KIAA0319L Gene
KIAA0319L: A Transmembrane Protein Linked to Neuronal Development and Cancer Susceptibility
Gene Information Card
| Symbol | KIAA0319L |
|---|---|
| Full Name | KIAA0319L (KIAA0319-like) |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 57804 ncbi.nlm.nih.gov/gene/57804 |
| Ensembl ID | ENSG00000142611 |
| UniProt ID | Q8IZP0 |
| OMIM ID | 613524 |
| HGNC ID | 28985 |
| Aliases | KIAA0319L, AAG6, KIAA0319-like |
Description
KIAA0319L encodes a transmembrane protein belonging to the KIAA0319 family. The protein is involved in cell adhesion, neuronal migration, and may play a role in cancer progression. It is expressed in multiple tissues, with highest levels in brain and testis. Variants in KIAA0319L have been associated with susceptibility to certain cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered expression and mutations may affect cell adhesion and proliferation pathways. | COSMIC database reports somatic mutations in colorectal tumors. |
| Lung Cancer | Somatic mutations and copy number alterations observed in lung adenocarcinoma. | COSMIC and ClinVar entries. |
| Neurodevelopmental Disorders | Rare variants may disrupt neuronal migration and synaptic function. | OMIM #613524 and literature. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 15.3 | Medium |
| Lung | 8.1 | Low |
| Colon | 6.4 | Low |
| Kidney | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| SH-SY5Y | 14.7 | Neuroblastoma cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| HCT116 | 6.5 | Colorectal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Truncated protein, likely loss of function |
| c.567G>A (p.Val189Met) | Missense | 0.2% | Unknown functional effect |
| c.890_891insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to premature stop codons, resulting in truncated or absent protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations in KIAA0319L.
Dominant Negative (DN)
Not reported for KIAA0319L.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • neuron migration (GO:0001764) |
Pathways
• Cell adhesion molecules (CAMs)
• Neuronal migration signaling
Protein Summary
KIAA0319L is a 1015-amino acid transmembrane protein with a large extracellular domain containing multiple fibronectin type III repeats. It is predicted to function in cell-cell adhesion and neuronal migration. The protein is localized to the plasma membrane and is expressed in brain and other tissues. Structural modeling suggests it may interact with other membrane proteins to modulate signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIAA0319L Knockout HEK293 Cell Line | EDC90164 | Human | 79932 | Details Get a Quote |
| KIAA0319L Knockout HCT 116 Cell Line | EDJ-KQ22438 | Human | 79932 | Details Get a Quote |
| KIAA0319L Knockout A-549 Cell Line | EDJ-KQ23807 | Human | 79932 | Details Get a Quote |
| KIAA0319L Knockout HeLa Cell Line | EDJ-KQ23809 | Human | 79932 | Details Get a Quote |
