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ANKH (ANKH inorganic pyrophosphate transport regulator)

Identity

Other namesANK
CCAL2
CMDJ
CPPDD
HANK
MANK
HGNC (Hugo) ANKH
LocusID (NCBI) 56172
Location 5p15.2
Location_base_pair Starts at 14704909 and ends at 14871887 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)ANKH
Ensembl (Hinxton)ENSG00000154122 [Gene_View]  chr5:14704909-14871887 [Contig_View]  ANKH [Vega]
AceView (NCBI)ANKH
Genatlas (Paris)ANKH
WikiGenes56172
SOURCE (Princeton)NM_054027
Genomic and cartography
GoldenPath (UCSC)ANKH  -  5p15.2   chr5:14704909-14871887 -  5p15.2   [Description]    (hg19-Feb_2009)
EnsemblANKH - 5p15.2 [CytoView]
Mapping of homologs : NCBIANKH [Mapview]
OMIM118600   123000   605145   
Gene and transcription
Genbank (Entrez)AB046801 AF274753 AK001799 AK054966 AK130676
RefSeq transcript (Entrez)NM_054027
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_008273 NT_006576 NW_001838927 NW_004929321
Consensus coding sequences : CCDS (NCBI)ANKH
Cluster EST : UnigeneHs.156727 [ NCBI ]
CGAP (NCI)Hs.156727
Alternative Splicing : Fast-db (Paris)GSHG0024672
Alternative Splicing GalleryENSG00000154122
Gene ExpressionANKH [ NCBI-GEO ]     ANKH [ SEEK ]   ANKH [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCJ1 (Uniprot)
NextProtQ9HCJ1  [Medical]
With graphics : InterProQ9HCJ1
Splice isoforms : SwissVarQ9HCJ1 (Swissvar)
Domains : Interpro (EBI)ANKH   
Related proteins : CluSTrQ9HCJ1
Domain families : Pfam (Sanger)ANKH (PF07260)   
Domain families : Pfam (NCBI)pfam07260   
DMDM Disease mutations56172
Blocks (Seattle)Q9HCJ1
Human Protein AtlasENSG00000154122
Peptide AtlasQ9HCJ1
HPRD05509
IPIIPI00215869   IPI01015624   IPI00965744   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCJ1
IntAct (EBI)Q9HCJ1
FunCoupENSG00000154122
BioGRIDANKH
InParanoidQ9HCJ1
Interologous Interaction database Q9HCJ1
IntegromeDBANKH
STRING (EMBL)ANKH
Ontologies - Pathways
Ontology : AmiGOskeletal system development  inorganic phosphate transmembrane transporter activity  plasma membrane  integral to plasma membrane  locomotory behavior  phosphate ion transmembrane transporter activity  integral to membrane  outer membrane  regulation of bone mineralization  regulation of bone mineralization  inorganic diphosphate transmembrane transporter activity  
Ontology : EGO-EBIskeletal system development  inorganic phosphate transmembrane transporter activity  plasma membrane  integral to plasma membrane  locomotory behavior  phosphate ion transmembrane transporter activity  integral to membrane  outer membrane  regulation of bone mineralization  regulation of bone mineralization  inorganic diphosphate transmembrane transporter activity  
REACTOMEANKH
Protein Interaction DatabaseANKH
Wikipedia pathwaysANKH
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ANKH
SNP (GeneSNP Utah)ANKH
SNP : HGBaseANKH
Genetic variants : HAPMAPANKH
1000_GenomesANKH 
ICGC programENSG00000154122 
Somatic Mutations in Cancer : COSMICANKH 
CONAN: Copy Number AnalysisANKH 
Mutations and Diseases : HGMDANKH
OMIM118600    123000    605145   
GENETestsANKH
Disease Genetic AssociationANKH
Huge Navigator ANKH [HugePedia]  ANKH [HugeCancerGEM]
Genomic VariantsANKH  ANKH [DGVbeta]
Exome VariantANKH
dbVarANKH
ClinVarANKH
snp3D : Map Gene to Disease56172
General knowledge
Homologs : HomoloGeneANKH
Homology/Alignments : Family Browser (UCSC)ANKH
Phylogenetic Trees/Animal Genes : TreeFamANKH
Chemical/Protein Interactions : CTD56172
Chemical/Pharm GKB GenePA24801
Clinical trialANKH
Cancer Resource (Charite)ENSG00000154122
Other databases
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
CoreMineANKH
iHOPANKH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 17:13:36 CEST 2014

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