Property Summary

NCBI Gene PubMed Count 59
PubMed Score 105.49
PubTator Score 114.03

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
lung carcinoma 2844 2.14322263788272E-34
ependymoma 2514 1.29713664955177E-12
atypical teratoid / rhabdoid tumor 4369 6.29139505445451E-11
oligodendroglioma 2849 1.00912703092257E-10
psoriasis 6685 1.23128349134072E-9
ulcerative colitis 2087 1.36183707452689E-6
cystic fibrosis 1670 2.2534807437655E-6
adult high grade glioma 2148 4.65082677153133E-5
ovarian cancer 8492 1.7280747150131E-4
medulloblastoma 1524 1.75800424895411E-4
medulloblastoma, large-cell 6234 2.09211954277828E-4
glioblastoma 5572 3.57017804558097E-4
primary pancreatic ductal adenocarcinoma 1271 5.46664845591192E-4
subependymal giant cell astrocytoma 2287 9.64270084714121E-4
lung cancer 4473 0.00109789217359344
cutaneous lupus erythematosus 1056 0.00164660910750835
primitive neuroectodermal tumor 3031 0.00202831411130499
tuberculosis and treatment for 6 months 686 0.00391610092586153
pancreatic cancer 2300 0.00480530664239622
pilocytic astrocytoma 3086 0.00609832433515681
fibroadenoma 557 0.00715568948458247
astrocytic glioma 2241 0.0136263011278205
Breast cancer 3099 0.0248609387717636

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

Synonym

Accession Q9HCJ1 B2RCA7 B3KMG4 D3DTD4 Q9NQW2 ANK
Symbols ANK
CMDJ
HANK
MANK
CCAL2
CPPDD

Gene

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

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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