PHIP Gene (Pleckstrin Homology Domain Interacting Protein)
A comprehensive biomedical overview of the PHIP gene, including its genomic context, expression, associated diseases, and functional roles.
Gene Information Card
| Symbol | PHIP |
|---|---|
| Full Name | Pleckstrin homology domain interacting protein |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 55023 ncbi.nlm.nih.gov/gene/55023 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q8WWQ0 |
| OMIM ID | 612870 |
| HGNC ID | 15673 |
| Aliases | BRWD2, WDR11, D6S2654E |
Description
The PHIP gene encodes the pleckstrin homology domain interacting protein, a member of the WD40 repeat-containing protein family. It is involved in chromatin remodeling, cell cycle regulation, and insulin/IGF signaling. PHIP interacts with pleckstrin homology domains and is implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with autism and dysmorphic facies (IDDAD) | Loss-of-function mutations in PHIP disrupt chromatin binding and neuronal gene expression | ClinVar, OMIM #612870 |
| Breast cancer | PHIP overexpression promotes cell proliferation and metastasis via PI3K/AKT pathway | COSMIC, PubMed studies |
| Melanoma | PHIP amplification drives tumor growth and resistance to apoptosis | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | Medium |
| Testis | 18.7 | Medium |
| Breast | 12.1 | Low |
| Lung | 9.8 | Low |
| Liver | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.5 | Embryonic kidney, high expression |
| MCF7 | 15.3 | Breast cancer, moderate expression |
| SH-SY5Y | 19.8 | Neuroblastoma, high expression |
| A549 | 11.2 | Lung cancer, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, truncated protein |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function, premature stop |
| c.2345A>G (p.Tyr782Cys) | Missense | 0.02% | Unknown significance, potential structural impact |
| Amplification (6q14.1) | Copy number gain | 5-10% in melanoma | Gain of function, increased expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PHIP lead to haploinsufficiency, associated with intellectual disability and autism.
Gain of Function (GOF)
Gene amplification and overexpression in cancers (e.g., melanoma, breast cancer) promote oncogenic signaling.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • chromatin remodeling (GO:0006338) | • cell population proliferation (GO:0008283) |
| • sequence-specific DNA binding (GO:0043565) |
Pathways
• PI3K/AKT signaling pathway
• Chromatin remodeling
• Insulin/IGF signaling pathway
Protein Summary
PHIP is a 1,821-amino acid protein containing WD40 repeats and a pleckstrin homology domain-interacting region. It localizes to the nucleus and functions as a chromatin-associated factor, regulating transcription of genes involved in cell cycle and metabolism. Its interaction with insulin receptor substrate (IRS) proteins links it to growth factor signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHIP Knockout HEK293 Cell Line | EDJ-KQ14746 | Human | 55023 | Details Get a Quote |
| PHIP Knockout A-549 Cell Line | EDJ-KQ45110 | Human | 55023 | Details Get a Quote |
| PHIP Knockout HCT 116 Cell Line | EDJ-KQ45111 | Human | 55023 | Details Get a Quote |
| PHIP Knockout HeLa Cell Line | EDJ-KQ45112 | Human | 55023 | Details Get a Quote |
