FHIP2A
FHF complex subunit HOOK interacting protein 2A
Gene Information Card
| Symbol | FHIP2A |
|---|---|
| Full Name | FHF complex subunit HOOK interacting protein 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | A0A1B0GTV5 |
| OMIM ID | - |
| HGNC ID | HGNC:37289 |
| Aliases | FHIP2A, C10orf79, bA346P15.1 |
Description
FHIP2A encodes a component of the FHF (FTS/Hook/FHIP) complex, which is involved in the perinuclear localization of endosomes and in the regulation of ciliary trafficking. The protein interacts with HOOK proteins and FTS to facilitate microtubule-dependent transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated in ClinVar or OMIM | - | - |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.5 | Low |
| Lung | 3.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.7 | Moderate expression |
| HeLa | 5.3 | Moderate expression |
| K562 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | - | - | - |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cytoplasm |
| • endosome | • microtubule |
| • ciliary transport |
Pathways
• FHF complex-mediated endosomal trafficking
Protein Summary
FHIP2A is a 244-amino acid protein that localizes to the cytoplasm and endosomes. It is a subunit of the FHF complex, which tethers endosomes to microtubules via HOOK proteins and FTS. This complex is essential for proper endosome positioning and ciliary function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FHIP2A Knockout HEK293 Cell Line | EDJ-KQ13481 | Human | 57700 | Details Get a Quote |
| FHIP2A Knockout A-549 Cell Line | EDJ-KQ43076 | Human | 57700 | Details Get a Quote |
| FHIP2A Knockout HeLa Cell Line | EDJ-KQ43077 | Human | 57700 | Details Get a Quote |
| FHIP2A Knockout HCT 116 Cell Line | EDJ-KQ41824 | Human | 57700 | Details Get a Quote |
