Gene
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16327777, 25416956
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA 21873635
GO:0005813 Component Centrosome IDA 16327777
GO:0060271 Process Cilium assembly IMP 23015189
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610162 28163 ENSG00000160050
Protein
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
NSIQ
KLHLAENAEPEEQSAA
Sequence length 200
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Bardet-biedl syndrome Bardet-Biedl syndrome 1 (disorder) rs397704728, rs397515335, rs397515337, rs267607031, rs121918327, rs587777801, rs587777802, rs121918328, rs587777803, rs549625604, rs137852837, rs137852833, rs137852835, rs267606719, rs199874059
View all (560 more)
23015189
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma ClinVar
Specific learning disorder Specific learning disability ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Common Variable Immunodeficiency Associate 34294890