Property Summary

NCBI Gene PubMed Count 40
PubMed Score 47.00
PubTator Score 54.34

Knowledge Summary

Patent (950)

TINX Plot

  Disease (3)

Disease Target Count
Bladder Neoplasm 109
Disease Target Count P-value
osteosarcoma 7933 3.9e-07
ovarian cancer 8491 1.5e-04
diabetes mellitus 1663 1.1e-03
Disease Target Count Z-score Confidence
Alzheimer's disease 644 4.397 2.2

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.345 3.9e-07
diabetes mellitus 1.100 1.1e-03
ovarian cancer -1.100 1.5e-04

Gene RIF (48)

PMID Text
26944452 CALHM1 polymorphism may be potential biomarker in patients with Alzheimer disease. [meta-analysis]
26416646 In the presence of antibody, P86L-CALHM1 shifts the balance between neurodegeneration and neuronal survival toward the stimulation of pro-cytotoxic pathways, thus potentially contributing to its deleterious effects in Alzheimer's disease.
25386646 The rare R154H variant interferes with CALHM1 control of cytosolic Ca2+ and Abeta accumulation.
24630757 CALHM1 p.P86L variation may not be an AD susceptibility factor in the Han Chinese population.
24326043 This study showed that No association between polymorphisms in the calcium homeostasis modulator 1 gene and mesial temporal lobe epilepsy risk in a Chinese population
24069280 rare genetic variants in CALHM1 lead to Ca(2+) dysregulation and may contribute to the risk of EOAD through a mechanism independent from the classical Ass cascade.
23884934 Our data show that CLHM-1 is a functionally conserved ion channel that plays an important but potentially toxic role in excitable cell function.
23467090 CALHM1 is a voltage-gated ATP-release channel required for sweet, bitter and umami taste perception
23345406 The study identifies a previously uncharacterized mechanism of control of Ca(2+)-dependent ERK1/2 signaling in neurons, and further establishes CALHM1 as a critical ion channel for neuronal signaling and function.
23300080 Structural and functional similarities of calcium homeostasis modulator 1 (CALHM1) ion channel with connexins, pannexins, and innexins.
22874670 A TGG haplotype defined by the rs4918016-rs2986017-rs2986018 block was associated with sporadic Creutzfeldt-Jakob disease.
21629967 Data show a significant association of CALHM1 P86L with elevated CSF Abeta42 and Abeta40 in the normal cohort at risk for Alzheimer's disease.
21574960 CALHM1 increases Ca(2+) leak from the ER and, more importantly, reduces the endoplasmic reticulum Ca(2+) uptake by decreasing both the transport capacity and the Ca(2+) affinity of SERCA.
21439911 The results of this study provide the first evidence that the SNP rs11191692 in CALHM1 confers highly increased susceptibility to temporal lobe epilepsy.
21378601 An association between the CALHM1 polymorphism and the risk for Alzheimer's disease, was not detected.
20847397 These results indicate that the CALHM1 Pro86Leu polymorphism may modulate age of onset of Alzheimer's disease by interacting with the effect of the epsilon4 allele of apolipoprotein E.
20847397 Meta-analysis of gene-disease association and gene-gene interaction. (HuGE Navigator)
20634593 Observational study of gene-disease association. (HuGE Navigator)
20592574 This study for the first time finds that the GOLPH2 modifies the ApoE[varepsilon]4-associated risk of Alzheimer's disease.
20592574 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20574532 Observational study of gene-disease association. (HuGE Navigator)
20534741 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20164602 The results of this study did not confirm an association between the CALHM1 variation and AD, thus suggesting a genetic heterogeneity among the various populations.
20164602 Observational study of gene-disease association. (HuGE Navigator)
20164592 The present study might help to highlight the CALMH1gene as an excellent candidate for AD genetic susceptibility.
20164592 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20164573 This study failed to show an association between theeight SNPs of the CALHM1 genes and alzheimer disease.
20164573 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20061624 The CALHM1-P86L polymorphism is associated with Alzheimer's disease in the ethnic Chinese Han population.
20061624 Observational study of gene-disease association. (HuGE Navigator)
20005921 we found no evidence that CALHM1 P86L is associated with altered CSF levels of the investigated Alzheimer's disease biomarkers A beta 42, tau and phospho-tau
20005921 Observational study of gene-disease association. (HuGE Navigator)
19944073 Cells carrying the P86L mutation of CALHM1 channel may have mitochondria more vulnerable to Ca2+ overload and to apoptotic stimuli.
19655363 the CALHM1 P86L common variant may not influence Alzheimer disease risk in Japanese
19655363 Observational study of gene-disease association. (HuGE Navigator)
19545933 This study demonistrated that CALHM1 allele (13.5% vs 16.7%) and genotype frequency was not significantly different between Alzheimer's disease (AD) and controls.
19545933 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19472444 CALHM1 polymorphism is not associated with late-onset Alzheimer disease.
19472444 Observational study of gene-disease association. (HuGE Navigator)
19191332 Study suggests the polymorphism does not contribute significantly to Alzheimer dementia risk in the Belgian population.
19191332 Observational study of gene-disease association. (HuGE Navigator)
19191331 No association with risk of late-onset Alzheimer disease (p=0.368 for genotypes; p=0.796 for alleles) was observed in the study, however, a potential modest association of minor allele homozygosity (TT) with an earlier age-at-onset was seen.
19191331 Observational study of gene-disease association. (HuGE Navigator)
19070563 Study assessed the potential association between Alzheimer's Disease risk and the Pro86Leu variant in the CALHM1 gene; no association was observed, either in the individual samples or in the combined analyses of more than 8100 subjects
19038093 Protein may be a genetic determinant of Alzheimer disease, since a polymorphism reduces calcium permeability.
18667147 [Review] Expression of CALHM1 is found in all brain regions and cells of neuronal lineage; it localizes predominantly to the endoplasmic reticulum but also exists at the plasma membrane, where it forms a novel calcium influx route to the cytosol.
18585350 Study determined that the CALHM1 P86L polymorphism is associated with Alzheimer's disease, further found that the P86L polymorphism increases amyloid-beta levels by interfering with CALHM1-mediated Ca(2+) permeability.
18585350 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MMDKFRMIFQFLQSNQESFMNGICGIMALASAQMYSAFDFNCPCLPGYNAAYSAGILLAPPLVLFLLGLV      1 - 70
MNNNVSMLAEEWKRPLGRRAKDPAVLRYMFCSMAQRALIAPVVWVAVTLLDGKCFLCAFCTAVPVSALGN     71 - 140
GSLAPGLPAPELARLLARVPCPEIYDGDWLLAREVAVRYLRCISQALGWSFVLLTTLLAFVVRSVRPCFT    141 - 210
QAAFLKSKYWSHYIDIERKLFDETCTEHAKAFAKVCIQQFFEAMNHDLELGHTHGTLATAPASAAAPTTP    211 - 280
DGAEEEREKLRGITDQGTMNRLLTSWHKCKPPLRLGQEEPPLMGNGWAGGGPRPPRKEVATYFSKV        281 - 346
//

Text Mined References (41)

PMID Year Title
26944452 2016 Calcium homeostasis modulator 1 gene P86L polymorphism and the risk for alzheimer's disease: A meta-analysis.
26416646 2015 CALHM1 and its polymorphism P86L differentially control Ca²?homeostasis, mitogen-activated protein kinase signaling, and cell vulnerability upon exposure to amyloid ?.
25386646 2014 Effect of the CALHM1 G330D and R154H human variants on the control of cytosolic Ca2+ and A? levels.
24630757 2014 Lack of association between CALHM1 p.P86L variation and Alzheimer's disease in the Han Chinese population.
24326043 2014 No association between polymorphisms in the calcium homeostasis modulator 1 gene and mesial temporal lobe epilepsy risk in a Chinese population.
24069280 2013 Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
23884934 2013 CLHM-1 is a functionally conserved and conditionally toxic Ca2+-permeable ion channel in Caenorhabditis elegans.
23467090 2013 CALHM1 ion channel mediates purinergic neurotransmission of sweet, bitter and umami tastes.
23345406 2013 CALHM1 controls the Ca²?-dependent MEK, ERK, RSK and MSK signaling cascade in neurons.
23300080 2013 Structural and functional similarities of calcium homeostasis modulator 1 (CALHM1) ion channel with connexins, pannexins, and innexins.
22874670 Genetic variability of the gene cluster CALHM 1-3 in sporadic Creutzfeldt-Jakob disease.
22711817 2012 Calcium homeostasis modulator 1 (CALHM1) is the pore-forming subunit of an ion channel that mediates extracellular Ca2+ regulation of neuronal excitability.
21629967 CALHM1 P86L polymorphism modulates CSF A? levels in cognitively healthy individuals at risk for Alzheimer's disease.
21574960 2011 Calcium homoeostasis modulator 1 (CALHM1) reduces the calcium content of the endoplasmic reticulum (ER) and triggers ER stress.
21439911 2011 A polymorphism in CALHM1 is associated with temporal lobe epilepsy.
21378601 2011 No association between CALHM1 polymorphism and Alzheimer's disease risk in a Hungarian population.
20847397 2010 The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.
20634593 2010 Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels.
20592574 2010 Association between the polymorphisms of CALHM1 and GOLPH2 genes and Alzheimer's disease.
20574532 2010 Intermediate phenotypes identify divergent pathways to Alzheimer's disease.
20534741 2010 Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.
20164602 2010 Lack of implication for CALHM1 P86L common variation in Italian patients with early and late onset Alzheimer's disease.
20164592 2010 CALHM1 P86L polymorphism is associated with late-onset Alzheimer's disease in a recessive model.
20164573 2010 Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population.
20061624 2010 CALHM1 P86L polymorphism is a risk factor for Alzheimer's disease in the Chinese population.
20005921 2010 CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid.
19997627 2009 Expression of genes encoding multi-transmembrane proteins in specific primate taste cell populations.
19944073 2010 Mitochondria sense with different kinetics the calcium entering into HeLa cells through calcium channels CALHM1 and mutated P86L-CALHM1.
19655363 2010 The P86L common allele of CALHM1 does not influence risk for Alzheimer disease in Japanese cohorts.
19545933 2011 CALHM1 variant is not associated with Alzheimer's disease among Asians.
19472444 2009 CALHM1 polymorphism is not associated with late-onset Alzheimer disease.
19191332 2009 No association between CALHM1 and risk for Alzheimer dementia in a Belgian population.
19191331 2009 No association between CALHM1 variation and risk of Alzheimer disease.
19070563 2008 No association between CALHM1 and Alzheimer's disease risk.
19038093 2008 [CALHM1, a novel gene to blame in Alzheimer disease].
18667147 2008 Linking calcium to Abeta and Alzheimer's disease.
18585350 2008 A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.