Property Summary

NCBI Gene PubMed Count 13
PubMed Score 3.83
PubTator Score 3.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
acute quadriplegic myopathy 1157 6.20960253283851E-6
group 3 medulloblastoma 2254 0.00536031525165088
psoriasis 6685 0.00678520622598004
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 0.007
acute quadriplegic myopathy -1.480 0.000
group 3 medulloblastoma 1.100 0.005

Synonym

Accession Q9BUN5 A8K789 Q8TBV8
Symbols

Gene

PANTHER Protein Class (1)

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG
Opossum OMA EggNOG Inparanoid
Platypus EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG

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.
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