Property Summary

NCBI Gene PubMed Count 13
Grant Count 1
Funding $33,857.14
PubMed Score 4.58
PubTator Score 5.28

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
glioblastoma -1.200 0.000
medulloblastoma, large-cell -1.500 0.000
Breast cancer 2.700 0.038
adult high grade glioma -1.200 0.000
invasive ductal carcinoma -1.200 0.007
acute myeloid leukemia -1.100 0.041

Gene RIF (4)

PMID Text
25256811 EXOC6B and the exocyst complex might play an important role in the molecular pathogenesis of intellectual disability.
23837398 We report a 2p13.2 microdeletion in 2 subjects encompasing 2 genes, EXOC6B and CYP26B12 with clinical effects on cognitive function, and craniofacial and skeletal development.
22433857 Data suggest that the Rabin8-Rab8-Sec15 interaction may couple the activation of Rab8 to the recruitment of the Rab8 effector and is involved in the regulation of vesicular trafficking for primary cilium formation.
18424204 TNS3-EXOC6B and EXOC6B-TNS3 fusion transcripts are detected in a premature male newborn with a complex multisystemic phenotype associated with a balanced translocation.

AA Sequence

MERGKMAEAESLETAAEHERILREIESTDTACIGPTLRSVYDGEEHGRFMEKLETRIRNHDREIEKMCNF      1 - 70
HYQGFVDSITELLKVRGEAQKLKNQVTDTNRKLQHEGKELVIAMEELKQCRLQQRNISATVDKLMLCLPV     71 - 140
LEMYSKLRDQMKTKRHYPALKTLEHLEHTYLPQVSHYRFCKVMVDNIPKLREEIKDVSMSDLKDFLESIR    141 - 210
KHSDKIGETAMKQAQQQRNLDNIVLQQPRIGSKRKSKKDAYIIFDTEIESTSPKSEQDSGILDVEDEEDD    211 - 280
EEVPGAQDLVDFSPVYRCLHIYSVLGARETFENYYRKQRRKQARLVLQPPSNMHETLDGYRKYFNQIVGF    281 - 350
FVVEDHILHTTQGLVNRAYIDELWEMALSKTIAALRTHSSYCSDPNLVLDLKNLIVLFADTLQVYGFPVN    351 - 420
QLFDMLLEIRDQYSETLLKKWAGIFRNILDSDNYSPIPVTSEEMYKKVVGQFPFQDIELEKQPFPKKFPF    421 - 490
SEFVPKVYNQIKEFIYACLKFSEDLHLSSTEVDDMIRKSTNLLLTRTLSNSLQNVIKRKNIGLTELVQII    491 - 560
INTTHLEKSCKYLEEFITNITNVLPETVHTTKLYGTTTFKDARHAAEEEIYTNLNQKIDQFLQLADYDWM    561 - 630
TGDLGNKASDYLVDLIAFLRSTFAVFTHLPGKVAQTACMSACKHLATSLMQLLLEAEVRQLTLGALQQFN    631 - 700
LDVRECEQFARSGPVPGFQEDTLQLAFIDLRQLLDLFIQWDWSTYLADYGQPNCKYLRVNPVTALTLLEK    701 - 770
MKDTSRKNNMFAQFRKNERDKQKLIDTVAKQLRGLISSHHS                                 771 - 811
//

Text Mined References (16)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26669664 2016 A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
23837398 2013 Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
23809228 2013 Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6B genes.
23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
22433857 2012 A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis.
21269460 2011 Initial characterization of the human central proteome.
18424204 Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
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