Property Summary

NCBI Gene PubMed Count 25
PubMed Score 15.26
PubTator Score 12.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Disease log2 FC p
gastric cancer 1.400 4.7e-04
hepatocellular carcinoma 1.500 3.8e-06
astrocytic glioma -1.900 1.4e-02
ependymoma -2.500 1.5e-02
osteosarcoma -3.291 1.4e-08
medulloblastoma -1.600 2.2e-05
atypical teratoid / rhabdoid tumor -2.200 6.3e-06
glioblastoma -1.700 6.7e-04
medulloblastoma, large-cell -3.100 1.1e-04
tuberculosis and treatment for 6 months -1.700 1.2e-05
intraductal papillary-mucinous adenoma (... -1.400 4.4e-05
intraductal papillary-mucinous carcinoma... -1.700 3.5e-06
intraductal papillary-mucinous neoplasm ... -1.700 2.6e-04
interstitial cystitis 1.400 1.0e-04
adult high grade glioma -1.500 5.6e-04
lung carcinoma 2.300 8.7e-40
facioscapulohumeral dystrophy 2.000 1.3e-02

Gene RIF (9)

PMID Text
26739247 RAB39B mutations are a rare finding in Parkinson disease patients
26399558 RAB39B is an essential regulator of vesicular-trafficking in clinically typical Parkinson's disease
26163985 It plays little or no role in the development of PD in Chinese population.
25784538 RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition
25434005 The loss of RAB39B results in dysregulation of alpha-synuclein homeostasis and a spectrum of neuropathological features that implicate RAB39B in the pathogenesis of Parkinson disease and potentially other neurodegenerative disorders.
24357492 increased dosage of RAB39B causes a disturbed neuronal development leading to cognitive impairment
24006491 Data indicate that myosin Va interacted with multiple new Rab subfamilies including Rab6, Rab14 and Rab39B.
20159109 These results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities.
12438742 RAB39B was expressed in a variety of human tissues and located in human chromosome Xq28.

AA Sequence

MEAIWLYQFRLIVIGDSTVGKSCLIRRFTEGRFAQVSDPTVGVDFFSRLVEIEPGKRIKLQIWDTAGQER      1 - 70
FRSITRAYYRNSVGGLLLFDITNRRSFQNVHEWLEETKVHVQPYQIVFVLVGHKCDLDTQRQVTRHEAEK     71 - 140
LAAAYGMKYIETSARDAINVEKAFTDLTRDIYELVKRGEITIQEGWEGVKSGFVPNVVHSSEEVVKSERR    141 - 210
CLC                                                                       211 - 213
//

Text Mined References (26)

PMID Year Title
26739247 2016 RAB39B mutations are a rare finding in Parkinson disease patients.
26399558 2015 The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.
26163985 2015 Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.
25784538 2015 The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.
25434005 2014 Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with ?-synuclein pathology.
25416956 2014 A proteome-scale map of the human interactome network.
24705354 2014 The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.
24357492 2014 Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.
24349490 2013 Rab39a interacts with phosphatidylinositol 3-kinase and negatively regulates autophagy induced by lipopolysaccharide stimulation in macrophages.
24006491 2013 Identification and characterization of multiple novel Rab-myosin Va interactions.
22615763 2012 Cystatin a, a potential common link for mutant myocilin causative glaucoma.
20159109 2010 Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16381901 2006 The LIFEdb database in 2006.
15772651 2005 The DNA sequence of the human X chromosome.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
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.
12438742 2002 Isolation and characterization of a human novel RAB (RAB39B) gene.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.
11050621 2000 Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.