FAQ

B9D2 gene

Known as: B9 DOMAIN-CONTAINING PROTEIN 2, B9D2, MKS1-RELATED PROTEIN 2 
This gene plays a role in cilia formation.
National Institutes of Health

Topic mentions per year

Topic mentions per year

2008-2014
0120082014

Papers overview

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2015
2015
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
BACKGROUND Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive… (More)
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2015
2015
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing
Results Core JS diagnostic features (hypotonia, ataxia, cognitive dysfunction, oculo-motor apraxia) were present in >80% of… (More)
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2014
2014
Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks
Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases… (More)
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2011
2011
Disruption of a ciliary B9 protein complex causes Meckel syndrome.
Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause… (More)
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2008
2008
Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.
Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and Joubert syndrome (JBTS) are a group of heterogeneous cystic kidney… (More)
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