CCDC28B (coiled-coil domain containing 28B)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79140
Gene name Gene Name - the full gene name approved by the HGNC.
Coiled-coil domain containing 28B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCDC28B
Synonyms (NCBI Gene) Gene synonyms aliases
LTAP2B
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p35.2
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT2194840 hsa-miR-299-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16327777, 25416956, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
GO:0005813 Component Centrosome IDA 16327777
GO:0005813 Component Centrosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610162 28163 ENSG00000160050
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9BUN5
Protein name Coiled-coil domain-containing protein 28B
Protein function Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate ass
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13270 DUF4061 86 → 184 Domain of unknown function (DUF4061) Family
Sequence 
MDDKKKKRSPKPCLAQPAQAPGTLRRVPVPTSHSGSLALGLPHLPSPKQRAKFKRVGKEK
CRPVLAGGGSGSAGTPLQHSFLTEVTDVYEMEGGLLNLLNDFHSGRLQAFGKECSFEQLE
HVREMQEKLARLHFSLDVCGEEEDDEEEEDGVTEGLPEEQKKTMADRNLDQLLSNLEDLS
NSIQKLHLAENAEPEEQSAA
Sequence length 200
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)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
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
Bardet-Biedl Syndrome Bardet-Biedl syndrome 1, modifier of, bardet-biedl syndrome, Bardet-Biedl syndrome 1 N/A N/A ClinVar
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Common Variable Immunodeficiency Associate 34294890