Property Summary

NCBI Gene PubMed Count 59
Grant Count 10
R01 Count 9
Funding $2,009,543.25
PubMed Score 105.49
PubTator Score 114.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (23)

Disease log2 FC p
astrocytic glioma -1.600 0.014
ependymoma -2.700 0.000
psoriasis -1.400 0.000
cutaneous lupus erythematosus -1.100 0.002
glioblastoma -2.600 0.000
oligodendroglioma -1.200 0.000
atypical teratoid / rhabdoid tumor -3.600 0.000
medulloblastoma -1.300 0.000
medulloblastoma, large-cell -1.900 0.000
primitive neuroectodermal tumor -2.000 0.002
primary pancreatic ductal adenocarcinoma 2.083 0.001
tuberculosis and treatment for 6 months -1.500 0.004
lung cancer 1.700 0.001
ulcerative colitis -1.400 0.000
fibroadenoma 1.100 0.007
Breast cancer 4.300 0.025
cystic fibrosis -2.600 0.000
adult high grade glioma -2.400 0.000
pilocytic astrocytoma -1.200 0.006
subependymal giant cell astrocytoma -2.794 0.001
lung carcinoma 2.300 0.000
ovarian cancer 2.600 0.000
pancreatic cancer 1.700 0.005

Gene RIF (50)

PMID Text
25025693 Polymorphisms in ALP, ENPP1 and ANKH are important genetic risk factors contributing to Pseudoxanthoma elasticum
24467728 This study validates the association between a functional polymorphism in the 5' UTR of ANKH and Chondrocalcinosis
24293574 ANK was concentrated around crystal deposits and correlated with markers of chondrocyte hypertrophy. These findings support a role for ANK in CPPD crystal formation in cartilage.
23769559 expression levels of type II collagen, aggrecan, and ANK in endplate chondrocytes of experimental group were lower than that of control group and phosphorylation level of JNK in the experimental group which was higher than that in the control group
23726953 Exploratory tympanotomy might improve the hearing outcome in patients with this syndrome and therefore surgery has a limited audiometric benefit in general
23612078 The aim of this study was to investigate two mineralization-related genes TNAP and ANKH polymorphisms associated with ankylosing spondylitis (AS) in the North Chinese Han population.
23421944 Analysis of the present CMD family suggested the presence of a maternal mosaicism in an ANKH mutation, and the mother who was mosaic for the ANKH mutation had no apparent clinical or radiological features of CMD.
22647861 We report a novel mutation, not previously described, in ANKH exon 1, wherein serine replaces proline, in a case of early-onset severe calcium pyrophosphate disease associated with metabolic abnormalities, with similar findings in the proband's father
22437419 TNF-activated NF-kappaB promotes inflammation-accelerated vascular calcification by inhibiting ankylosis protein homolog expression and consequent pyrophosphate secretion.
22150416 Two novel 18 and 12 base pair in-frame deletions are the largest ANKH mutations causing craniometaphyseal dysplasia identified to date.
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AA Sequence

MVKFPALTHYWPLIRFLVPLGITNIAIDFGEQALNRGIAAVKEDAVEMLASYGLAYSLMKFFTGPMSDFK      1 - 70
NVGLVFVNSKRDRTKAVLCMVVAGAIAAVFHTLIAYSDLGYYIINKLHHVDESVGSKTRRAFLYLAAFPF     71 - 140
MDAMAWTHAGILLKHKYSFLVGCASISDVIAQVVFVAILLHSHLECREPLLIPILSLYMGALVRCTTLCL    141 - 210
GYYKNIHDIIPDRSGPELGGDATIRKMLSFWWPLALILATQRISRPIVNLFVSRDLGGSSAATEAVAILT    211 - 280
ATYPVGHMPYGWLTEIRAVYPAFDKNNPSNKLVSTSNTVTAAHIKKFTFVCMALSLTLCFVMFWTPNVSE    281 - 350
KILIDIIGVDFAFAELCVVPLRIFSFFPVPVTVRAHLTGWLMTLKKTFVLAPSSVLRIIVLIASLVVLPY    351 - 420
LGVHGATLGVGSLLAGFVGESTMVAIAACYVYRKQKKKMENESATEGEDSAMTDMPPTEEVTDIVEMREE    421 - 490
NE                                                                        491 - 492
//

Text Mined References (59)

PMID Year Title
25025693 2014 Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24467728 2014 The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study.
24293574 2014 Upregulation of ANK protein expression in joint tissue in calcium pyrophosphate dihydrate crystal deposition disease.
24204828 2013 Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
23769559 2013 JNK phosphorylation promotes degeneration of cervical endplate chondrocytes through down-regulation of the expression of ANK in humans.
23726953 2013 Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation.
23612078 2013 Association of mineralization-related genes TNAP and ANKH polymorphisms with ankylosing spondylitis in the Chinese Han population.
23421944 2013 Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia.
22647861 2012 Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia.
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