NINL: Ninein-Like Protein Gene
A centrosomal protein gene implicated in ciliopathies and cancer
Gene Information Card
| Symbol | NINL |
|---|---|
| Full Name | ninein-like |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 22981 ncbi.nlm.nih.gov/gene/22981 |
| Ensembl ID | ENSG00000101076 |
| UniProt ID | Q9Y2I6 |
| OMIM ID | 609778 |
| HGNC ID | 24533 |
| Aliases | DKFZp686B20109, FLJ90086, MGC138290, NINL1 |
Description
NINL (ninein-like) encodes a centrosomal protein that localizes to the centrosome and is involved in microtubule organization and ciliogenesis. It interacts with other centrosomal components and is essential for proper cell division and primary cilium formation. Mutations and altered expression of NINL have been associated with ciliopathies and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Disruption of ciliary function due to NINL mutations affecting centrosome and cilia assembly | ClinVar, OMIM |
| Breast cancer | Overexpression of NINL may contribute to centrosome amplification and aneuploidy | COSMIC, PubMed |
| Colorectal cancer | Altered NINL expression linked to tumor progression and poor prognosis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| MCF7 | 8.7 | Breast cancer cell line |
| A549 | 7.5 | Lung cancer cell line |
| HEK293 | 6.8 | Embryonic kidney cell line |
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; associated with ciliopathy |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; likely pathogenic |
| c.2101G>A (p.Val701Met) | Missense | 0.01% | Unknown significance; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of centrosomal function, contributing to ciliary defects.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may act as a gain-of-function by promoting centrosome amplification.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • microtubule organizing center |
| • ciliary basal body | • protein binding |
| • cell division | • ciliogenesis |
Pathways
• Centrosome maturation
• Cilium assembly
• Cell cycle
Protein Summary
Ninein-like is a 748-amino acid protein (UniProt Q9Y2I6) that localizes to the centrosome and is involved in microtubule anchoring and ciliogenesis. It contains coiled-coil domains and interacts with other centrosomal proteins such as ninein and pericentrin. The protein is essential for proper centrosome duplication and primary cilium formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NINL Knockout HEK293 Cell Line | EDJ-KQ3317 | Human | 22981 | Details Get a Quote |
| NINL Knockout A-549 Cell Line | EDJ-KQ26266 | Human | 22981 | Details Get a Quote |
| NINL Knockout HCT 116 Cell Line | EDJ-KQ26267 | Human | 22981 | Details Get a Quote |
| NINL Knockout HeLa Cell Line | EDJ-KQ26268 | Human | 22981 | Details Get a Quote |
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