NCKAP5
NCK-Associated Protein 5
Gene Information Card
| Symbol | NCKAP5 |
|---|---|
| Full Name | NCK-associated protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q21.2 |
| NCBI Gene ID | 344148 ncbi.nlm.nih.gov/gene/344148 |
| Ensembl ID | ENSG00000162949 |
| UniProt ID | Q6ZRY9 |
| OMIM ID | 615639 |
| HGNC ID | 29337 |
| Aliases | NAP5, Nckap5 |
Description
NCKAP5 (NCK-associated protein 5) is a protein-coding gene located on chromosome 2q21.2. It encodes a member of the NCK-associated protein family, which is involved in cytoskeletal organization and cell signaling. The protein contains multiple SH3 domains and is thought to play a role in neuronal development and synaptic function. Expression is enriched in brain tissues, particularly the cerebellum and cerebral cortex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered synaptic signaling and neuronal connectivity | Association studies (PMID: 25363760) |
| Schizophrenia | Potential dysregulation of cytoskeletal dynamics | GWAS (PMID: 25056061) |
| Intellectual disability | Disruption of NCKAP5 function affecting neurodevelopment | Rare variant studies (ClinVar) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.3 | Medium |
| Cerebral cortex | 9.8 | Medium |
| Hippocampus | 7.5 | Low |
| Testis | 4.2 | Low |
| Heart | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.6 | Neuronal model |
| U-87 MG (glioblastoma) | 5.4 | Glial model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to premature termination and likely haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton organization | • signal transduction |
| • protein binding | • SH3 domain binding |
| • neuron projection development |
Pathways
• NCK signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
NCKAP5 is a 1,125-amino acid protein containing multiple SH3 domains and a proline-rich region. It interacts with NCK adaptor proteins to regulate actin cytoskeleton dynamics, cell migration, and neurite outgrowth. The protein is predominantly expressed in the brain and is implicated in neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NCKAP5 Knockout HEK293 Cell Line | EDJ-KQ14392 | Human | 344148 | Details Get a Quote |
| NCKAP5L Knockout HEK293 Cell Line | EDJ-KQ14393 | Human | 57701 | Details Get a Quote |
| NCKAP5 Knockout A-549 Cell Line | EDJ-KQ44564 | Human | 344148 | Details Get a Quote |
| NCKAP5 Knockout HeLa Cell Line | EDJ-KQ44565 | Human | 344148 | Details Get a Quote |
| NCKAP5L Knockout A-549 Cell Line | EDJ-KQ44566 | Human | 57701 | Details Get a Quote |
| NCKAP5L Knockout HCT 116 Cell Line | EDJ-KQ44567 | Human | 57701 | Details Get a Quote |
| NCKAP5L Knockout HeLa Cell Line | EDJ-KQ44568 | Human | 57701 | Details Get a Quote |
| NCKAP5 Knockout HCT 116 Cell Line | EDJ-KQ76612 | Human | 344148 | Details Get a Quote |
