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ANKH (ANKH inorganic pyrophosphate transport regulator)

Identity

Alias (NCBI)ANK
CCAL2
CMDJ
CPPDD
HANK
MANK
SLC62A1
HGNC (Hugo) ANKH
HGNC Alias symbHANK
ANK
CPPDD
SLC62A1
HGNC Previous nameCCAL2
 CMDJ
HGNC Previous nameankylosis, progressive (mouse) homolog
 craniometaphyseal dysplasia, Jackson type (dominant)
 ankylosis, progressive homolog (mouse)
LocusID (NCBI) 56172
Atlas_Id 643
Location 5p15.2  [Link to chromosome band 5p15]
Location_base_pair Starts at 14704800 and ends at 14871778 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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
LRG (Locus Reference Genomic)LRG_1362
Cards
Entrez_Gene (NCBI)ANKH    ANKH inorganic pyrophosphate transport regulator
AliasesANK; CCAL2; CMDJ; CPPDD; 
HANK; MANK; SLC62A1
GeneCards (Weizmann)ANKH
Ensembl hg19 (Hinxton)ENSG00000154122 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154122 [Gene_View]  ENSG00000154122 [Sequence]  chr5:14704800-14871778 [Contig_View]  ANKH [Vega]
ICGC DataPortalENSG00000154122
TCGA cBioPortalANKH
AceView (NCBI)ANKH
Genatlas (Paris)ANKH
SOURCE (Princeton)ANKH
Genetics Home Reference (NIH)ANKH
Genomic and cartography
GoldenPath hg38 (UCSC)ANKH  -     chr5:14704800-14871778 -  5p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKH  -     5p15.2   [Description]    (hg19-Feb_2009)
GoldenPathANKH - 5p15.2 [CytoView hg19]  ANKH - 5p15.2 [CytoView hg38]
ImmunoBaseENSG00000154122
Genome Data Viewer NCBIANKH [Mapview hg19]  
OMIM118600   123000   605145   
Gene and transcription
Genbank (Entrez)AB046801 AF274753 AK001799 AK054966 AK130676
RefSeq transcript (Entrez)NM_054027
Consensus coding sequences : CCDS (NCBI)ANKH
Gene ExpressionANKH [ NCBI-GEO ]   ANKH [ EBI - ARRAY_EXPRESS ]   ANKH [ SEEK ]   ANKH [ MEM ]
Gene Expression Viewer (FireBrowse)ANKH [ Firebrowse - Broad ]
GenevisibleExpression of ANKH in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56172
GTEX Portal (Tissue expression)ANKH
Human Protein AtlasENSG00000154122-ANKH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCJ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HCJ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCJ1
PhosPhoSitePlusQ9HCJ1
Domains : Interpro (EBI)ANKH   
Domain families : Pfam (Sanger)ANKH (PF07260)   
Domain families : Pfam (NCBI)pfam07260   
Conserved Domain (NCBI)ANKH
SuperfamilyQ9HCJ1
AlphaFold pdb e-kbQ9HCJ1   
Human Protein Atlas [tissue]ENSG00000154122-ANKH [tissue]
HPRD05509
Protein Interaction databases
DIP (DOE-UCLA)Q9HCJ1
IntAct (EBI)Q9HCJ1
BioGRIDANKH
STRING (EMBL)ANKH
ZODIACANKH
Ontologies - Pathways
QuickGOQ9HCJ1
Ontology : AmiGOskeletal system development  inorganic phosphate transmembrane transporter activity  inorganic phosphate transmembrane transporter activity  plasma membrane  plasma membrane  integral component of 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 transmembrane transporter activity  inorganic diphosphate transport  phosphate ion transmembrane transport  transmembrane transport  
Ontology : EGO-EBIskeletal system development  inorganic phosphate transmembrane transporter activity  inorganic phosphate transmembrane transporter activity  plasma membrane  plasma membrane  integral component of 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 transmembrane transporter activity  inorganic diphosphate transport  phosphate ion transmembrane transport  transmembrane transport  
NDEx NetworkANKH
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 : MitelmanANKH::ARHGEF38 [5p15.2/4q24]  
Fusion : MitelmanANKH::MXD3 [5p15.2/5q35.3]  
Fusion : MitelmanANKH::TENM2 [5p15.2/5q34]  
Fusion : MitelmanARHGEF38::ANKH [4q24/5p15.2]  
Fusion : MitelmanSLC20A2::ANKH [8p11.21/5p15.2]  
Fusion : QuiverANKH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKH
dbVarANKH
ClinVarANKH
MonarchANKH
1000_GenomesANKH 
Exome Variant ServerANKH
GNOMAD BrowserENSG00000154122
Varsome BrowserANKH
ACMGANKH variants
VarityQ9HCJ1
Genomic Variants (DGV)ANKH [DGVbeta]
DECIPHERANKH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKH 
Mutations
ICGC Data PortalANKH 
TCGA Data PortalANKH 
Broad Tumor PortalANKH
OASIS PortalANKH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKH  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DANKH
Mutations and Diseases : HGMDANKH
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaANKH
DgiDB (Drug Gene Interaction Database)ANKH
DoCM (Curated mutations)ANKH
CIViC (Clinical Interpretations of Variants in Cancer)ANKH
Cancer3DANKH
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118600    123000    605145   
Orphanet1614    1689   
DisGeNETANKH
MedgenANKH
Genetic Testing Registry ANKH
NextProtQ9HCJ1 [Medical]
GENETestsANKH
Target ValidationANKH
Huge Navigator ANKH [HugePedia]
ClinGenANKH
Clinical trials, drugs, therapy
MyCancerGenomeANKH
Protein Interactions : CTDANKH
Pharm GKB GenePA24801
PharosQ9HCJ1
Clinical trialANKH
Miscellaneous
canSAR (ICR)ANKH
HarmonizomeANKH
ARCHS4ANKH
DataMed IndexANKH
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXANKH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:22:24 CET 2022

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