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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (4)
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
Bardet-Biedl syndrome Uncertain significance ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl syndrome 1 Benign; Likely benign ClinVar
CTD, ClinVar, Disgenet
CTD, ClinVar, Disgenet
CTD, ClinVar, Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl syndrome 1, modifier of Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CCDC28B-related disorder Uncertain significance; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (39)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Atresia of vagina Atresia Of Vagina HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Bardet-Biedl Syndrome Bardet-Biedl Syndrome LHGDN 16327777
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl Syndrome Bardet-Biedl Syndrome BEFREE 23015189, 29445114
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl syndrome 1 (disorder) Bardet-Biedl Syndrome GENOMICS_ENGLAND_DG 23015189
★★★★★
★☆☆☆☆
Found in Text Mining only
Bardet-Biedl syndrome 1 (disorder) Bardet-Biedl Syndrome CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only