RILPL2
Rab Interacting Lysosomal Protein Like 2
Gene Information Card
| Symbol | RILPL2 |
|---|---|
| Full Name | Rab Interacting Lysosomal Protein Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 196383 ncbi.nlm.nih.gov/gene/196383 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q5VXY3 |
| OMIM ID | 614563 |
| HGNC ID | 29247 |
| Aliases | FLJ13154, RLP2 |
Description
RILPL2 (Rab Interacting Lysosomal Protein Like 2) is a protein-coding gene that encodes a member of the RILP (Rab-interacting lysosomal protein) family. The protein is involved in lysosomal trafficking and ciliogenesis, interacting with small Rab GTPases to regulate vesicular transport and primary cilium formation. It is expressed in multiple tissues and has been implicated in cellular processes related to endocytosis and autophagy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Orofacial cleft | Potential role in craniofacial development; variants may disrupt lysosomal trafficking affecting cell signaling | ClinVar |
| Primary ciliary dyskinesia | Defects in ciliogenesis due to RILPL2 dysfunction impair motile cilia function | UniProt |
| Cancer (various) | Altered expression may influence tumor progression via lysosomal and ciliary pathways | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| A549 | 6.5 | Lung carcinoma cells |
| K562 | 4.3 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | Rare | Unknown functional impact |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Potential loss of function |
| c.724_726del (p.Lys242del) | In-frame deletion | Rare | May affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense variants may impair Rab binding or lysosomal targeting, reducing ciliogenesis efficiency.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not documented; potential if mutant protein interferes with wild-type function in dimerization.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • endosomal transport (GO:0016197) |
| • endocytic recycling (GO:0032456) | • cilium assembly (GO:0060271) |
| • lysosome (GO:0005764) | • Golgi apparatus (GO:0005794) |
Pathways
• Lysosomal trafficking (Reactome: R-HSA-432722)
• Cilium assembly (Reactome: R-HSA-5620920)
• Rab regulation of trafficking (Reactome: R-HSA-9007101)
Protein Summary
RILPL2 is a 401-amino acid protein that localizes to lysosomes and endosomes. It contains a conserved RILP homology domain that mediates interaction with Rab GTPases (e.g., Rab36). The protein facilitates the transport of vesicles along microtubules and is essential for primary cilium formation. It is widely expressed, with highest levels in testis and brain. Post-translational modifications include phosphorylation, which may regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RILPL2 Knockout HEK293 Cell Line | EDJ-KQ15076 | Human | 196383 | Details Get a Quote |
| RILPL2 Knockout A-549 Cell Line | EDJ-KQ45641 | Human | 196383 | Details Get a Quote |
| RILPL2 Knockout HCT 116 Cell Line | EDJ-KQ45642 | Human | 196383 | Details Get a Quote |
| RILPL2 Knockout HeLa Cell Line | EDJ-KQ45643 | Human | 196383 | Details Get a Quote |
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