CCDC28B (coiled-coil domain containing 28B)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 79140
Gene name Coiled-coil domain containing 28B
Gene symbol CCDC28B
Synonyms (NCBI Gene)
LTAP2B
Chromosome 1
Chromosome location 1p35.2
Summary 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.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610162 28163 ENSG00000160050
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.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bardet-Biedl syndrome Uncertain significance rs41263993 RCV000585768
Bardet-Biedl syndrome 1 Benign; Likely benign rs6697820 RCV002489389
Bardet-Biedl syndrome 1, modifier of Uncertain significance rs41263993 RCV000001389
CCDC28B-related disorder Uncertain significance; Likely benign rs41263993, rs768743189 RCV005357053
RCV003979450
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Common Variable Immunodeficiency Associate 34294890