EXOC6B (exocyst complex component 6B)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23233
Gene name Gene Name - the full gene name approved by the HGNC.
Exocyst complex component 6B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EXOC6B
Synonyms (NCBI Gene) Gene synonyms aliases
SEC15B, SEC15L2, SEMDJL3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SEMDJL3
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with p
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs1064795104 A>C Likely-pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs1195320854 G>A Likely-pathogenic Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, 5 prime UTR variant
rs1294100541 A>G,T Pathogenic Stop gained, genic upstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs1553417206 T>C Likely-pathogenic Intron variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
miRTarBase ID miRNA Experiments Reference
MIRT029989 hsa-miR-26b-5p Microarray 19088304
MIRT050246 hsa-miR-25-3p CLASH 23622248
MIRT043420 hsa-miR-331-3p CLASH 23622248
MIRT041913 hsa-miR-484 CLASH 23622248
MIRT531600 hsa-miR-5588-3p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0000145 Component Exocyst IBA 21873635
GO:0005515 Function Protein binding IPI 27173435, 32296183
GO:0006887 Process Exocytosis IBA 21873635
GO:0006893 Process Golgi to plasma membrane transport IBA 21873635
GO:0006904 Process Vesicle docking involved in exocytosis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607880 17085 ENSG00000144036
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y2D4
Protein name Exocyst complex component 6B (Exocyst complex component Sec15B) (SEC15-like protein 2)
Protein function Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04091 Sec15 465 → 771 Exocyst complex subunit Sec15-like Family
Sequence 
MERGKMAEAESLETAAEHERILREIESTDTACIGPTLRSVYDGEEHGRFMEKLETRIRNH
DREIEKMCNFHYQGFVDSITELLKVRGEAQKLKNQVTDTNRKLQHEGKELVIAMEELKQC
RLQQRNISATVDKLMLCLPVLEMYSKLRDQMKTKRHYPALKTLEHLEHTYLPQVSHYRFC
KVMVDNIPKLREEIKDVSMSDLKDFLESIRKHSDKIGETAMKQAQQQRNLDNIVLQQPRI
GSKRKSKKDAYIIFDTEIESTSPKSEQDSGILDVEDEEDDEEVPGAQDLVDFSPVYRCLH
IYSVLGARETFENYYRKQRRKQARLVLQPPSNMHETLDGYRKYFNQIVGFFVVEDHILHT
TQGLVNRAYIDELWEMALSKTIAALRTHSSYCSDPNLVLDLKNLIVLFADTLQVYGFPVN
QLFDMLLEIRDQYSETLLKKWAGIFRNILDSDNYSPIPVTSEEMYKKVVGQFPFQDIELE
KQPFPKKFPFSEFVPKVYNQIKEFIYACLKFSEDLHLSSTEVDDMIRKSTNLLLTRTLSN
SLQNVIKRKNIGLTELVQIIINTTHLEKSCKYLEEFITNITNVLPETVHTTKLYGTTTFK
DARHAAEEEIYTNLNQKIDQFLQLADYDWMTGDLGNKASDYLVDLIAFLRSTFAVFTHLP
GKVAQTACMSACKHLATSLMQLLLEAEVRQLTLGALQQFNLDVRECEQFARSGPVPGFQE
DTLQLAFIDLRQLLDLFIQWDWSTYLADYGQPNCKYLRVNPVTALTLLEKMKDTSRKNNM
FAQFRKNERDKQKLIDTVAKQLRGLISSHHS
Sequence length 811
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)		 23422942, 25256811
Ectopia lentis Ectopia Lentis rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Spondyloepimetaphyseal Dysplasia With Joint Laxity spondyloepimetaphyseal dysplasia with joint laxity, type 3, spondyloepimetaphyseal dysplasia with joint laxity GenCC
Neuroblastoma Neuroblastoma Loss of SNAI2 function reduces self-renewal, 3D invasion as well as metastatic spread in vivo, while strongly sensitizing neuroblastoma cells to RA-induced growth inhibition. GWAS, CBGDA
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining
Disease Name Relationship Type References
Autistic Disorder Associate 23422942
Congenital Abnormalities Associate 23422942
Craniofacial Abnormalities Associate 23837398
Delayed Cranial Ossification due to CBFB Haploinsufficiency Associate 23837398
Developmental Disabilities Associate 23422942
Endometrial Neoplasms Associate 36047377
Epilepsy Associate 23422942
HEM dysplasia Associate 26669664
Intellectual Disability Associate 23837398
Joint Dislocations Associate 26669664