Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10428
Gene name Gene Name - the full gene name approved by the HGNC.
Craniofacial development protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFDP1
Synonyms (NCBI Gene) Gene synonyms aliases
BCNT, BUCENTAUR, CENP-29, CP27, SWC5, Yeti, p97
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT725577 hsa-miR-27a-3p HITS-CLIP 19536157
MIRT725576 hsa-miR-27b-3p HITS-CLIP 19536157
MIRT725575 hsa-miR-513a-5p HITS-CLIP 19536157
MIRT728212 hsa-miR-30a-5p HITS-CLIP 22473208
MIRT728211 hsa-miR-30b-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IEA
GO:0000812 Component Swr1 complex IBA
GO:0005694 Component Chromosome IEA
GO:0006338 Process Chromatin remodeling IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608108 1873 ENSG00000153774
Protein
UniProt ID Q9UEE9
Protein name Craniofacial development protein 1 (Bucentaur)
Protein function May play a role during embryogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07572 BCNT 221 295 Bucentaur or craniofacial development Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9602175}.
Sequence
MEEFDSEDFSTSEEDEDYVPSGGEYSEDDVNELVKEDEVDGEEQTQKTQGKKRKAQSIPA
RKRRQGGLSLEEEEEEDANSESEGSSSEEEDDAAEQEKGIGSEDARKKKEDELWASFLND
VGPKSKVPPSTQVKKGEETEETSSSKLLVKAEELEKPKETEKVKITKVFDFAGEEVRVTK
EVDATSKEAKSFFKQNEKEKPQANVPSALPSLPAGSGLKRSSGMSSLLGKIGAKKQKMST
LEKSKLDWESFKEEEGIGEELAIHNRGKEGYIERKAFLDRVDHRQFEIERDLRLS
KMKP
Sequence length 299
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Intracranial Aneurysm Intracranial aneurysm N/A N/A GWAS
Moyamoya Disease Moyamoya disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 24397353
Carcinoma Hepatocellular Stimulate 35861040
Coronary Artery Disease Associate 25093840
Craniofacial Abnormalities Associate 28367969
Developmental Disabilities Associate 28367969
Encephalitis Associate 21061152
Neoplasms Associate 35861040
Pancreatic Neoplasms Associate 31917448, 32907841
Pulmonary Disease Chronic Obstructive Associate 35308900
Substance Related Disorders Associate 29455858