Identity
HGNC
LOCATION
5p15.2
LOCUSID
ALIAS
ANK,CCAL2,CMDJ,CPPDD,HANK,MANK,SLC62A1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 56172
MIM: 605145
HGNC: 15492
Ensembl: ENSG00000154122
Variants:
dbSNP: 56172
ClinVar: 56172
TCGA: ENSG00000154122
COSMIC: ANKH
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000154122 | ENST00000284268 | Q9HCJ1 |
| ENSG00000154122 | ENST00000505140 | D6RGI5 |
| ENSG00000154122 | ENST00000646501 | A0A2R8Y5E7 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Miscellaneous transport and binding events | REACTOME | R-HSA-5223345 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35147247 | 2022 | The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate. | 21 |
| 35147247 | 2022 | The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate. | 21 |
| 33859255 | 2021 | Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1. | 5 |
| 34737423 | 2021 | m(6)A-mediated upregulation of AC008 promotes osteoarthritis progression through the miR-328-3p‒AQP1/ANKH axis. | 28 |
| 33859255 | 2021 | Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1. | 5 |
| 34737423 | 2021 | m(6)A-mediated upregulation of AC008 promotes osteoarthritis progression through the miR-328-3p‒AQP1/ANKH axis. | 28 |
| 32366894 | 2020 | Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia. | 3 |
| 32366894 | 2020 | Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia. | 3 |
| 31356809 | 2019 | Wnt1 inhibits vascular smooth muscle cell calcification by promoting ANKH expression. | 10 |
| 31356809 | 2019 | Wnt1 inhibits vascular smooth muscle cell calcification by promoting ANKH expression. | 10 |
| 30356088 | 2018 | Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia. | 6 |
| 30356088 | 2018 | Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia. | 6 |
| 29056330 | 2017 | Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts. | 9 |
| 29056330 | 2017 | Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts. | 9 |
| 27142968 | 2016 | Matrix stiffness promotes cartilage endplate chondrocyte calcification in disc degeneration via miR-20a targeting ANKH expression. | 21 |
Citation
Dessen P
ANKH (ANKH inorganic pyrophosphate transport regulator)
Atlas Genet Cytogenet Oncol Haematol. 2003-08-01
Online version: http://atlasgeneticsoncology.org/gene/643/ankh
