CENPV (centromere protein V)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 201161
Gene name Centromere protein V
Gene symbol CENPV
Synonyms (NCBI Gene)
3110013H01RikCENP-VPRR6p30
Chromosome 17
Chromosome location 17p11.2
miRNA miRNA information provided by mirtarbase database.
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT032391 hsa-let-7b-5p Proteomics 18668040
MIRT049995 hsa-miR-28-5p CLASH 23622248
MIRT2198923 hsa-miR-4768-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IBA
GO:0000776 Component Kinetochore IDA 18772885
GO:0000776 Component Kinetochore IEA
GO:0001667 Process Ameboidal-type cell migration IDA 19930468
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608139 29920 ENSG00000166582
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z7K6
Protein name Centromere protein V (CENP-V) (Nuclear protein p30) (Proline-rich protein 6)
Protein function Required for distribution of pericentromeric heterochromatin in interphase nuclei and for centromere formation and organization, chromosome alignment and cytokinesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04828 GFA 170 → 257 Glutathione-dependent formaldehyde-activating enzyme Domain
Sequence 
MRRSRSSAAAKLRGQKRSGASGASAAPAASAAAALAPSATRTRRSASQAGSKSQAVEKPP
SEKPRLRRSSPRAQEEGPGEPPPPELALLPPPPPPPPTPATPTSSASNLDLGEQRERWET
FQKRQKLTSEGAAKLLLDTFEYQGLVKHTGGCHCGAVRFEVWASADLHIFDCNCSICKKK
QNRHFIVPASRFKLLKGAEHITTYTFNTHKAQHTFCKRCGVQSFYTPRSNPGGFGIAPHC
LDEGTVRSMVTEEFNGSDWEKAMKEHKTIKNMSKE
Sequence length 275
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
AMYOTROPHIC LATERAL SCLEROSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 27605212
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 20647569
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWASDB_DG 22959728
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWASCAT_DG 22959728, 24931836
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 22959728 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety Anxiety Disorder BEFREE 23907404
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 23907404
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 21216954
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 31260673 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 28604171, 31635964
★★★★★
★☆☆☆☆
Found in Text Mining only