Property Summary

NCBI Gene PubMed Count 19
Grant Count 1
Funding $378,652.38
PubMed Score 17.13
PubTator Score 12.89

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
osteosarcoma -3.650 0.000
ependymoma -1.300 0.006
glioblastoma -2.100 0.000
sonic hedgehog group medulloblastoma -2.400 0.000
atypical teratoid/rhabdoid tumor -1.600 0.003
medulloblastoma, large-cell -2.000 0.000
primitive neuroectodermal tumor -1.600 0.039
tuberculosis 2.900 0.000
pediatric high grade glioma -2.000 0.000
pilocytic astrocytoma -2.200 0.000
subependymal giant cell astrocytoma -1.460 0.002
pituitary cancer -1.300 0.003

Synonym

Accession Q8NFF2 B4DHE7 B9ZVY2 Q8N8U6 Q8NCX1 Q8NFF0 Q8NFF1
Symbols AI2A5
NCKX4
SHEP6
SLC24A2

Gene

PANTHER Protein Class (1)

 Grant Application (1)

Gene RIF (14)

PMID Text
27129268 mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human amylogenesis imperfecta and non-syndromic oculocutaneous albinism patients.
25500693 The expressions of NCX1 and NCKX4 were significantly higher in the patent ductus arteriosus group at both the protein and mRNA levels.
25365775 Brain DNA methylation in sLC24A4 was associated with pathological Alzheimer disease.
24621671 enamel maturation is dependent upon STIM1 and SLC24A4 function, and that there are important differences in the Ca(2+) transcellular transport systems used by secretory- and maturation-stage ameloblasts.
23375655 These findings support a key role for SLC24A4 in calcium transport during enamel formation.
21126331 Taken together, these data demonstrate a potentially important role for NCX1 in control of Ca2+ homeostasis and link store depletion via STIM1 directly with NCX activation.
20585627 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19710684 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19609347 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
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AA Sequence

MALRGTLRPLKVRRRREMLPQQVGFVCAVLALVCCASGLFGSLGHKTASASKRVLPDTWRNRKLMAPVNG      1 - 70
TQTAKNCTDPAIHEFPTDLFSNKERQHGAVLLHILGALYMFYALAIVCDDFFVPSLEKICERLHLSEDVA     71 - 140
GATFMAAGSSTPELFASVIGVFITHGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVRLTWWAVCRDSVYY    141 - 210
TISVIVLIVFIYDEQIVWWEGLVLIILYVFYILIMKYNVKMQAFFTVKQKSIANGNPVNSELEAGNDFYD    211 - 280
GSYDDPSVPLLGQVKEKPQYGKNPVVMVDEIMSSSPPKFTFPEAGLRIMITNKFGPRTRLRMASRIIINE    281 - 350
RQRLINSANGVSSKPLQNGRHENIENGNVPVENPEDPQQNQEQQPPPQPPPPEPEPVEADFLSPFSVPEA    351 - 420
RGDKVKWVFTWPLIFLLCVTIPNCSKPRWEKFFMVTFITATLWIAVFSYIMVWLVTIIGYTLGIPDVIMG    421 - 490
ITFLAAGTSVPDCMASLIVARQGLGDMAVSNTIGSNVFDILVGLGVPWGLQTMVVNYGSTVKINSRGLVY    491 - 560
SVVLLLGSVALTVLGIHLNKWRLDRKLGVYVLVLYAIFLCFSIMIEFNVFTFVNLPMCREDD            561 - 622
//

Text Mined References (21)

PMID Year Title
27129268 2016 A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.
25500693 2015 Elevated NCX1 and NCKX4 expression in the patent postnatal ductus arteriosus of ductal-dependent congenital heart disease patients.
25365775 2015 Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease.
24621671 2014 STIM1 and SLC24A4 Are Critical for Enamel Maturation.
24162737 2013 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
23375655 2013 Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
21546767 2011 Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
21126331 2010 Reverse mode Na+/Ca2+ exchange mediated by STIM1 contributes to Ca2+ influx in airway smooth muscle following agonist stimulation.
20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
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