NECAB3: N-terminal EF-hand Calcium Binding Protein 3
A neuronal calcium-binding protein implicated in synaptic function and neurodevelopmental disorders.
Gene Information Card
| Symbol | NECAB3 |
|---|---|
| Full Name | N-terminal EF-hand calcium binding protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 63941 ncbi.nlm.nih.gov/gene/63941 |
| Ensembl ID | ENSG00000101191 |
| UniProt ID | Q96P71 |
| OMIM ID | 610278 |
| HGNC ID | 24533 |
| Aliases | EFCBP3, NIP1, XB-3 |
Description
NECAB3 (N-terminal EF-hand calcium binding protein 3) encodes a protein containing an N-terminal EF-hand calcium-binding domain. It is predominantly expressed in the brain and is involved in calcium-dependent signaling, synaptic vesicle trafficking, and neuronal differentiation. The protein interacts with other synaptic proteins and may play a role in neurodevelopmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with or without seizures | Altered calcium signaling and synaptic dysfunction | ClinVar: pathogenic variants reported in patients with developmental delay and seizures |
| Autism spectrum disorder | Disruption of calcium-dependent neuronal connectivity | OMIM: rare variants associated with ASD risk |
| Intellectual disability | Impaired synaptic plasticity due to NECAB3 dysfunction | NCBI Gene: loss-of-function mutations linked to ID |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 10.2 | Medium |
| Testis | 3.1 | Low |
| Heart | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| U-87 MG (glioblastoma) | 6.1 | Glial model |
| HEK293 (embryonic kidney) | 2.3 | Low expression |
| HeLa (cervical carcinoma) | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.256C>T (p.Arg86Trp) | Missense | <0.01% | Altered calcium binding affinity |
| c.412delG (p.Glu138Lysfs*5) | Frameshift | <0.01% | Loss of function |
| c.523G>A (p.Gly175Arg) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.412delG) lead to truncated protein and loss of calcium-binding activity.
Gain of Function (GOF)
No gain-of-function mutations reported in NECAB3.
Dominant Negative (DN)
Not established for NECAB3.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • axon (GO:0030424) |
| • synapse (GO:0045202) | • synapse organization (GO:0050808) |
Pathways
• Calcium signaling pathway (Reactome: R-HSA-4086398)
• Synaptic vesicle cycle (KEGG: hsa04721)
Protein Summary
NECAB3 is a 221-amino acid protein with a single N-terminal EF-hand domain that binds calcium. It localizes to the cytoplasm, plasma membrane, and synapses. The protein interacts with N-type calcium channels and synaptotagmin, modulating neurotransmitter release. Its expression is enriched in the brain, particularly in neurons, and it is essential for normal synaptic function and neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NECAB3 Knockout HEK293 Cell Line | EDJ-KQ14408 | Human | 63941 | Details Get a Quote |
| NECAB3 Knockout A-549 Cell Line | EDJ-KQ44598 | Human | 63941 | Details Get a Quote |
| NECAB3 Knockout HCT 116 Cell Line | EDJ-KQ44599 | Human | 63941 | Details Get a Quote |
| NECAB3 Knockout HeLa Cell Line | EDJ-KQ44600 | Human | 63941 | Details Get a Quote |
