NECAP2: Adaptin Ear-Binding Coat-Associated Protein 2
Gene encoding a clathrin-coated vesicle accessory protein involved in endocytosis and intracellular trafficking.
Gene Information Card
| Symbol | NECAP2 |
|---|---|
| Full Name | NECAP endocytosis-associated 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 55707 ncbi.nlm.nih.gov/gene/55707 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9NVZ3 |
| OMIM ID | 609478 |
| HGNC ID | 25537 |
| Aliases | FLJ10718, MGC138499, MGC138500 |
Description
NECAP2 (NECAP endocytosis-associated 2) encodes a protein that functions as an accessory component of clathrin-coated vesicles. It binds to the ear domain of alpha-adaptin and is involved in endocytosis and intracellular trafficking. The protein contains a conserved N-terminal domain and a C-terminal region that mediates interactions with adaptor proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| K562 | 7.4 | Low expression |
| A549 | 6.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.001% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis (GO:0006897) | • clathrin coat of coated pit (GO:0030131) |
| • clathrin-coated vesicle membrane (GO:0030665) | • clathrin coat assembly (GO:0048268) |
| • protein transporter activity (GO:0008565) |
Pathways
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856825)
• Adaptor protein complex interactions (Reactome: R-HSA-8856828)
Protein Summary
NECAP2 is a 270-amino-acid protein that localizes to clathrin-coated pits and vesicles. It contains an N-terminal domain that binds to the ear domain of alpha-adaptin (AP2 complex) and a C-terminal region that interacts with other endocytic proteins. It is thought to regulate the assembly and function of clathrin coats during endocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NECAP2 Knockout HEK293 Cell Line | EDJ-KQ14409 | Human | 55707 | Details Get a Quote |
| NECAP2 Knockout A-549 Cell Line | EDJ-KQ44601 | Human | 55707 | Details Get a Quote |
| NECAP2 Knockout HCT 116 Cell Line | EDJ-KQ44602 | Human | 55707 | Details Get a Quote |
| NECAP2 Knockout HeLa Cell Line | EDJ-KQ44603 | Human | 55707 | Details Get a Quote |
