INCENP (Inner Centromere Protein) Gene
Key regulator of chromosome segregation and cytokinesis
Gene Information Card
| Symbol | INCENP |
|---|---|
| Full Name | Inner centromere protein |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 3619 ncbi.nlm.nih.gov/gene/3619 |
| Ensembl ID | ENSG00000149131 |
| UniProt ID | Q9NQS7 |
| OMIM ID | 604411 |
| HGNC ID | 6058 |
| Aliases | INCENP, inner centromere protein, p135, INCENP1 |
Description
INCENP encodes a component of the chromosomal passenger complex (CPC), which includes Aurora B kinase, survivin, and borealin. The CPC is essential for chromosome alignment, spindle checkpoint activation, and cytokinesis. INCENP acts as a scaffold that targets Aurora B to centromeres and regulates its activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or mislocalization of INCENP leads to chromosomal instability and aneuploidy, promoting tumorigenesis. | PMID: 21909073, COSMIC |
| Breast cancer | Increased INCENP expression correlates with poor prognosis and genomic instability. | PMID: 25691885 |
| Colorectal cancer | INCENP amplification and overexpression contribute to mitotic defects. | PMID: 24803652 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | High |
| Bone marrow | 10.5 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.3 | Cervical cancer cell line |
| K562 | 15.7 | Leukemia cell line |
| A549 | 12.4 | Lung cancer cell line |
| MCF7 | 10.1 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown; found in COSMIC |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | <0.1% | Predicted loss of function |
| c.1567G>A (p.Gly523Arg) | Missense | <0.1% | Unknown; found in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function, impairing CPC assembly and mitotic progression.
Gain of Function (GOF)
Overexpression and amplification of INCENP in cancers suggest a potential gain-of-function role in promoting chromosomal instability.
Dominant Negative (DN)
Missense mutations in the IN-box domain may disrupt Aurora B binding, acting in a dominant-negative manner to impair CPC function.
View complete mutation data:
Gene Ontology (GO)
| • chromosome (GO:0000775) | • kinetochore (GO:0000776) |
| • condensed chromosome kinetochore (GO:0000777) | • spindle (GO:0005819) |
| • chromosome passenger complex (GO:0032133) | • cell division (GO:0051301) |
| • chromosome segregation (GO:0007059) | • mitotic spindle assembly checkpoint (GO:0007094) |
Pathways
• Chromosomal Passenger Complex (CPC) pathway
• Aurora B signaling
• Cell cycle - mitosis
Protein Summary
INCENP is a 918-amino acid protein that localizes to centromeres and the spindle midzone. It contains a conserved IN-box domain that binds and activates Aurora B kinase. Through its interaction with other CPC components, INCENP coordinates chromosome biorientation, spindle checkpoint signaling, and cytokinesis. Post-translational modifications, including phosphorylation by Aurora B, regulate its function.
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