The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of ... See more...

Aliases for EXOC4 Gene

Aliases for EXOC4 Gene

  • Exocyst Complex Component 4 2 3 4 5
  • Exocyst Complex Component Sec8 3 4
  • SEC8L1 3 4
  • SEC8 3 4
  • SEC8-Like 1 (S. Cerevisiae) 2
  • SEC8-Like 1 3
  • KIAA1699 4
  • Sec8p 3

External Ids for EXOC4 Gene

Previous HGNC Symbols for EXOC4 Gene

  • SEC8L1

Previous GeneCards Identifiers for EXOC4 Gene

  • GC07P132396
  • GC07P132588
  • GC07P132937
  • GC07P127253

Summaries for EXOC4 Gene

Entrez Gene Summary for EXOC4 Gene

  • The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for EXOC4 Gene

EXOC4 (Exocyst Complex Component 4) is a Protein Coding gene. Diseases associated with EXOC4 include Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency and Meckel Syndrome, Type 1. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Translocation of GLUT4 to the plasma membrane. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and Ral GTPase binding.

UniProtKB/Swiss-Prot Summary for EXOC4 Gene

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

Gene Wiki entry for EXOC4 Gene

Additional gene information for EXOC4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EXOC4 Gene

Genomics for EXOC4 Gene

GeneHancer (GH) Regulatory Elements for EXOC4 Gene

Promoters and enhancers for EXOC4 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
GH07J133252 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 514.8 +1.1 1134 3.6 ZBTB40 ZNF217 TCF12 SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 SIX5 EXOC4 ENSG00000237821 LRGUK MIR6133
GH07J133080 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 -171.9 -171852 3.2 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A NRF1 USF1 POLR2G SP1 PHF8 CHCHD3 RNU6-92P RF00026-1038 ENSG00000237821 EXOC4 LOC729998
GH07J133934 Enhancer 1 Ensembl ENCODE 18.9 +681.1 681134 4.8 EP300 ZSCAN5C FOS ZNF639 ZNF10 ZEB1 OSR2 BCL11A KLF9 WT1 EXOC4 piR-38537-054 piR-56883-180
GH07J133852 Enhancer 0.9 Ensembl ENCODE 15.4 +599.2 599196 5.7 ZNF217 EP300 CTCF JUND FOS ZNF10 REST CUX1 TRIM22 MXI1 EXOC4 piR-57801-023 RF00017-6650
GH07J133492 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.7 +239.4 239434 1.8 ZSCAN5C RBAK JUND ZNF639 ZNF10 ZNF354C ZBTB10 ZNF623 ZNF423 ZNF510 LRGUK SLC35B4 EXOC4 ENSG00000231098 RF00005-165 lnc-CHCHD3-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXOC4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EXOC4

Top Transcription factor binding sites by QIAGEN in the EXOC4 gene promoter:
  • FOXL1
  • IRF-7A
  • NF-1
  • NF-1/L
  • POU2F1
  • POU2F1a
  • S8
  • TBP

Genomic Locations for EXOC4 Gene

Genomic Locations for EXOC4 Gene
chr7:133,253,067-134,066,589
(GRCh38/hg38)
Size:
813,523 bases
Orientation:
Plus strand
chr7:132,937,823-133,751,342
(GRCh37/hg19)
Size:
813,520 bases
Orientation:
Plus strand

Genomic View for EXOC4 Gene

Genes around EXOC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOC4 Gene

Proteins for EXOC4 Gene

  • Protein details for EXOC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A65-EXOC4_HUMAN
    Recommended name:
    Exocyst complex component 4
    Protein Accession:
    Q96A65
    Secondary Accessions:
    • E9PED2
    • Q541U8
    • Q9C0G4
    • Q9H9K0
    • Q9P102

    Protein attributes for EXOC4 Gene

    Size:
    974 amino acids
    Molecular mass:
    110498 Da
    Quaternary structure:
    • The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8 (By similarity). Interacts with BIRC6/bruce. Interacts with MYRIP (By similarity). Interacts with SH3BP1; required for the localization of both SH3BP1 and the exocyst to the leading edge of migrating cells (PubMed:21658605).

    Alternative splice isoforms for EXOC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXOC4 Gene

Post-translational modifications for EXOC4 Gene

  • Ubiquitination at Lys9, Lys223, Lys240, and Lys486
  • Modification sites at PhosphoSitePlus

Other Protein References for EXOC4 Gene

No data available for DME Specific Peptides for EXOC4 Gene

Domains & Families for EXOC4 Gene

Gene Families for EXOC4 Gene

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

Protein Domains for EXOC4 Gene

Blocks:
  • ATP-dependent helicase, DEAH-box
  • Sec8 exocyst complex component specific domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EXOC4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53330, highly similar to Exocyst complex component 4 (B7Z321_HUMAN)
  • cDNA FLJ61133, highly similar to Exocyst complex component 4 (B7Z4J9_HUMAN)
  • Exocyst complex component Sec8 (EXOC4_HUMAN)
  • Exocyst complex component 4 (Q6NX51_HUMAN)
  • EXOC4 protein (Q6PJ82_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96A65

UniProtKB/Swiss-Prot:

EXOC4_HUMAN :
  • Belongs to the SEC8 family.
Family:
  • Belongs to the SEC8 family.
genes like me logo Genes that share domains with EXOC4: view

Function for EXOC4 Gene

Molecular function for EXOC4 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 EXOC4 Gene

Gene Ontology (GO) - Molecular Function for EXOC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17043677
GO:0017160 Ral GTPase binding IPI 24056301
GO:0030165 PDZ domain binding IEA --
GO:0047485 protein N-terminus binding IPI 18480549
genes like me logo Genes that share ontologies with EXOC4: view
genes like me logo Genes that share phenotypes with EXOC4: view

Animal Model Products

CRISPR Products

miRNA for EXOC4 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC4

Clone Products

  • Addgene plasmids for EXOC4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EXOC4 Gene

Localization for EXOC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOC4 Gene

Midbody, Midbody ring. Cell projection. Note=Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214). Localizes at the leading edge of migrating cells (By similarity). {ECO:0000250 UniProtKB:Q62824, ECO:0000269 PubMed:16213214}.

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 EXOC4 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 4
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
extracellular 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXOC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst IBA 21873635
GO:0005623 cell IEA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with EXOC4: view

Pathways & Interactions for EXOC4 Gene

genes like me logo Genes that share pathways with EXOC4: view

Pathways by source for EXOC4 Gene

2 Qiagen pathways for EXOC4 Gene
  • CDC42 Pathway
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for EXOC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006612 protein targeting to membrane IBA 21873635
GO:0006887 exocytosis IBA 21873635
GO:0006893 Golgi to plasma membrane transport IBA 21873635
GO:0006904 vesicle docking involved in exocytosis IEA --
GO:0007268 chemical synaptic transmission IBA 21873635
genes like me logo Genes that share ontologies with EXOC4: view

No data available for SIGNOR curated interactions for EXOC4 Gene

Drugs & Compounds for EXOC4 Gene

No Compound Related Data Available

Transcripts for EXOC4 Gene

mRNA/cDNA for EXOC4 Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC4

Clone Products

  • Addgene plasmids for EXOC4

Alternative Splicing Database (ASD) splice patterns (SP) for EXOC4 Gene

No ASD Table

Relevant External Links for EXOC4 Gene

GeneLoc Exon Structure for
EXOC4

Expression for EXOC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EXOC4 Gene

Protein differential expression in normal tissues from HIPED for EXOC4 Gene

This gene is overexpressed in Bone (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXOC4 Gene



Protein tissue co-expression partners for EXOC4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EXOC4

SOURCE GeneReport for Unigene cluster for EXOC4 Gene:

Hs.321273

Evidence on tissue expression from TISSUES for EXOC4 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Muscle(4.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with EXOC4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXOC4 Gene

Orthologs for EXOC4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EXOC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXOC4 31 30
  • 99.62 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXOC4 31
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXOC4 31 30
  • 91.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EXOC4 31 30
  • 91.1 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Exoc4 30
  • 89.36 (n)
mouse
(Mus musculus)
Mammalia Exoc4 17 31 30
  • 89.19 (n)
chicken
(Gallus gallus)
Aves EXOC4 31 30
  • 80.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 88 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia exoc4 30
  • 76.59 (n)
zebrafish
(Danio rerio)
Actinopterygii exoc4 31 30
  • 72.83 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sec8 31 30
  • 49.52 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001694 30
  • 49.17 (n)
worm
(Caenorhabditis elegans)
Secernentea sec-8 31 30
  • 44.71 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC8 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for EXOC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EXOC4 Gene

ENSEMBL:
Gene Tree for EXOC4 (if available)
TreeFam:
Gene Tree for EXOC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXOC4: view image

Paralogs for EXOC4 Gene

No data available for Paralogs for EXOC4 Gene

Variants for EXOC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EXOC4 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs730882233 Likely Pathogenic: Meckel-Gruber syndrome 133,817,543(+) A/G MISSENSE_VARIANT
rs768209201 A colorectal cancer sample p.Ala599Thr
VAR_036292 A colorectal cancer sample p.Ser220Phe

Additional dbSNP identifiers (rs#s) for EXOC4 Gene

Structural Variations from Database of Genomic Variants (DGV) for EXOC4 Gene

Variant ID Type Subtype PubMed ID
dgv237n6 CNV deletion 16902084
dgv3668n106 CNV deletion 24896259
dgv3669n106 CNV deletion 24896259
dgv6622n100 CNV loss 25217958
dgv6623n100 CNV loss 25217958
dgv6624n100 CNV loss 25217958
esv1009705 CNV deletion 20482838
esv1010219 CNV insertion 20482838
esv1081495 CNV deletion 17803354
esv1677306 CNV insertion 17803354
esv2121190 CNV deletion 18987734
esv2244756 CNV deletion 18987734
esv2473150 CNV insertion 19546169
esv2491664 CNV deletion 19546169
esv2567326 CNV deletion 19546169
esv2657515 CNV deletion 23128226
esv2662196 CNV deletion 23128226
esv2663117 CNV deletion 23128226
esv2663337 CNV deletion 23128226
esv2669987 CNV deletion 23128226
esv2676200 CNV deletion 23128226
esv2735172 CNV deletion 23290073
esv2735174 CNV deletion 23290073
esv2735175 CNV deletion 23290073
esv2759565 CNV gain 17122850
esv2764007 CNV loss 21179565
esv3361602 CNV insertion 20981092
esv3428337 CNV insertion 20981092
esv3443112 CNV insertion 20981092
esv3446426 CNV insertion 20981092
esv3542451 CNV deletion 23714750
esv3542452 CNV deletion 23714750
esv3542458 CNV deletion 23714750
esv3572146 CNV loss 25503493
esv3572147 CNV loss 25503493
esv3572150 CNV loss 25503493
esv3615067 CNV loss 21293372
esv3615068 CNV loss 21293372
esv3615069 CNV loss 21293372
esv3615072 CNV loss 21293372
esv3615073 CNV loss 21293372
esv3615074 CNV loss 21293372
esv3615076 CNV loss 21293372
esv3615077 CNV gain 21293372
esv3615078 CNV loss 21293372
esv3615081 CNV loss 21293372
esv3615082 CNV gain 21293372
esv3615083 CNV gain 21293372
esv3615084 CNV gain 21293372
esv3615085 CNV loss 21293372
esv3615086 CNV loss 21293372
esv3615087 CNV loss 21293372
esv3615088 CNV loss 21293372
esv5070 CNV loss 18987735
esv9349 CNV loss 19470904
esv999690 CNV deletion 20482838
nsv1018425 CNV loss 25217958
nsv1020759 CNV gain 25217958
nsv1020795 CNV loss 25217958
nsv1028914 CNV loss 25217958
nsv1031721 CNV loss 25217958
nsv1032205 CNV gain 25217958
nsv1033168 CNV loss 25217958
nsv1034741 CNV loss 25217958
nsv1075998 CNV deletion 25765185
nsv1132087 CNV deletion 24896259
nsv1147242 CNV insertion 26484159
nsv1152760 CNV duplication 26484159
nsv1153540 CNV deletion 26484159
nsv366574 CNV deletion 16902084
nsv428186 CNV gain 18775914
nsv464725 CNV loss 19166990
nsv470393 CNV gain 18288195
nsv473486 CNV novel sequence insertion 20440878
nsv474551 CNV novel sequence insertion 20440878
nsv521054 CNV loss 19592680
nsv525065 CNV loss 19592680
nsv528972 CNV loss 19592680
nsv5955 CNV deletion 18451855
nsv5956 CNV insertion 18451855
nsv608440 CNV loss 21841781
nsv608441 CNV loss 21841781
nsv608442 CNV gain 21841781
nsv608443 CNV loss 21841781
nsv608444 CNV gain 21841781
nsv831143 CNV gain 17160897
nsv831144 CNV loss 17160897
nsv957579 CNV deletion 24416366
nsv970942 CNV duplication 23825009

Variation tolerance for EXOC4 Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.76; 46.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOC4 Gene

Human Gene Mutation Database (HGMD)
EXOC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOC4 Gene

Disorders for EXOC4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EXOC4 Gene - From: DISEASES

Additional Disease Information for EXOC4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EXOC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXOC4 Gene

Publications for EXOC4 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 54
  2. SH3BP1, an exocyst-associated RhoGAP, inactivates Rac1 at the front to drive cell motility. (PMID: 21658605) Parrini MC … Camonis J (Molecular cell 2011) 3 4 54
  3. Screening for replication of genome-wide SNP associations in sporadic ALS. (PMID: 18987618) Cronin S … Hardiman O (European journal of human genetics : EJHG 2009) 3 41 54
  4. Final stages of cytokinesis and midbody ring formation are controlled by BRUCE. (PMID: 18329369) Pohl C … Jentsch S (Cell 2008) 3 4 54
  5. Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; the NHLBI Family Heart Study. (PMID: 18498660) Laramie JM … Myers RH (BMC medical genetics 2008) 3 41 54

Products for EXOC4 Gene

Sources for EXOC4 Gene