CTTNBP2NL
Cortactin Binding Protein 2 N-Terminal Like
Gene Information Card
| Symbol | CTTNBP2NL |
|---|---|
| Full Name | Cortactin Binding Protein 2 N-Terminal Like |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 55917 ncbi.nlm.nih.gov/gene/55917 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9P2B7 |
| OMIM ID | 611341 |
| HGNC ID | 25236 |
| Aliases | CTTNBP2 N-terminal like, FLJ10769, KIAA1489 |
Description
CTTNBP2NL encodes a protein that is similar to the N-terminal region of cortactin-binding protein 2 (CTTNBP2). The protein is involved in cytoskeletal organization and cell signaling, potentially modulating actin dynamics through interaction with cortactin. It is expressed in various tissues and may play a role in neuronal development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Potential association via synaptic dysfunction | Limited genetic association studies |
| Autism spectrum disorder | Possible role in neuronal connectivity | Rare variant studies |
| Cancer (various) | Altered expression may affect cell migration and invasion | Expression profiling in tumor samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 8.5 | Low |
| Kidney | 7.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | Neuronal model |
| HeLa (cervical carcinoma) | 9.2 | Epithelial |
| HEK293 (embryonic kidney) | 7.8 | Transformed |
| A549 (lung carcinoma) | 6.4 | Lung epithelial |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
| c.567G>A (p.Gly189Arg) | Missense | <0.01% | Unknown functional effect |
| c.890_891insA (p.Val297fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005737 (cytoplasm) |
| • GO:0005856 (cytoskeleton) | • GO:0030036 (actin cytoskeleton organization) |
| • GO:0045202 (synapse) |
Pathways
• Cortactin signaling pathway
• Actin cytoskeleton regulation
Protein Summary
The CTTNBP2NL protein (UniProt Q9P2B7) is 1,284 amino acids long and contains a coiled-coil domain. It localizes to the cytoplasm and cytoskeleton, where it interacts with cortactin to regulate actin dynamics. The protein is expressed in multiple tissues, with highest levels in brain and testis. Its function is implicated in cell migration and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTTNBP2NL Knockout HEK293 Cell Line | EDJ-KQ13052 | Human | 55917 | Details Get a Quote |
| CTTNBP2NL Knockout A-549 Cell Line | EDJ-KQ42325 | Human | 55917 | Details Get a Quote |
| CTTNBP2NL Knockout HCT 116 Cell Line | EDJ-KQ42326 | Human | 55917 | Details Get a Quote |
| CTTNBP2NL Knockout HeLa Cell Line | EDJ-KQ42327 | Human | 55917 | Details Get a Quote |
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