ANKH (ANKH inorganic pyrophosphate transport regulator)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56172
Gene name Gene Name - the full gene name approved by the HGNC.
ANKH inorganic pyrophosphate transport regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANKH
Synonyms (NCBI Gene) Gene synonyms aliases
ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, SLC62A1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p15.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanis
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs121908407 A>G Pathogenic Coding sequence variant, missense variant
rs121908409 G>A Pathogenic Coding sequence variant, genic upstream transcript variant, missense variant
rs121908410 G>T Pathogenic Coding sequence variant, genic upstream transcript variant, missense variant
rs267606657 A>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(681)
miRTarBase ID miRNA Experiments Reference
MIRT017494 hsa-miR-335-5p Microarray 18185580
MIRT049783 hsa-miR-92a-3p CLASH 23622248
MIRT095720 hsa-miR-93-5p PAR-CLIP 20371350
MIRT095728 hsa-miR-526b-3p PAR-CLIP 20371350
MIRT095730 hsa-miR-519d-3p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(35)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development NAS 10894769
GO:0005315 Function Phosphate transmembrane transporter activity IBA
GO:0005315 Function Phosphate transmembrane transporter activity IDA 11326272
GO:0005315 Function Phosphate transmembrane transporter activity IEA
GO:0005347 Function ATP transmembrane transporter activity IDA 32639996, 35147247
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605145 15492 ENSG00000154122
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9HCJ1
Protein name Mineralization regulator ANKH (ATP carrier protein ANKH) (Progressive ankylosis protein homolog) (ANK)
Protein function Transports adenosine triphosphate (ATP) and possibly other nucleoside triphosphates (NTPs) from cytosol to the extracellular space. Mainly regulates their levels locally in peripheral tissues while playing a minor systemic role. Prevents abnorma
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07260 ANKH 1 → 345 Progressive ankylosis protein (ANKH) Family
Tissue specificity TISSUE SPECIFICITY: Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells.
Sequence
Sequence length 492
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Miscellaneous transport and binding events
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Chondrocalcinosis Chondrocalcinosis 2, Chondrocalcinosis 2, sporadic rs121908410, rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409 N/A
Craniometaphyseal Dysplasia craniometaphyseal dysplasia, autosomal dominant rs121908405, rs267606656, rs267606658, rs28939080, rs267606657, rs1579998709, rs121908406 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Diabetes, Type 2 diabetes, Type 2 diabetes (time to event), Type 2 diabetes (adjusted for BMI), Type 2 diabetes (PheCode 250.2), Type 2 diabetes with neurological manifestations (PheCode 250.24) N/A N/A GWAS
Glaucoma Glaucoma N/A N/A GWAS
Mental retardation intellectual disability N/A N/A ClinVar
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (32)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adamantinoma Associate 29444796
Alzheimer Disease Associate 40542379
Ankylosis Associate 12297987, 20943778
Bone Resorption Associate 29056330
Calcinosis Associate 27142968
Cartilage Diseases Associate 27142968, 34737423
Chondrocalcinosis Associate 12297987, 12297989, 14558096, 15461680, 15818664, 20943778, 22647861, 24467728, 29578045, 32366894
Chondrocalcinosis 2 Associate 12297989, 13130483
Congenital Abnormalities Associate 36849876
Craniometaphyseal Dysplasia Autosomal Dominant Associate 14558096, 24219578