Property Summary

NCBI Gene PubMed Count 13
PubMed Score 3.83
PubTator Score 3.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count P-value
acute quadriplegic myopathy 1157 6.2e-06
group 3 medulloblastoma 2254 5.4e-03
psoriasis 6685 6.8e-03
Disease Target Count Z-score Confidence
Bardet-Biedl Syndrome 40 5.243 2.6
Obesity 616 0.0 4.0
Disease Target Count Z-score Confidence
Ciliopathy 57 4.876 2.4
Congenital nystagmus 26 3.741 1.9
Disease Target Count
Bardet-Biedl syndrome 1 22

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis 1.100 6.8e-03
acute quadriplegic myopathy -1.480 6.2e-06
group 3 medulloblastoma 1.100 5.4e-03

Gene RIF (4)

PMID Text
23727834 Findings implicate CCDC28B in the regulation of mTORC2, and uncover a novel function of SIN1 regulating cilia length that is likely independent of mTOR signaling.
23015189 reports CCDC28B as a novel protein involved in the process of ciliogenesis whilst providing functional insight into the cellular basis of its modifier effect in Bardet-Biedl syndrome.
19402160 Observational study of gene-disease association. (HuGE Navigator)
16327777 identification of a novel locus, MGC1203, that contributes epistatic alleles to Bardet-Biedl syndrome, a pleiotropic, oligogenic disorder; MGC1203 encodes a pericentriolar protein that interacts and colocalizes with the BBS proteins

AA Sequence

MDDKKKKRSPKPCLAQPAQAPGTLRRVPVPTSHSGSLALGLPHLPSPKQRAKFKRVGKEKCRPVLAGGGS      1 - 70
GSAGTPLQHSFLTEVTDVYEMEGGLLNLLNDFHSGRLQAFGKECSFEQLEHVREMQEKLARLHFSLDVCG     71 - 140
EEEDDEEEEDGVTEGLPEEQKKTMADRNLDQLLSNLEDLSNSIQKLHLAENAEPEEQSAA              141 - 200
//

Text Mined References (16)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
23727834 2013 The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23015189 2013 Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19402160 2009 BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16327777 2006 Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.