EFR3B EFR3 homolog B
Gene ID: 22979, updated on 28-Oct-2024Gene type: protein coding
Also known as: KIAA0953
- See all available tests in GTR for this gene
- Go to complete Gene record for EFR3B
- Go to Variation Viewer for EFR3B variants
Summary
Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in actin cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. GeneReviews: Not available | |
| Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. GeneReviews: Not available | |
| Genome-wide association study of body mass index in 23 000 individuals with and without asthma. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available |
Genomic context
- Location:
- 2p23.3
- Sequence:
- Chromosome: 2; NC_000002.12 (25042076..25159135)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EFR3B 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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