MAL2 mal, T cell differentiation protein 2
Gene ID: 114569, updated on 17-Jun-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for MAL2
- Go to Variation Viewer for MAL2 variants
Summary
This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study. GeneReviews: Not available | |
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. GeneReviews: Not available | |
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels. GeneReviews: Not available |
Genomic context
- Location:
- 8q24.12
- Sequence:
- Chromosome: 8; NC_000008.11 (119208363..119245673)
- Total number of exons:
- 4
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for MAL2 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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