfam (NCBI)pfam07260   
DMDM Disease mutations56172
Blocks (Seattle)ANKH
SuperfamilyQ9HCJ1
Human Protein AtlasENSG00000154122
Peptide AtlasQ9HCJ1
HPRD05509
IPIIPI00215869   IPI01015624   IPI00965744   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCJ1
IntAct (EBI)Q9HCJ1
FunCoupENSG00000154122
BioGRIDANKH
STRING (EMBL)ANKH
ZODIACANKH
Ontologies - Pathways
QuickGOQ9HCJ1
Ontology : AmiGOskeletal system development  inorganic phosphate transmembrane transporter activity  plasma membrane  plasma membrane  integral component of plasma membrane  locomotory behavior  phosphate ion transmembrane transporter activity  integral component of membrane  outer membrane  regulation of bone mineralization  regulation of bone mineralization  inorganic diphosphate transmembrane transporter activity  inorganic diphosphate transmembrane transporter activity  inorganic diphosphate transport  inorganic diphosphate transport  inorganic diphosphate transport  phosphate ion transmembrane transport  transmembrane transport  
Ontology : EGO-EBIskeletal system development  inorganic phosphate transmembrane transporter activity  plasma membrane  plasma membrane  integral component of plasma membrane  locomotory behavior  phosphate ion transmembrane transporter activity  integral component of membrane  outer membrane  regulation of bone mineralization  regulation of bone mineralization  inorganic diphosphate transmembrane transporter activity  inorganic diphosphate transmembrane transporter activity  inorganic diphosphate transport  inorganic diphosphate transport  inorganic diphosphate transport  phosphate ion transmembrane transport  transmembrane transport  
NDEx Network
Atlas of Cancer Signalling NetworkANKH
Wikipedia pathwaysANKH
Orthology - Evolution
OrthoDB56172
GeneTree (enSembl)ENSG00000154122
Phylogenetic Trees/Animal Genes : TreeFamANKH
Homologs : HomoloGeneANKH
Homology/Alignments : Family Browser (UCSC)ANKH
Gene fusions - Rearrangements
Fusion: TCGAANKH 5p15.2 MXD3 5q35.3 LUAD
Fusion: TCGASLC20A2 8p11.21 ANKH 5p15.2 HNSC
Polymorphisms : SNP, variants
NCBI Variation ViewerANKH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKH
dbVarANKH
ClinVarANKH
1000_GenomesANKH 
Exome Variant ServerANKH
ExAC (Exome Aggregation Consortium)ANKH (select the gene name)
Genetic variants : HAPMAP56172
Genomic Variants (DGV)ANKH [DGVbeta]
Mutations
ICGC Data PortalANKH 
TCGA Data PortalANKH 
Broad Tumor PortalANKH
OASIS PortalANKH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKH 
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)LOVD - Leiden Open Variation Database
BioMutasearch ANKH
DgiDB (Drug Gene Interaction Database)ANKH
DoCM (Curated mutations)ANKH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKH (select a term)
intoGenANKH
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:14704909-14871887  ENSG00000154122
CONAN: Copy Number AnalysisANKH 
Mutations and Diseases : HGMDANKH
OMIM118600    123000    605145   
MedgenANKH
Genetic Testing Registry ANKH
NextProtQ9HCJ1 [Medical]
TSGene56172
GENETestsANKH
Huge Navigator ANKH [HugePedia]
snp3D : Map Gene to Disease56172
BioCentury BCIQANKH
ClinGenANKH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56172
Chemical/Pharm GKB GenePA24801
Clinical trialANKH
Miscellaneous
canSAR (ICR)ANKH (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKH
EVEXANKH
GoPubMedANKH
iHOPANKH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 10:53:45 CEST 2016

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