ANKH (ANKH inorganic pyrophosphate transport regulator)

2003-08-01  

Identity

HGNC
ANKH
LOCATION
5p15.2
LOCUSID
56172
ALIAS
ANK,CCAL2,CMDJ,CPPDD,HANK,MANK,SLC62A1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56172
MIM: 605145
HGNC: 15492
Ensembl: ENSG00000154122

Variants:

dbSNP: 56172
ClinVar: 56172
TCGA: ENSG00000154122
COSMIC: ANKH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154122ENST00000284268Q9HCJ1
ENSG00000154122ENST00000505140D6RGI5
ENSG00000154122ENST00000646501A0A2R8Y5E7

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Miscellaneous transport and binding eventsREACTOMER-HSA-5223345

References

Pubmed IDYearTitleCitations
351472472022The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.21
351472472022The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.21
338592552021Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1.5
347374232021m(6)A-mediated upregulation of AC008 promotes osteoarthritis progression through the miR-328-3p‒AQP1/ANKH axis.28
338592552021Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1.5
347374232021m(6)A-mediated upregulation of AC008 promotes osteoarthritis progression through the miR-328-3p‒AQP1/ANKH axis.28
323668942020Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.3
323668942020Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.3
313568092019Wnt1 inhibits vascular smooth muscle cell calcification by promoting ANKH expression.10
313568092019Wnt1 inhibits vascular smooth muscle cell calcification by promoting ANKH expression.10
303560882018Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia.6
303560882018Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia.6
290563302017Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.9
290563302017Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.9
271429682016Matrix 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