NCDN (Neurochondrin)
A gene encoding a leucine-rich repeat protein involved in neuronal development, synaptic plasticity, and potential roles in neuropsychiatric disorders and cancer.
Gene Information Card
| Symbol | NCDN |
|---|---|
| Full Name | Neurochondrin |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 23154 ncbi.nlm.nih.gov/gene/23154 |
| Ensembl ID | ENSG00000117640 |
| UniProt ID | Q9UBB6 |
| OMIM ID | 608458 |
| HGNC ID | 17610 |
| Aliases | KIAA0607, NCDN1 |
Description
NCDN (neurochondrin) encodes a leucine-rich repeat (LRR) protein that is highly expressed in the brain. It plays a critical role in neuronal development, neurite outgrowth, and synaptic plasticity by modulating glutamate receptor signaling and cytoskeletal dynamics. The protein is also implicated in bone development and has been associated with neuropsychiatric conditions such as schizophrenia and bipolar disorder, as well as certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered NCDN expression may disrupt glutamatergic signaling and synaptic function, contributing to disease pathophysiology. | NCBI Gene, OMIM |
| Bipolar disorder | Genetic variants and expression changes in NCDN have been linked to mood regulation and synaptic plasticity deficits. | NCBI Gene, OMIM |
| Intellectual disability | Rare variants in NCDN may impair neuronal development and cognitive function. | ClinVar |
| Breast cancer | NCDN overexpression has been observed in some breast cancer cell lines, potentially influencing cell proliferation and migration. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 25.3 | High |
| Cerebellum | 18.7 | Medium |
| Heart | 4.2 | Low |
| Liver | 1.5 | Not detected |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 22.1 | High expression; used in neuronal differentiation studies |
| HEK293 (embryonic kidney) | 8.5 | Moderate expression |
| MCF7 (breast cancer) | 15.4 | Elevated compared to normal breast tissue |
| HeLa (cervical cancer) | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; rare variant reported in ClinVar |
| c.452G>A (p.Arg151Gln) | Missense | <0.01% | Potentially damaging; associated with intellectual disability |
| c.788_789insA (p.Tyr263*) | Frameshift/nonsense | <0.01% | Loss of function; reported in neurodevelopmental disorders |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Tyr263*) are predicted to cause loss of function by truncating the protein, likely impairing neurite outgrowth and synaptic signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations have been reported for NCDN.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for NCDN mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glutamatergic synapse (Reactome: R-HSA-112314)
• Signaling by NTRK1 (TRKA) (Reactome: R-HSA-187037)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
Neurochondrin is a 729-amino acid protein containing leucine-rich repeats (LRRs) that mediate protein-protein interactions. It localizes to the cytoplasm, plasma membrane, and synapses, where it regulates glutamate receptor trafficking and cytoskeletal organization. The protein is essential for normal brain development and function, and its dysregulation is linked to neuropsychiatric disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NCDN Knockout HEK293 Cell Line | EDJ-KQ7855 | Human | 23154 | Details Get a Quote |
| NCDN Knockout A-549 Cell Line | EDJ-KQ33415 | Human | 23154 | Details Get a Quote |
| NCDN Knockout HCT 116 Cell Line | EDJ-KQ33416 | Human | 23154 | Details Get a Quote |
| NCDN Knockout HeLa Cell Line | EDJ-KQ33417 | Human | 23154 | Details Get a Quote |
