FHIP2B Gene: FHF Complex Subunit FHIP2B – Function, Expression, and Clinical Relevance
Comprehensive biomedical resource for FHIP2B (FHF complex subunit FHIP2B), including genomic annotation, expression profiles, disease associations, and mutation data from authoritative databases.
Gene Information Card
| Symbol | FHIP2B |
|---|---|
| Full Name | FHF complex subunit FHIP2B |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 286151 ncbi.nlm.nih.gov/gene/286151 |
| Ensembl ID | ENSG00000177311 |
| UniProt ID | Q5T0F9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:37236 |
| Aliases | FHIP2B, C8orf58, FLJ45244 |
Description
FHIP2B (FHF complex subunit FHIP2B) is a protein-coding gene located on chromosome 8p21.3. It encodes a component of the FHF (FHIP and FHBP) complex, which is involved in vesicular transport and protein trafficking. The gene is expressed in various tissues, with notable levels in the brain and testis. FHIP2B has been implicated in certain cancers and neurodevelopmental conditions, though its full clinical significance is still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression and potential role in tumor progression; specific mechanism not fully defined. | COSMIC: somatic mutations and copy number alterations observed in various cancer types. |
| Neurodevelopmental disorders | Possible involvement in neuronal vesicle trafficking; mutations may disrupt synaptic function. | ClinVar: rare variants reported in patients with intellectual disability (limited evidence). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Low |
| Lung | 5.2 | Low |
| Liver | 3.1 | Not detected |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 7.8 | Moderate expression in cervical cancer cells |
| A549 | 6.1 | Low expression in lung carcinoma cells |
| MCF7 | 4.3 | Low expression in breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.452C>T (p.Pro151Leu) | Missense | 0.01% (gnomAD) | Unknown; predicted benign by in silico tools. |
| c.788A>G (p.Asn263Ser) | Missense | 0.005% (gnomAD) | Unknown; may affect protein stability. |
| c.1021delC (p.Leu341TrpfsTer5) | Frameshift | Rare (COSMIC) | Loss of function; likely pathogenic if homozygous. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein are likely loss-of-function, potentially impairing FHF complex function and vesicular trafficking.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported for FHIP2B.
Dominant Negative (DN)
Missense mutations in conserved domains could exert dominant-negative effects by disrupting complex assembly, but no confirmed cases.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cytoplasm |
| • vesicle-mediated transport | • protein-containing complex |
Pathways
• Vesicle-mediated transport
• FHF complex pathway (inferred)
Protein Summary
The FHIP2B protein is a subunit of the FHF complex, which is involved in the regulation of vesicular transport between the endoplasmic reticulum and Golgi apparatus. It contains coiled-coil domains that mediate protein-protein interactions. The protein is localized in the cytoplasm and may play a role in neuronal development and cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FHIP2B Knockout HEK293 Cell Line | EDJ-KQ13483 | Human | 64760 | Details Get a Quote |
| FHIP2B Knockout A-549 Cell Line | EDJ-KQ43078 | Human | 64760 | Details Get a Quote |
| FHIP2B Knockout HCT 116 Cell Line | EDJ-KQ43079 | Human | 64760 | Details Get a Quote |
| FHIP2B Knockout HeLa Cell Line | EDJ-KQ43080 | Human | 64760 | Details Get a Quote |
