NCLN (Nicalin) Gene
NCLN: A Key Regulator of Nodal Signaling and Embryonic Development
Gene Information Card
| Symbol | NCLN |
|---|---|
| Full Name | Nicalin |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 56926 ncbi.nlm.nih.gov/gene/56926 |
| Ensembl ID | ENSG00000125952 |
| UniProt ID | Q969V3 |
| OMIM ID | 609156 |
| HGNC ID | 29232 |
| Aliases | FLJ12529, Nicalin |
Description
The NCLN gene encodes nicalin, a transmembrane protein that functions as a component of the Nodal signaling pathway, essential for embryonic development and left-right axis determination. Nicalin forms a complex with NOMO1 and is involved in the regulation of Nodal receptor trafficking and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease | Disruption of Nodal signaling due to NCLN mutations may impair cardiac left-right patterning | ClinVar |
| Heterotaxy syndrome | NCLN variants can alter Nodal pathway function, leading to abnormal organ situs | OMIM |
| Ciliopathies | NCLN interacts with ciliary proteins; defects may affect ciliary signaling | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
| SH-SY5Y | 9.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Potential loss of function in Nodal signaling |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown significance |
| c.1573_1574del (p.Leu525fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated or absent nicalin protein, impairing Nodal signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may exert dominant-negative effects by disrupting NCLN-NOMO1 complex formation.
View complete mutation data：
Gene Ontology (GO)
| • Nodal signaling pathway | • transmembrane transport |
| • protein binding | • integral component of membrane |
| • endoplasmic reticulum membrane |
Pathways
• Nodal signaling pathway
• Left-right axis determination
Protein Summary
Nicalin is a 564-amino-acid transmembrane protein localized to the endoplasmic reticulum and plasma membrane. It forms a complex with NOMO1 and is required for efficient Nodal signaling, which is critical for embryonic patterning and organ situs determination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NCLN Knockout HEK293 Cell Line | EDJ-KQ14394 | Human | 56926 | Details Get a Quote |
| NCLN Knockout A-549 Cell Line | EDJ-KQ44569 | Human | 56926 | Details Get a Quote |
| NCLN Knockout HeLa Cell Line | EDJ-KQ44571 | Human | 56926 | Details Get a Quote |
| NCLN Knockout HCT 116 Cell Line | EDJ-KQ43317 | Human | 56926 | Details Get a Quote |
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