Property Summary

NCBI Gene PubMed Count 13
PubMed Score 4.58
PubTator Score 5.28

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (6)

Disease log2 FC p
glioblastoma -1.200 7.9e-06
medulloblastoma, large-cell -1.500 1.9e-05
Breast cancer 2.700 3.8e-02
adult high grade glioma -1.200 7.5e-05
invasive ductal carcinoma -1.200 6.7e-03
acute myeloid leukemia -1.100 4.1e-02

Synonym

Accession Q9Y2D4 B8ZZY3
Symbols SEC15B
SEC15L2

Gene

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

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.
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.
11406615 2001 The brain exocyst complex interacts with RalA in a GTP-dependent manner: identification of a novel mammalian Sec3 gene and a second Sec15 gene.
10231032 1999 Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
9847074 1998 Toward a complete human genome sequence.