Gene Gene information from NCBI Gene database.
Entrez ID 401541
Gene name Centromere protein P
Gene symbol CENPP
Synonyms (NCBI Gene)
CENP-P
Chromosome 9
Chromosome location 9q22.31
Summary CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[sup
miRNA miRNA information provided by mirtarbase database.
287
miRTarBase ID miRNA Experiments Reference
MIRT051416 hsa-let-7e-5p CLASH 23622248
MIRT571038 hsa-miR-6858-3p PAR-CLIP 20371350
MIRT571036 hsa-miR-6769a-3p PAR-CLIP 20371350
MIRT571037 hsa-miR-125a-5p PAR-CLIP 20371350
MIRT571035 hsa-miR-125b-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000939 Component Inner kinetochore IPI 36085283
GO:0005515 Function Protein binding IPI 25416956, 26496610, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611505 32933 ENSG00000188312
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6IPU0
Protein name Centromere protein P (CENP-P)
Protein function Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesiz
PDB 7PB8 , 7PKN , 7QOO , 7R5S , 7R5V , 7XHN , 7XHO , 7YWX , 7YYH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13096 CENP-P 103 279 CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P Family
Sequence
Sequence length 288
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Deposition of new CENPA-containing nucleosomes at the centromere
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Low-frequency hearing loss Likely pathogenic rs767442671 RCV002246208
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Low-frequency sensorineural hearing impairment Likely pathogenic rs767442671 RCV002246208
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENPP-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Deafness Autosomal Dominant 1 Deafness Pubtator 36071244 Associate
★☆☆☆☆
Found in Text Mining only
Hearing Loss Sensorineural Hearing loss Pubtator 36071244 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 23418382 Associate
★☆☆☆☆
Found in Text Mining only
Lung Diseases Interstitial Lung disease Pubtator 23418382 Associate
★☆☆☆☆
Found in Text Mining only
Scleroderma Systemic Systemic sclerosis Pubtator 23418382 Associate
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of lung Lung carcinoma GWASCAT_DG 29924316
★☆☆☆☆
Found in Text Mining only