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Gene Report
Basic Info
| Approved Symbol | LAMA2 |
|---|---|
| Previous Symbol | LAMM |
| Approved Name | laminin, alpha 2 |
| Name Alias | merosin, "congenital muscular dystrophy" |
| Location | 6q22-q23 |
| Position | chr6:129204286-129837714, + |
| External Links |
HGNC: 6482 Entrez Gene: 3908 Ensembl: ENSG00000196569 UCSC: uc003qbn.2 |
| No. of Studies | 0 (significant: 0; non-significant: 0; trend: 0) |
| Source | Mapped by CNV; Mapped by significant region |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 1)
| ID | Location | Size | Band | Type | Inheritance |
|---|---|---|---|---|---|
| CNV_Williams[2010]_49 | chr6:128863230-130509862 (NCBI Build 36.1 (hg18)) | 1646633 | 6q22.33-6q23.1 | Gain |
Gene related other variant (count: 0)
Gene related regions (count: 1)
| Region Name | Position | No. of Studies (significant/non-significant/trend)  |
|---|---|---|
| 6q22-23 | chr6:114600000-139000000 | 1 (1/0/0) |
Gene related GO terms (count: 14)
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 14)
| ID | Name | Type | Evidence[PMID] | No. of Genes in ADHDgene |
|---|---|---|---|---|
| GO:0005576 | extracellular region | Cellular Component | 240 | |
| GO:0005604 | basement membrane | Cellular Component | IDA[14557481] | 14 |
| GO:0005102 | receptor binding | Molecular Function | 61 | |
| GO:0042383 | sarcolemma | Cellular Component | 11 | |
| GO:0045995 | regulation of embryonic development | Biological Process | 3 | |
| GO:0005198 | structural molecule activity | Molecular Function | TAS[2185464] | 29 |
| GO:0007411 | axon guidance | Biological Process | 65 | |
| GO:0031012 | extracellular matrix | Cellular Component | 28 | |
| GO:0007517 | muscle organ development | Biological Process | TAS[7550355] | 16 |
| GO:0032224 | positive regulation of synaptic transmission, cholinergic | Biological Process | 1 | |
| GO:0005606 | laminin-1 complex | Cellular Component | 3 | |
| GO:0030155 | regulation of cell adhesion | Biological Process | 8 | |
| GO:0007155 | cell adhesion | Biological Process | 86 | |
| GO:0030334 | regulation of cell migration | Biological Process | 10 |
Gene related KEGG pathways (count: 10)
| ID | Name | No. of Genes in ADHDgene | Brief Description |
|---|---|---|---|
| hsa05416 | Viral myocarditis | 7 | Myocarditis is a cardiac disease associated with inflammatio...... Myocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is still considered the dominant etiological agent. Myocarditis may be caused by direct cytopathic effects of virus, a pathologic immune response to persistent virus, or autoimmunity triggered by the viral infection. The virus enters the myocyte through internalization of the coxsackie-adenoviral receptor (CAR) and its coreceptor, decay-accelerating factor (DAF). Viral proteases cleave various proteins in the host cell. One example is viral protease 2A, which cleaves eukaryote initiation factor 4G (eIF4G) and the dystrophin protein, resulting in a complete shutdown of cap-dependent RNA translation and cytoskeletal destruction in infected cardiomyocytes, respectively. CVB3 also cleaves the member of the Bcl-2 family Bid, leading to apoptosis. CVB3 infection also induces the cleavage of cyclin D protein through a proteasome-dependent pathway, leading to the host cell-growth arrest. Viral infection and necrosis of myocytes may lead to the release of intracellular antigens, resulting in activation of self-reactive T cells. CVB infection is a significant cause of dilated cardiomyopathy (DCM) as well as myocarditis. Epidemiologically, myocarditis underlies a significant portion of patients with DCM. More... |
| hsa05414 | Dilated cardiomyopathy | 23 | Dilated cardiomyopathy (DCM) is a heart muscle disease chara...... Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure. More... |
| hsa05410 | Hypertrophic cardiomyopathy (HCM) | 25 | Hypertrophic cardiomyopathy (HCM) is a primary myocardial di...... Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myfibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in 11 genes that encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2+ sensitivity of cardiac myofilaments. Increased myofilament Ca2+ sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. The increase in the myfilament Ca2+ sensitivity well account for the diastolic dysfunction of model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction. More... |
| hsa04512 | ECM-receptor interaction | 13 | The extracellular matrix (ECM) consists of a complex mixture...... The extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell and tissue structure and function. Specific interactions between cells and the ECM are mediated by transmembrane molecules, mainly integrins and perhaps also proteoglycans, CD36, or other cell-surface-associated components. These interactions lead to a direct or indirect control of cellular activities such as adhesion, migration, differentiation, proliferation, and apoptosis. In addition, integrins function as mechanoreceptors and provide a force-transmitting physical link between the ECM and the cytoskeleton. Integrins are a family of glycosylated, heterodimeric transmembrane adhesion receptors that consist of noncovalently bound alpha- and beta-subunits. More... |
| hsa04510 | Focal adhesion | 40 | Cell-matrix adhesions play essential roles in important biol...... Cell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the cell-extracellular matrix contact points, specialized structures are formed and termed focal adhesions, where bundles of actin filaments are anchored to transmembrane receptors of the integrin family through a multi-molecular complex of junctional plaque proteins. Some of the constituents of focal adhesions participate in the structural link between membrane receptors and the actin cytoskeleton, while others are signalling molecules, including different protein kinases and phosphatases, their substrates, and various adapter proteins. Integrin signaling is dependent upon the non-receptor tyrosine kinase activities of the FAK and src proteins as well as the adaptor protein functions of FAK, src and Shc to initiate downstream signaling events. These signalling events culminate in reorganization of the actin cytoskeleton; a prerequisite for changes in cell shape and motility, and gene expression. Similar morphological alterations and modulation of gene expression are initiated by the binding of growth factors to their respective receptors, emphasizing the considerable crosstalk between adhesion- and growth factor-mediated signalling. More... |
| hsa05222 | Small cell lung cancer | 16 | Lung cancer is a leading cause of cancer death among men and...... Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% of all lung cancer cases. Molecular mechanisms altered in SCLC include induced expression of oncogene, MYC, and loss of tumorsuppressor genes, such as p53, PTEN, RB, and FHIT. The overexpression of MYC proteins in SCLC is largely a result of gene amplification. Such overexpression leads to more rapid proliferation and loss of terminal differentiation. Mutation or deletion of p53 or PTEN can lead to more rapid proliferation and reduced apoptosis. The retinoblastoma gene RB1 encodes a nuclear phosphoprotein that helps to regulate cell-cycle progression. The fragile histidine triad gene FHIT encodes the enzyme diadenosine triphosphate hydrolase, which is thought to have an indirect role in proapoptosis and cell-cycle control. More... |
| hsa05145 | Toxoplasmosis | 33 | Toxoplasma gondii is an obligate intracellular parasite that...... Toxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechanisms. During early infection, nuclear translocation of NFkB is temporally blocked and p38 MAPK phosphorylation is prevented, suppressing IL-12 production. Another pathway for IL-12 induction occurs through CCR5 dependent pathway, but parasitic induction of an eicosanoid LXA4 contributes to the downregulation of IL-12. Direct activation of STAT3 by the parasite enhance anti-inflammatory function of IL-10 and TGF beta. T. gondii can cause lifelong chronic infection by establishing an anti-apoptotic environment through induction of bcl-2 or IAPs and by redirecting LDL-mediated cholesterol transport to scavenge nutrients from the host. More... |
| hsa05146 | Amoebiasis | 19 | Entamoeba histolytica, an extracellular protozoan parasite i...... Entamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis of amoebiasis begins with parasite attachment and disruption of the intestinal mucus layer, followed by apoptosis of host epithelial cells. Intestinal tissue destruction causes severe dysentery and ulcerations in amoebic colitis. Several amoebic proteins such as lectins, cysteine proteineases, and amoebapores are associated with the invasion process. The parasite can cause extraintestinal infection like amoebic liver abscess by evading immune response. More... |
| hsa05412 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | 27 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an...... Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive myocyte loss and fibrofatty replacement, with a predilection for the right ventricle. A number of genetic studies have identified mutations in various components of the cardiac desmosome that have important roles in the pathogenesis of ARVC. Disruption of desmosomal function by defective proteins might lead to death of myocytes under mechanical stress. The myocardial injury may be accompanied by inflammation. Since regeneration of cardiac myocytes is limited, repair by fibrofatty replacement occurs. Several studies have implicated that desmosome dysfunction results in the delocalization and nuclear translocation of plakoglobin. As a result, competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate towards an adipocyte fate of cells. The ryanodine receptor plays a crucial part in electromechanical coupling by control of release of calcium from the sarcoplasmic reticulum into the cytosol. Therefore, defects in this receptor could result in an imbalance of calcium homeostasis that might trigger cell death. More... |
| hsa05200 | Pathways in cancer | 52 |
Genes shared at least 5 GO terms with LAMA2 (count: 3)
Genes shared at least 2 KEGG pathways with LAMA2 (count: 52)
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Region: chr6:129204286..129837714 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014