CENPH Gene - Centromere Protein H
Essential component of the constitutive centromere-associated network (CCAN) for kinetochore assembly and chromosome segregation.
Gene Information Card
| Symbol | CENPH |
|---|---|
| Full Name | centromere protein H |
| Gene Type | protein coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 64946 ncbi.nlm.nih.gov/gene/64946 |
| Ensembl ID | ENSG00000153044 |
| UniProt ID | Q9H3R5 |
| OMIM ID | 605607 |
| HGNC ID | 17268 |
| Aliases | ICEN24, CENP-H, NY-REN-22 |
Description
CENPH (centromere protein H) encodes a component of the constitutive centromere-associated network (CCAN). CENPH is essential for proper kinetochore assembly, microtubule attachment, and accurate chromosome segregation during mitosis. It localizes to the inner kinetochore and interacts with other CCAN proteins including CENP-C, CENP-I, and CENP-K. Dysregulation of CENPH expression is associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of CENPH contributes to chromosomal instability and tumor progression. | PMID: 23468923 |
| Hepatocellular carcinoma | Upregulation of CENPH promotes cell proliferation and poor prognosis. | PMID: 26119739 |
| Colorectal cancer | CENPH overexpression correlates with advanced tumor stage and metastasis. | PMID: 27555519 |
| Microcephaly (primary) | Biallelic loss-of-function mutations in CENPH cause autosomal recessive primary microcephaly. | PMID: 26299366 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 24.5 | High |
| Bone marrow | 18.3 | Medium |
| Lymph node | 15.7 | Medium |
| Brain | 6.2 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical carcinoma cell line |
| K562 | 19.8 | Leukemia cell line |
| HepG2 | 17.4 | Hepatocellular carcinoma cell line |
| MCF7 | 15.6 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | Rare | Loss of protein expression; associated with microcephaly |
| c.277C>T (p.Arg93*) | Nonsense | Rare | Premature truncation; loss of function |
| c.416_417del (p.Glu139Glyfs*4) | Frameshift deletion | Rare | Frameshift leading to premature stop |
| c.688G>A (p.Glu230Lys) | Missense | Unknown | Potential impact on CCAN interaction |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, start loss) cause primary microcephaly due to impaired kinetochore assembly and mitotic defects.
Gain of Function (GOF)
Not described; overexpression in cancers is likely due to transcriptional dysregulation rather than activating mutations.
Dominant Negative (DN)
Not reported for CENPH.
View complete mutation data：
Gene Ontology (GO)
| • chromosome (GO:0000775) | • kinetochore (GO:0000776) |
| • condensed chromosome kinetochore (GO:0000777) | • protein binding (GO:0005515) |
| • cell cycle (GO:0007049) | • cell division (GO:0051301) |
| • chromosome segregation (GO:0007059) |
Pathways
• KEGG: hsa04110 - Cell cycle
• Reactome: R-HSA-141444 - Amplification of signal from the kinetochores
• Reactome: R-HSA-68877 - Mitotic Prometaphase
Protein Summary
Centromere protein H (CENP-H) is a 247-amino acid protein (28 kDa) that localizes to the inner kinetochore throughout the cell cycle. It is a core component of the CCAN, which recruits the KMN network and spindle checkpoint proteins. CENP-H interacts directly with CENP-I and CENP-K, and its depletion leads to mislocalization of other CCAN components, defective kinetochore assembly, and chromosome missegregation. The protein contains a coiled-coil domain essential for centromere targeting.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CENPH Knockout HEK293 Cell Line | EDJ-KQ51635 | Human | 64946 | Details Get a Quote |
| CENPH Knockout HeLa Cell Line | EDJ-KQ57096 | Human | 64946 | Details Get a Quote |
| CENPH Knockout A-549 Cell Line | EDJ-KQ65608 | Human | 64946 | Details Get a Quote |
| CENPH Knockout HCT 116 Cell Line | EDJ-KQ74036 | Human | 64946 | Details Get a Quote |
