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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ANKH-related disorder Likely pathogenic; Pathogenic rs121908410 RCV004734498
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chondrocalcinosis 2 Pathogenic; Likely pathogenic rs121908405, rs28939080, rs121908407, rs121908409, rs121908410 RCV002247252
RCV000032998
RCV000005505
RCV000005508
RCV000005509
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHONDROCALCINOSIS 2, SPORADIC Pathogenic rs121908408 RCV000005507
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniometaphyseal dysplasia, autosomal dominant Pathogenic; Likely pathogenic rs121908405, rs28939080, rs1579998709, rs121908406, rs267606656, rs267606658, rs267606657, rs2477420066 RCV000005501
RCV000005502
RCV000005503
RCV000005504
RCV000005510
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCIUM PYROPHOSPHATE DEPOSITION DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 40542379 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 10813297, 12632434, 14558096, 15899038, 18299954, 22089454, 23612078
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis LHGDN 12632434
★☆☆☆☆
Found in Text Mining only
Ankylosis Ankylosis Pubtator 12297987, 15899038, 20943778 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 10894769, 17186460, 17278928
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 15023384
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 30262549
★☆☆☆☆
Found in Text Mining only
Bloom Syndrome Bloom Syndrome BEFREE 23936839
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 17186460
★☆☆☆☆
Found in Text Mining only