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 phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, J... See more...

Aliases for EXOC6B Gene

Aliases for EXOC6B Gene

  • Exocyst Complex Component 6B 2 3 4 5
  • Exocyst Complex Component Sec15B 3 4
  • SEC15-Like Protein 2 3 4
  • KIAA0919 2 4
  • SEC15L2 3 4
  • SEC15B 3 4
  • SEC15 Homolog B (S. Cerevisiae) 2
  • SEC15-Like 2 (S. Cerevisiae) 2
  • SEC15 Homolog B 3
  • SEMDJL3 3
  • EXOC6B 5

External Ids for EXOC6B Gene

Previous HGNC Symbols for EXOC6B Gene

  • SEC15L2
  • SEC15B

Previous GeneCards Identifiers for EXOC6B Gene

  • GC02M072256
  • GC02M072403
  • GC02M072142

Summaries for EXOC6B Gene

Entrez Gene Summary for EXOC6B 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 phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]

GeneCards Summary for EXOC6B Gene

EXOC6B (Exocyst Complex Component 6B) is a Protein Coding gene. Diseases associated with EXOC6B include Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 and Spondyloepimetaphyseal Dysplasia With Joint Laxity. Among its related pathways are Cytoskeleton remodeling_RalA regulation pathway. An important paralog of this gene is EXOC6.

UniProtKB/Swiss-Prot Summary for EXOC6B Gene

  • Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EXOC6B Gene

Genomics for EXOC6B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EXOC6B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J072824 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.8 790 2.9 SP1 ZNF600 SIX5 SSRP1 JUND ATF2 CEBPA ZNF10 ATF3 POLR2A EXOC6B lnc-SFXN5-3 CYP26B1
GH02J072778 Enhancer 0.7 Ensembl 15.7 +45.9 45940 4.2 CEBPB HOMEZ EP300 STAT3 ZNF316 FOSL2 JUND FOXP1 PRDM6 SOX5 EXOC6B CYP26B1 SPR EMX1 RAB11FIP5 piR-50444-251 lnc-SPR-2
GH02J072745 Enhancer 0.9 Ensembl ENCODE 10.8 +80.2 80231 0.8 ZNF654 REST KLF11 CTCF ZNF217 FOXA2 ZNF511 RAD21 RFX5 SMC3 EXOC6B ENSG00000212378 RF00004-058 RNU2-39P CYP26B1
GH02J072771 Enhancer 0.7 ENCODE 11.1 +55.0 54954 0.1 ZNF654 CEBPA ZNF10 BRCA1 CTCF REST CEBPB TRIM22 THAP11 MAFF EXOC6B SPR piR-50444-251 lnc-SPR-2 CYP26B1
GH02J072744 Enhancer 0.7 Ensembl 10.8 +81.8 81841 0.8 FOXA2 SAP130 RFX5 THRB FOXP1 BCL6 SOX5 HMG20A ZNF792 NR2F6 EXOC6B SPR ENSG00000212378 RF00004-058 RNU2-39P CYP26B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXOC6B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EXOC6B

Top Transcription factor binding sites by QIAGEN in the EXOC6B gene promoter:
  • Bach1
  • E4BP4
  • HNF-1
  • HNF-1A
  • IRF-2
  • Nkx2-5
  • PPAR-alpha
  • RORalpha2
  • S8
  • TGIF

Genomic Locations for EXOC6B Gene

Latest Assembly
chr2:72,175,984-72,826,041
(GRCh38/hg38)
Size:
650,058 bases
Orientation:
Minus strand

Previous Assembly
chr2:72,403,113-73,053,162
(GRCh37/hg19 by Entrez Gene)
Size:
650,050 bases
Orientation:
Minus strand

chr2:72,403,113-73,053,170
(GRCh37/hg19 by Ensembl)
Size:
650,058 bases
Orientation:
Minus strand

Genomic View for EXOC6B Gene

Genes around EXOC6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOC6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOC6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOC6B Gene

Proteins for EXOC6B Gene

  • Protein details for EXOC6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2D4-EXC6B_HUMAN
    Recommended name:
    Exocyst complex component 6B
    Protein Accession:
    Q9Y2D4
    Secondary Accessions:
    • B8ZZY3

    Protein attributes for EXOC6B Gene

    Size:
    811 amino acids
    Molecular mass:
    94201 Da
    Quaternary structure:
    • The exocyst complex is composed of SEC3, SEC5, SEC6, SEC8, SEC10, SEC15, EXO70 and EXO84.
    SequenceCaution:
    • Sequence=BAA76763.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for EXOC6B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXOC6B Gene

Post-translational modifications for EXOC6B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EXOC6B Gene

Domains & Families for EXOC6B Gene

Gene Families for EXOC6B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EXOC6B Gene

InterPro:
Blocks:
  • Exocyst complex subunit Sec15-like

Suggested Antigen Peptide Sequences for EXOC6B Gene

GenScript: Design optimal peptide antigens:
  • SEC15-like protein 2 (EXC6B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2D4

UniProtKB/Swiss-Prot:

EXC6B_HUMAN :
  • Belongs to the SEC15 family.
Family:
  • Belongs to the SEC15 family.
genes like me logo Genes that share domains with EXOC6B: view

Function for EXOC6B Gene

Molecular function for EXOC6B Gene

UniProtKB/Swiss-Prot Function:
Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.

Phenotypes From GWAS Catalog for EXOC6B Gene

Gene Ontology (GO) - Molecular Function for EXOC6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27173435
genes like me logo Genes that share ontologies with EXOC6B: view
genes like me logo Genes that share phenotypes with EXOC6B: view

Human Phenotype Ontology for EXOC6B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC6B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EXOC6B Gene

Localization for EXOC6B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EXOC6B gene
Compartment Confidence
nucleus 2
cytosol 2
golgi apparatus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXOC6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst IEA,IBA 21873635
GO:0016020 membrane IBA 21873635
genes like me logo Genes that share ontologies with EXOC6B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EXOC6B Gene

Pathways & Interactions for EXOC6B Gene

PathCards logo

SuperPathways for EXOC6B Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling_RalA regulation pathway
-
genes like me logo Genes that share pathways with EXOC6B: view

Pathways by source for EXOC6B Gene

1 GeneGo (Thomson Reuters) pathway for EXOC6B Gene
  • Cytoskeleton remodeling_RalA regulation pathway

Gene Ontology (GO) - Biological Process for EXOC6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA,IBA 21873635
GO:0006893 Golgi to plasma membrane transport IBA 21873635
GO:0006904 vesicle docking involved in exocytosis IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with EXOC6B: view

No data available for SIGNOR curated interactions for EXOC6B Gene

Drugs & Compounds for EXOC6B Gene

No Compound Related Data Available

Transcripts for EXOC6B Gene

mRNA/cDNA for EXOC6B Gene

6 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC6B

Alternative Splicing Database (ASD) splice patterns (SP) for EXOC6B Gene

No ASD Table

Relevant External Links for EXOC6B Gene

GeneLoc Exon Structure for
EXOC6B

Expression for EXOC6B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EXOC6B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EXOC6B Gene

This gene is overexpressed in Bone (53.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXOC6B Gene



Protein tissue co-expression partners for EXOC6B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EXOC6B

SOURCE GeneReport for Unigene cluster for EXOC6B Gene:

Hs.303454

Evidence on tissue expression from TISSUES for EXOC6B Gene

  • Nervous system(4.7)
  • Heart(2.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with EXOC6B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXOC6B Gene

Orthologs for EXOC6B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOC6B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EXOC6B 29 30
  • 99.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EXOC6B 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia EXOC6B 29 30
  • 95.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EXOC6B 30
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Exoc6b 29 16 30
  • 92.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Exoc6b 29
  • 91.89 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EXOC6B 30
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EXOC6B 29 30
  • 81.6 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EXOC6B 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia exoc6b 29
  • 75.64 (n)
Zebrafish
(Danio rerio)
Actinopterygii exoc6b 29 30
  • 73.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006648 29
  • 52.91 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta sec15 29 30
  • 51.8 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sec-15 29 30
  • 50.17 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC15 29 30
  • 41.45 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR251C 29
  • 40.55 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01023g 29
  • 40.05 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SEC15A 29
  • 43.13 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0415200 29
  • 43.15 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3590 30
  • 51 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec15 29
  • 42.23 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00117 29
  • 41.16 (n)
Species where no ortholog for EXOC6B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EXOC6B Gene

ENSEMBL:
Gene Tree for EXOC6B (if available)
TreeFam:
Gene Tree for EXOC6B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXOC6B: view image
Alliance of Genome Resources:
Additional Orthologs for EXOC6B

Paralogs for EXOC6B Gene

Paralogs for EXOC6B Gene

(3) SIMAP similar genes for EXOC6B Gene using alignment to 3 proteins:

  • EXC6B_HUMAN
  • F8W6R7_HUMAN
  • J3QT38_HUMAN
genes like me logo Genes that share paralogs with EXOC6B: view

Variants for EXOC6B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EXOC6B Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1064795104 Likely Pathogenic: not provided 72,498,492(-) A/C
NM_015189.3(EXOC6B):c.1299T>G (p.Tyr433Ter)
NONSENSE,NON_CODING_TRANSCRIPT
rs114450435 Benign: not provided 72,480,655(-) T/A
NM_015189.3(EXOC6B):c.1761A>T (p.Thr587=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON
rs1195320854 Likely Pathogenic: not provided 72,559,509(-) G/A
NM_015189.3(EXOC6B):c.859C>T (p.Gln287Ter)
NONSENSE,NON_CODING_TRANSCRIPT
rs1294100541 Pathogenic: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 72,559,462(-) A/T
NM_015189.3(EXOC6B):c.906T>A (p.Tyr302Ter)
NONSENSE,NON_CODING_TRANSCRIPT
rs143694876 Likely Benign: not provided 72,184,095(-) A/G
NM_015189.3(EXOC6B):c.2289T>C (p.Thr763=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EXOC6B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EXOC6B Gene

Variant ID Type Subtype PubMed ID
esv2425313 CNV deletion 19546169
esv2661385 CNV deletion 23128226
esv2670264 CNV deletion 23128226
esv3591240 CNV loss 21293372
esv3591241 CNV loss 21293372
esv3591244 CNV loss 21293372
esv3591245 CNV loss 21293372
esv3591247 CNV loss 21293372
esv3892659 CNV loss 25118596
nsv2773 CNV deletion 18451855
nsv2774 CNV insertion 18451855
nsv2775 CNV insertion 18451855
nsv477760 CNV novel sequence insertion 20440878
nsv582208 CNV loss 21841781
nsv834257 CNV gain 17160897
nsv834259 CNV gain 17160897
nsv961792 CNV duplication 23825009

Variation tolerance for EXOC6B Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.50; 43.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOC6B Gene

Human Gene Mutation Database (HGMD)
EXOC6B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOC6B
Leiden Open Variation Database (LOVD)
EXOC6B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOC6B Gene

Disorders for EXOC6B Gene

MalaCards: The human disease database

(8) MalaCards diseases for EXOC6B Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EXC6B_HUMAN
  • Spondyloepimetaphyseal dysplasia with joint laxity, 3 (SEMDJL3) [MIM:618395]: An autosomal recessive bone disease characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones. {ECO:0000269 PubMed:26669664, ECO:0000269 PubMed:30284759}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for EXOC6B

genes like me logo Genes that share disorders with EXOC6B: view

No data available for Genatlas for EXOC6B Gene

Publications for EXOC6B Gene

  1. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. (PMID: 26669664) Girisha KM … Kutsche K (European journal of human genetics : EJHG 2016) 3 4 72
  2. The brain exocyst complex interacts with RalA in a GTP-dependent manner: identification of a novel mammalian Sec3 gene and a second Sec15 gene. (PMID: 11406615) Brymora A … Robinson PJ (The Journal of biological chemistry 2001) 2 3 4
  3. 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. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  4. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. (PMID: 30284759) Campos-Xavier B … Superti-Furga A (American journal of medical genetics. Part A 2018) 4 72
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for EXOC6B Gene

Sources for EXOC6B Gene