SIPA1L2 Gene
Signal-induced proliferation-associated 1 like 2
Gene Information Card
| Symbol | SIPA1L2 |
|---|---|
| Full Name | Signal-induced proliferation-associated 1 like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.2 |
| NCBI Gene ID | 57568 ncbi.nlm.nih.gov/gene/57568 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q9H0H5 |
| OMIM ID | 609275 |
| HGNC ID | 20210 |
| Aliases | KIAA1389, SPAL2 |
Description
SIPA1L2 encodes a member of the signal-induced proliferation-associated (SIPA) family of Rap GTPase-activating proteins (RapGAPs). The protein contains a RapGAP domain and a PDZ domain, and is involved in regulating Rap1 and Rap2 signaling, which influences cell adhesion, migration, and proliferation. SIPA1L2 is expressed in multiple tissues and has been implicated in neurological and cancer-related processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Altered Rap signaling affecting neuronal morphology | Limited evidence; case reports in ClinVar |
| Cancer (various) | Dysregulation of cell adhesion and proliferation via RapGAP activity | COSMIC somatic mutation data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 7.1 | Low |
| Testis | 15.2 | Medium |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| SH-SY5Y | 14.8 | Higher expression in neuronal line |
| A549 | 6.7 | 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 |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.2345A>G (p.Tyr782Cys) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rap GTPase activator activity |
| • PDZ domain binding | • Cytoplasm |
| • Cell junction | • Synapse |
Pathways
• Rap1 signaling pathway
• Rap2 signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
SIPA1L2 is a 1503-amino acid protein that functions as a Rap GTPase-activating protein. It contains an N-terminal RapGAP domain and a C-terminal PDZ domain. The protein localizes to the cytoplasm and cell junctions, and is involved in modulating Rap1 and Rap2 activity, thereby influencing cell adhesion, migration, and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SIPA1L2 Knockout HEK293 Cell Line | EDJ-KQ1323 | Human | 57568 | Details Get a Quote |
| SIPA1L2 Knockout A-549 Cell Line | EDJ-KQ20760 | Human | 57568 | Details Get a Quote |
| SIPA1L2 Knockout HCT 116 Cell Line | EDJ-KQ20761 | Human | 57568 | Details Get a Quote |
| SIPA1L2 Knockout HeLa Cell Line | EDJ-KQ20762 | Human | 57568 | Details Get a Quote |
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