ARFIP2
ADP Ribosylation Factor Interacting Protein 2
Gene Information Card
| Symbol | ARFIP2 |
|---|---|
| Full Name | ADP Ribosylation Factor Interacting Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 23647 ncbi.nlm.nih.gov/gene/23647 |
| Ensembl ID | ENSG00000132286 |
| UniProt ID | P53365 |
| OMIM ID | 605371 |
| HGNC ID | 17197 |
| Aliases | POR1, ARFIP2, ARF interacting protein 2 |
Description
ARFIP2 (ADP Ribosylation Factor Interacting Protein 2) encodes a protein that interacts with ADP-ribosylation factors (ARFs), which are small GTPases involved in vesicular trafficking and actin cytoskeleton remodeling. The encoded protein contains a coiled-coil domain and is implicated in membrane trafficking and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered ARFIP2 expression may affect ARF-mediated signaling and cytoskeletal dynamics, contributing to tumor progression. | ClinVar, COSMIC |
| Lung cancer | Mutations and expression changes in ARFIP2 have been observed in lung adenocarcinoma samples. | COSMIC |
| Colorectal cancer | Somatic mutations in ARFIP2 have been reported in colorectal cancer tissues. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 9.7 | Low |
| Kidney | 7.4 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 8.5 | Cervical cancer cells |
| A549 | 7.2 | Lung cancer cells |
| MCF7 | 9.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.1% | Unknown functional impact |
| c.689A>G (p.Asn230Ser) | Missense | <0.1% | Unknown functional impact |
| c.1003G>A (p.Gly335Arg) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ARFIP2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ARFIP2.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in ARFIP2.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • protein binding |
| • intracellular protein transport | • actin cytoskeleton organization |
| • vesicle-mediated transport |
Pathways
• ARF6 signaling pathway
• Vesicular transport
• Actin cytoskeleton regulation
Protein Summary
ARFIP2 is a 341-amino acid protein that contains a coiled-coil domain and interacts with ADP-ribosylation factors (ARFs), particularly ARF6. It is involved in regulating membrane trafficking and actin cytoskeleton dynamics, playing a role in cell migration and adhesion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARFIP2 Knockout HEK293 Cell Line | EDJ-KQ8109 | Human | 23647 | Details Get a Quote |
| ARFIP2 Knockout A-549 Cell Line | EDJ-KQ33981 | Human | 23647 | Details Get a Quote |
| ARFIP2 Knockout HCT 116 Cell Line | EDJ-KQ33982 | Human | 23647 | Details Get a Quote |
| ARFIP2 Knockout HeLa Cell Line | EDJ-KQ33983 | Human | 23647 | Details Get a Quote |
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