Gene Gene information from NCBI Gene database.
Entrez ID 1059
Gene name Centromere protein B
Gene symbol CENPB
Synonyms (NCBI Gene)
-
Chromosome 20
Chromosome location 20p13
Summary This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and
miRNA miRNA information provided by mirtarbase database.
267
miRTarBase ID miRNA Experiments Reference
MIRT032351 hsa-let-7b-5p Proteomics 18668040
MIRT045539 hsa-miR-149-5p CLASH 23622248
MIRT043157 hsa-miR-324-5p CLASH 23622248
MIRT884651 hsa-miR-1184 CLIP-seq
MIRT884652 hsa-miR-1234 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IDA 2022189, 11084331, 11682612
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000779 Component Condensed chromosome, centromeric region IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
117140 1852 ENSG00000125817
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07199
Protein name Major centromere autoantigen B (Centromere protein B) (CENP-B)
Protein function Interacts with centromeric heterochromatin in chromosomes and binds to a specific 17 bp subset of alphoid satellite DNA, called the CENP-B box (PubMed:11726497). May organize arrays of centromere satellite DNA into a higher-order structure which
PDB 1BW6 , 1HLV , 1UFI , 6KDR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04218 CENP-B_N 2 56 CENP-B N-terminal DNA-binding domain Domain
PF03221 HTH_Tnp_Tc5 74 135 Tc5 transposase DNA-binding domain Domain
PF03184 DDE_1 222 384 DDE superfamily endonuclease Family
PF09026 CENP-B_dimeris 499 598 Centromere protein B dimerisation domain Domain
Sequence
Sequence length 599
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
BILIARY CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISEASES OF INNER EAR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS Disgenet
★★☆☆☆
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
Autoimmune Diseases Autoimmune disease Pubtator 1377670, 1730770 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35894385, 37925172 Associate
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 28259924
★☆☆☆☆
Found in Text Mining only
Isodicentric Chromosome 15 Syndrome Isodicentric Chromosome 15 Syndrome BEFREE 10398268
★☆☆☆☆
Found in Text Mining only
Lung Diseases, Interstitial Lung Diseases BEFREE 30685360
★☆☆☆☆
Found in Text Mining only
Lupus Nephritis Lupus nephritis Pubtator 36581379 Associate
★☆☆☆☆
Found in Text Mining only
Raynaud Disease Raynaud disease Pubtator 36581379 Associate
★☆☆☆☆
Found in Text Mining only
Scleroderma Systemic Systemic sclerosis Pubtator 1377670, 1712488, 36581379 Associate
★☆☆☆☆
Found in Text Mining only
Systemic Scleroderma Scleroderma BEFREE 28749191, 30685360, 8187334
★☆☆☆☆
Found in Text Mining only