EXOC6B (exocyst complex component 6B)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 23233
Gene name Exocyst complex component 6B
Gene symbol EXOC6B
Synonyms (NCBI Gene)
SEC15BSEC15L2SEMDJL3
Chromosome 2
Chromosome location 2p13.2
Summary 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.
4
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.
13
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0000145 Component Exocyst IBA
GO:0000145 Component Exocyst NAS 22420621
GO:0000281 Process Mitotic cytokinesis NAS 22420621
GO:0005515 Function Protein binding IPI 27173435, 32296183, 33961781
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607880 17085 ENSG00000144036
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spondyloepimetaphyseal dysplasia with joint laxity, type 3 Pathogenic; Likely pathogenic rs2104774484, rs2467829039, rs1294100541 RCV002267778
RCV004585169
RCV000767854
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EXOC6B-related disorder Likely benign; Benign; Uncertain significance rs201669709, rs143680902, rs753145570, rs372719061, rs373128726, rs941770307, rs2466380633, rs895049059, rs535862997, rs188707447, rs181182127, rs143694876, rs192879132, rs75680051 RCV003955996
RCV003951038
RCV003960906
RCV003961123
RCV003906427
RCV003981631
RCV003896459
RCV003899711
RCV003924724
RCV003915860
RCV003920700
RCV003922976
RCV003958291
RCV003915889
Malignant tumor of esophagus Likely benign; Benign rs200678276, rs368860726 RCV005926038
RCV005921284
Nonpapillary renal cell carcinoma Likely benign rs1448539943 RCV005928209
Schizophrenia Uncertain significance rs2466703370 RCV002463533
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
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