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CFDP1 (craniofacial development protein 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10428
Gene nameGene Name - the full gene name approved by the HGNC.
Craniofacial development protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CFDP1
SynonymsGene synonyms aliases
BCNT, BUCENTAUR, CENP-29, CP27, SWC5, Yeti, p97
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.1
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT725575 hsa-miR-513a-5p HITS-CLIP 19536157
MIRT725576 hsa-miR-27b-3p HITS-CLIP 19536157
MIRT725577 hsa-miR-27a-3p HITS-CLIP 19536157
MIRT728208 hsa-miR-30d-5p HITS-CLIP 22473208
MIRT728209 hsa-miR-30e-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:0000777 Component Condensed chromosome kinetochore IEA
GO:0003674 Function Molecular_function ND
GO:0005575 Component Cellular_component ND
GO:0007155 Process Cell adhesion IEA
GO:0007275 Process Multicellular organism development IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MEEFDSEDFSTSEEDEDYVPSGGEYSEDDVNELVKEDEVDGEEQTQKTQGKKRKAQSIPA
RKRRQGGLSLEEEEEEDANSESEGSSSEEEDDAAEQEKGIGSEDARKKKEDELWASFLND
VGPKSKVPPSTQVKKGEETEETSSSKLLVKAEELEKPKETEKVKITKVFDFAGEEVRVTK
EVDATSKEAKSFFKQNEKEKPQANVPSALPSLPAGSGLKRSSGMSSLLGKIGAKKQKMST
LEKSKLDWESFKEEEGIGEELAIHNRGKEGYIERKAFLDRVDHRQFEIERDLRLS
KMKP
Sequence length 299
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778, 28714974, 30940143
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs-1 30804561, 30940143
Migraine Migraine Disorders rs794727411 27322543, 27182965
Moyamoya disease Moyamoya Disease, Moyamoya disease 1 rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs-1, rs2079443410 29273593
Unknown
Disease name Disease term dbSNP ID References
Atherosclerosis Atherosclerosis rs699947, rs59439148 23152477
Cardiovascular diseases Cardiovascular Diseases 30595370
Carotid atherosclerosis Carotid Atherosclerosis 30510157

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