PLEKHF2 pleckstrin homology and FYVE domain containing 2
Gene ID: 79666, updated on 17-Jun-2024Gene type: protein coding
Also known as: EAPF; PHAFIN2; ZFYVE18
- See all available tests in GTR for this gene
- Go to complete Gene record for PLEKHF2
- Go to Variation Viewer for PLEKHF2 variants
Summary
Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in protein transport. Located in transport vesicle. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines. GeneReviews: Not available |
Genomic context
- Location:
- 8q22.1
- Sequence:
- Chromosome: 8; NC_000008.11 (95133785..95156685)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLEKHF2 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.