EXOC6B (exocyst complex component 6B)

Gene

• Entrez ID: 23233
• Gene name: Exocyst complex component 6B
• Gene symbol: EXOC6B
• Synonyms (NCBI Gene): SEC15B, SEC15L2, SEMDJL3
• 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 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

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
MIRT531599	hsa-miR-6849-3p	PAR-CLIP	22012620
MIRT531598	hsa-miR-6516-3p	PAR-CLIP	22012620
MIRT531597	hsa-miR-7977	PAR-CLIP	22012620
MIRT733949	hsa-miR-421	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blotting	32884301
MIRT531600	hsa-miR-5588-3p	PAR-CLIP	22012620
MIRT531599	hsa-miR-6849-3p	PAR-CLIP	22012620
MIRT531598	hsa-miR-6516-3p	PAR-CLIP	22012620
MIRT531597	hsa-miR-7977	PAR-CLIP	22012620

Gene ontology (GO)

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
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006887	Process	Exocytosis	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0006893	Process	Golgi to plasma membrane transport	IBA
GO:0006904	Process	Vesicle docking involved in exocytosis	NAS	22420621
GO:0015031	Process	Protein transport	IEA
GO:0090148	Process	Membrane fission	NAS	22420621
GO:0090522	Process	Vesicle tethering involved in exocytosis	IEA
GO:0090522	Process	Vesicle tethering involved in exocytosis	NAS	22420621

Other IDs

• MIM: 607880
• HGNC: 17085
• e!Ensembl: ENSG00000144036

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spondyloepimetaphyseal dysplasia with joint laxity, type 3	Pathogenic; Likely pathogenic	rs2104774484, rs2467829039, rs1294100541	RCV002267778 RCV004585169 RCV000767854	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOC6B-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, EXOC6B TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autistic Disorder	Autism	Pubtator	23422942	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	23422942	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	23837398	Associate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	CLINVAR_DG	23422942, 25256811		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	23422942	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	25256811		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	26669664		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	CLINVAR_DG	23422942, 25256811		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36047377	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	23422942	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23422942, 25256811		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	23422942, 25256811		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23837398	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25256811		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	23837398	Associate	★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	26669664		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG	23422942, 25256811		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG	23422942, 25256811		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG	23422942, 25256811		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	CLINVAR_DG	23422942, 25256811		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Spondyloepimetaphyseal Dysplasia With Joint Laxity	ORPHANET_DG	26669664, 30284759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal dysplasia with joint laxity	Spondyloepimetaphyseal Dysplasia With Joint Laxity	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations