Gene Gene information from NCBI Gene database.
Entrez ID 56172
Gene name ANKH inorganic pyrophosphate transport regulator
Gene symbol ANKH
Synonyms (NCBI Gene)
ANKCCAL2CMDJCPPDDHANKMANKSLC62A1
Chromosome 5
Chromosome location 5p15.2
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605145 15492 ENSG00000154122
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  Reactome
    Miscellaneous transport and binding events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
546
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ANKH-related disorder Likely pathogenic; Pathogenic rs121908410 RCV004734498
Chondrocalcinosis 2 Pathogenic; Likely pathogenic rs121908405, rs28939080, rs121908407, rs121908409, rs121908410 RCV002247252
RCV000032998
RCV000005505
RCV000005508
RCV000005509
CHONDROCALCINOSIS 2, SPORADIC Pathogenic rs121908408 RCV000005507
Craniometaphyseal dysplasia, autosomal dominant Pathogenic; Likely pathogenic rs121908405, rs28939080, rs1579998709, rs121908406, rs267606656, rs267606658, rs267606657, rs2477420066 RCV000005501
RCV000005502
RCV000005503
RCV000005504
RCV000005510
RCV000005511
RCV000005512
RCV003389095
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs114851793, rs114529889 RCV005917868
RCV005898933
Cervical cancer Benign rs114529889 RCV005898934
Cholangiocarcinoma Benign rs153924, rs114529889 RCV005915324
RCV005898938
Chondrocalcinosis Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs577325072, rs527918862, rs531980160, rs886060201, rs886060203, rs531421951, rs765143871, rs541644826, rs182073449, rs886060081, rs886060082, rs377752827, rs34294961, rs201158874, rs555469650
View all (9 more)
RCV000350574
RCV000331602
RCV000270803
RCV000379550
RCV000373892
RCV000346435
RCV000352183
RCV000338249
RCV000397259
RCV000348637
RCV000342917
RCV000311314
RCV000390662
RCV000405624
RCV000364087
RCV000384980
RCV000307966
RCV000310258
RCV000407554
RCV000279222
RCV000403232
RCV000278653
RCV000299966
RCV000334888
RCV000335338
RCV000392917
RCV000265861
RCV000270060
RCV000264149
Associations from Text MiningDisease 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