EPB41L2 erythrocyte membrane protein band 4.1 like 2
Gene ID: 2037, updated on 5-Mar-2024Gene type: protein coding
Also known as: 4.1G; 4.1-G
- See all available tests in GTR for this gene
- Go to complete Gene record for EPB41L2
- Go to Variation Viewer for EPB41L2 variants
Summary
Predicted to enable PH domain binding activity; cytoskeletal protein binding activity; and structural molecule activity. Involved in positive regulation of protein localization to cell cortex. Located in cell junction; nucleoplasm; and plasma membrane. Colocalizes with COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. GeneReviews: Not available | |
Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects. GeneReviews: Not available | |
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk. GeneReviews: Not available |
Genomic context
- Location:
- 6q23.1-q23.2
- Sequence:
- Chromosome: 6; NC_000006.12 (130839347..131063245, complement)
- Total number of exons:
- 25
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for EPB41L2 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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