ARL14EPL: ADP Ribosylation Factor Like GTPase 14 Effector Protein Like
A comprehensive biomedical overview of the ARL14EPL gene, including genomic context, expression patterns, and disease associations.
Gene Information Card
| Symbol | ARL14EPL |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 14 Effector Protein Like |
| Gene Type | protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000221955 |
| UniProt ID | A6NMK7 |
| OMIM ID | Not available |
| HGNC ID | HGNC:44529 |
| Aliases | ARL14EP-like, C2orf86 |
Description
ARL14EPL (ADP Ribosylation Factor Like GTPase 14 Effector Protein Like) is a protein-coding gene located on the short arm of chromosome 2 (2p23.3). It is a paralog of the ARL14EP gene. The encoded protein is predicted to be involved in intracellular vesicle trafficking, similar to its family members, by interacting with ADP-ribosylation factor (ARF) family GTPases. The gene is expressed in various tissues, with notable expression in the testis and skin. Its specific biological functions and full clinical significance are still under investigation, but it is considered a potential candidate in certain cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Potential involvement in tumorigenesis; expression changes may affect cellular processes. | In silico analysis; differential expression observed in cancer datasets (COSMIC). |
| Lung Cancer | Altered expression may contribute to cancer progression. | In silico analysis; differential expression observed in cancer datasets (COSMIC). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.5 | Medium |
| Skin | 6.2 | Low |
| Esophagus | 4.1 | Low |
| Brain | 2.8 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 3.2 | Low expression |
| A549 | 2.1 | Low expression |
| MCF7 | 1.8 | Low expression |
| K562 | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.412A>G (p.Thr138Ala) | Missense | 0.001% (gnomAD) | Unknown; predicted benign by in silico tools. |
| c.755C>T (p.Pro252Leu) | Missense | 0.002% (gnomAD) | Unknown; predicted possibly damaging by in silico tools. |
Mutation functional classification
Loss of Function (LOF)
No definitive loss-of-function mutations have been characterized for ARL14EPL. The impact of truncating variants is predicted to be deleterious, but functional assays are lacking.
Gain of Function (GOF)
No gain-of-function mutations have been identified or characterized for ARL14EPL.
Dominant Negative (DN)
No evidence for dominant-negative effects of ARL14EPL mutations has been reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • intracellular protein transport (GO:0006886) |
| • vesicle-mediated transport (GO:0016192) |
Pathways
• Intracellular vesicle trafficking (predicted)
• ADP-ribosylation factor signaling (predicted)
Protein Summary
The ARL14EPL protein (UniProt A6NMK7) is a 361-amino acid protein. It is predicted to contain coiled-coil regions and is likely localized to the cytoplasm or associated with vesicular structures. As an effector protein, it is expected to bind to ARL14 (ADP-ribosylation factor-like 14) GTPase and participate in the regulation of vesicle formation and transport. The exact molecular mechanism and interacting partners are yet to be fully experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL14EPL Knockout HEK293 Cell Line | EDJ-KQ12429 | Human | 644100 | Details Get a Quote |
| ARL14EPL Knockout HCT 116 Cell Line | EDJ-KQ41343 | Human | 644100 | Details Get a Quote |
| ARL14EPL Knockout HeLa Cell Line | EDJ-KQ60564 | Human | 644100 | Details Get a Quote |
| ARL14EPL Knockout A-549 Cell Line | EDJ-KQ69034 | Human | 644100 | Details Get a Quote |
