MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
Gene ID: 161357, updated on 17-Jun-2024Gene type: protein coding
Also known as: MAMDC1; c14_5286
- See all available tests in GTR for this gene
- Go to complete Gene record for MDGA2
- Go to Variation Viewer for MDGA2 variants
Summary
Predicted to be involved in regulation of presynapse assembly; regulation of synaptic membrane adhesion; and spinal cord motor neuron differentiation. Predicted to act upstream of or within neuron migration and pattern specification process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse and glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. GeneReviews: Not available | |
| Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. GeneReviews: Not available | |
| Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. GeneReviews: Not available | |
| Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression. GeneReviews: Not available | |
| Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism. GeneReviews: Not available | |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 14q21.3
- Sequence:
- Chromosome: 14; NC_000014.9 (46839623..47675605, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MDGA2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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