Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about C21ORF2: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
C21ORF2 is a gene implicated in neurodegeneration research. Key relationships include: associated with, therapeutic target, implicated in. Associated with Als, Amyotrophic Lateral Sclerosis, Ms. Connected to 26 entities in the SciDEX knowledge graph.
| Gene Symbol | C21ORF2 |
| Full Name | C21orf2 — Chromosome 21 Open Reading Frame 2 |
| Aliases | Chromosome 21 Open Reading Frame 2 |
| Chromosome | 21 |
| Protein Type | Gene |
| Function | C21orf2 participates in centrosome and basal-body biology, helping coordinate ciliary assembly and organization.[@wheway2015][@reiter2017] In neuronal systems, cilia regulate signaling pathways releva |
| Subcellular Localization | ciliary/centrosomal compartments and variants in both genes appear in ALS cohorts.[@van2016][@kenna2016] |
| NCBI Gene ID | Search NCBI |
| GeneCards | C21ORF2 |
| Human Protein Atlas | C21ORF2 |
| Associated Diseases | Als, Amyotrophic Lateral Sclerosis |
| Interactions | KIF5A, NEK1, TBK1, ALS |
| KG Connections | 41 knowledge graph edges |
| Databases | GeneCardsUniProtHPASTRING |
Knowledge base pages for this entity
graph TD
C21ORF2["<b>C21ORF2</b>"]
Amyotrophic_Lateral_Sclerosis{"Amyotrophic Lateral Sclerosis"}
C21ORF2 -->|"therapeutic target"| Amyotrophic_Lateral_Sclerosis
Ms{"Ms"}
C21ORF2 -->|"therapeutic target"| Ms
Als{"Als"}
C21ORF2 -->|"associated with"| Als
NEK1["NEK1"]
C21ORF2 -->|"associated with"| NEK1
SOD1["SOD1"]
C21ORF2 -->|"therapeutic target"| SOD1
TBK1["TBK1"]
C21ORF2 -->|"associated with"| TBK1
GENES["GENES"]
C21ORF2 -->|"associated with"| GENES
DNA["DNA"]
C21ORF2 -->|"therapeutic target"| DNA
CHCHD10["CHCHD10"]
C21ORF2 -->|"associated with"| CHCHD10
neurodegeneration["neurodegeneration"]
C21ORF2 -->|"implicated in"| neurodegeneration
CHCHD10 -->|"associated with"| C21ORF2
style C21ORF2 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| Amyotrophic Lateral Sclerosis | therapeutic_target | disease | 0.65 |
| Ms | therapeutic_target | disease | 0.65 |
| Als | associated_with | disease | 0.65 |
| Als | contributes_to | disease | 0.65 |
| Amyotrophic Lateral Sclerosis | implicated_in | disease | 0.65 |
| NEK1 | associated_with | gene | 0.60 |
| SOD1 | therapeutic_target | gene | 0.60 |
| TBK1 | associated_with | gene | 0.60 |
| CHCHD10 | associated_with | gene | 0.60 |
| VCP | associated_with | gene | 0.60 |
| KIF5A | interacts_with | gene | 0.60 |
| NEK1 | interacts_with | gene | 0.60 |
| TBK1 | interacts_with | gene | 0.60 |
| NEK1 | activates | gene | 0.60 |
| NEK1 | regulates | gene | 0.60 |
| GENES | associated_with | gene | 0.60 |
| DNA | therapeutic_target | gene | 0.60 |
| AMYOTROPHIC LATERAL SCLEROSIS | implicated_in | gene | 0.60 |
| AMYOTROPHIC LATERAL SCLEROSIS | therapeutic_target | gene | 0.60 |
| Dna Repair | therapeutic_target | pathway | 0.60 |
| neurons | expressed_in | cell_type | 0.60 |
| stem cells | expressed_in | cell_type | 0.60 |
| apoptosis pathway | participates_in | pathway | 0.60 |
| DNA | regulates | gene | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| CHCHD10 | associated_with | gene | 0.60 |
| NEK1 | contributes_to | gene | 0.60 |
| VCP | contributes_to | gene | 0.60 |
| TBK1 | associated_with | gene | 0.60 |
| NEK1 | associated_with | gene | 0.60 |
| ALS | contributes_to | gene | 0.60 |
| MOTOR NEURONS | implicated_in | gene | 0.60 |
| MATR3 | associated_with | gene | 0.60 |
| MITOCHONDRIAL DYSFUNCTION | therapeutic_target | gene | 0.60 |
| ALS | associated_with | gene | 0.60 |
| GENES | associated_with | gene | 0.60 |
| AND | associated_with | gene | 0.60 |
| AMYOTROPHIC LATERAL SCLEROSIS | therapeutic_target | gene | 0.60 |
| ALS | interacts_with | gene | 0.60 |
| ALS | expressed_in | gene | 0.60 |
| ALS | regulates | gene | 0.60 |
| ALS | activates | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
neurodegeneration | 2026-04-13 | 1 hypotheses Top: 0.520
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||