The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017] See more...

Aliases for EXOC3L2 Gene

Aliases for EXOC3L2 Gene

  • Exocyst Complex Component 3 Like 2 2 3 5
  • XTP7 2 3 4
  • Exocyst Complex Component 3-Like Protein 2 3 4
  • HBV X-Transactivated Gene 7 Protein 3 4
  • HBV XAg-Transactivated Protein 7 3 4
  • Protein 7 Transactivated By Hepatitis B Virus X Antigen (HBxAg) 3
  • FLJ36147 2
  • EXOC3L2 5

External Ids for EXOC3L2 Gene

Previous GeneCards Identifiers for EXOC3L2 Gene

  • GC19M050408
  • GC19M045715
  • GC19M042147

Summaries for EXOC3L2 Gene

Entrez Gene Summary for EXOC3L2 Gene

  • The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017]

GeneCards Summary for EXOC3L2 Gene

EXOC3L2 (Exocyst Complex Component 3 Like 2) is a Protein Coding gene. Diseases associated with EXOC3L2 include Alzheimer Disease 4 and Alzheimer's Disease 1. Gene Ontology (GO) annotations related to this gene include SNARE binding. An important paralog of this gene is EXOC3L4.

Additional gene information for EXOC3L2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EXOC3L2 Gene

Genomics for EXOC3L2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EXOC3L2 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
GH19J045244 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 85 1.5 LEF1 IKZF1 JUND PKNOX1 DPF2 HDAC1 SOX6 MGA TARDBP POLR2A EXOC3L2 lnc-TRAPPC6A-3 MARK4 LOC100420902 TRAPPC6A
GH19J045231 Promoter/Enhancer 0.7 EPDnew Ensembl ENCODE 600.4 +13.3 13347 1.2 EXOC3L2 CKM ERCC2 POLR1G PPP1R13L RELB CLASRP LOC100420902 lnc-BLOC1S3-1 TRAPPC6A
GH19J045583 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5 -339.1 -339117 2.7 BRCA1 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 RFX1 NFKBIZ OPA3 lnc-VASP-1 piR-57461-112 DMPK IRF2BP1 EXOC3L2 GPR4 VASP
GH19J045306 Enhancer 1 Ensembl ENCODE dbSUPER 11 -61.2 -61234 2.1 PKNOX1 PBX2 SCRT2 SP2 ZBTB10 ZEB1 POLR2A SCRT1 NFIC ZFHX2 HSALNG0126543 lnc-ERCC2-2 MARK4 ZNF180 CEACAM19 EXOC3L2 POLR1G PPP1R13L SNRPD2 CLASRP
GH19J045311 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.5 -66.4 -66390 0.4 GATAD2A GABPA MNT CREB1 GABPB1 ZGPAT CREM THAP11 MBD1 ZHX2 KLC3 RPS16P9 EXOC3L2 MARK4 POLR1G PPP1R13L RF00017-3004 lnc-ERCC2-2 CKM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXOC3L2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EXOC3L2

Top Transcription factor binding sites by QIAGEN in the EXOC3L2 gene promoter:
  • Egr-1
  • IRF-7A
  • LyF-1
  • Meis-1
  • Meis-1b
  • NRF-2
  • SEF-1 (1)
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for EXOC3L2 Gene

Genomic Locations for EXOC3L2 Gene
chr19:45,212,370-45,245,431
(GRCh38/hg38)
Size:
33,062 bases
Orientation:
Minus strand
chr19:45,715,879-45,737,469
(GRCh37/hg19)
Size:
21,591 bases
Orientation:
Minus strand

Genomic View for EXOC3L2 Gene

Genes around EXOC3L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOC3L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOC3L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOC3L2 Gene

Proteins for EXOC3L2 Gene

  • Protein details for EXOC3L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M3D2-EX3L2_HUMAN
    Recommended name:
    Exocyst complex component 3-like protein 2
    Protein Accession:
    Q2M3D2
    Secondary Accessions:
    • Q8N9W2
    • Q96GV2

    Protein attributes for EXOC3L2 Gene

    Size:
    409 amino acids
    Molecular mass:
    45859 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EXOC3L2 Gene

Post-translational modifications for EXOC3L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EXOC3L2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EXOC3L2 Gene

Domains & Families for EXOC3L2 Gene

Gene Families for EXOC3L2 Gene

Protein Domains for EXOC3L2 Gene

InterPro:
Blocks:
  • Exocyst complex component Sec6
ProtoNet:

Suggested Antigen Peptide Sequences for EXOC3L2 Gene

GenScript: Design optimal peptide antigens:
  • HBV XAg-transactivated protein 7 (EX3L2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M3D2

UniProtKB/Swiss-Prot:

EX3L2_HUMAN :
  • Belongs to the SEC6 family.
Family:
  • Belongs to the SEC6 family.
genes like me logo Genes that share domains with EXOC3L2: view

Function for EXOC3L2 Gene

Phenotypes From GWAS Catalog for EXOC3L2 Gene

Gene Ontology (GO) - Molecular Function for EXOC3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA 21873635
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with EXOC3L2: view
genes like me logo Genes that share phenotypes with EXOC3L2: view

Animal Models for EXOC3L2 Gene

MGI Knock Outs for EXOC3L2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC3L2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for EXOC3L2 Gene

Localization for EXOC3L2 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 EXOC3L2 gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXOC3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst IEA,IBA 21873635
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with EXOC3L2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EXOC3L2 Gene

Pathways & Interactions for EXOC3L2 Gene

PathCards logo

SuperPathways for EXOC3L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EXOC3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA,IBA 21873635
GO:0008150 biological_process ND --
GO:0051601 exocyst localization IBA 21873635
genes like me logo Genes that share ontologies with EXOC3L2: view

No data available for Pathways by source and SIGNOR curated interactions for EXOC3L2 Gene

Drugs & Compounds for EXOC3L2 Gene

No Compound Related Data Available

Transcripts for EXOC3L2 Gene

mRNA/cDNA for EXOC3L2 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 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 EXOC3L2

Alternative Splicing Database (ASD) splice patterns (SP) for EXOC3L2 Gene

No ASD Table

Relevant External Links for EXOC3L2 Gene

GeneLoc Exon Structure for
EXOC3L2

Expression for EXOC3L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EXOC3L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EXOC3L2 Gene

This gene is overexpressed in Kidney - Cortex (x7.0) and Thyroid (x5.9).

Protein differential expression in normal tissues from HIPED for EXOC3L2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (38.7), Adrenal (11.6), and Plasma (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXOC3L2 Gene



Protein tissue co-expression partners for EXOC3L2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EXOC3L2

SOURCE GeneReport for Unigene cluster for EXOC3L2 Gene:

Hs.337557

Evidence on tissue expression from TISSUES for EXOC3L2 Gene

  • Lung(4.2)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with EXOC3L2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXOC3L2 Gene

Orthologs for EXOC3L2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EXOC3L2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EXOC3L2 30
  • 99.76 (n)
Dog
(Canis familiaris)
Mammalia EXOC3L2 30
  • 90.08 (n)
Cow
(Bos Taurus)
Mammalia EXOC3L2 30
  • 88.98 (n)
Rat
(Rattus norvegicus)
Mammalia Exoc3l2 30
  • 83.94 (n)
Mouse
(Mus musculus)
Mammalia Exoc3l2 30 17
  • 83.54 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486119 30
  • 50.48 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC565839 30
  • 54.4 (n)
Species where no ortholog for EXOC3L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for EXOC3L2 Gene

ENSEMBL:
Gene Tree for EXOC3L2 (if available)
TreeFam:
Gene Tree for EXOC3L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXOC3L2: view image

Paralogs for EXOC3L2 Gene

Paralogs for EXOC3L2 Gene

genes like me logo Genes that share paralogs with EXOC3L2: view

Variants for EXOC3L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EXOC3L2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
916243 Likely Benign: not provided 45,213,099(-) C/T SYNONYMOUS_VARIANT
rs886039793 Likely Pathogenic: Meckel-Gruber syndrome 45,227,667(-) T/TG
rs10411314 - p.Asn173Asp

Additional dbSNP identifiers (rs#s) for EXOC3L2 Gene

Structural Variations from Database of Genomic Variants (DGV) for EXOC3L2 Gene

Variant ID Type Subtype PubMed ID
esv23015 CNV gain 19812545
esv2422482 CNV duplication 17116639
esv2678049 CNV deletion 23128226
esv3583434 CNV loss 25503493
esv3644501 CNV loss 21293372
nsv833843 CNV loss 17160897
nsv833844 CNV loss 17160897
nsv960854 CNV duplication 23825009

Variation tolerance for EXOC3L2 Gene

Residual Variation Intolerance Score: 88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.52; 71.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOC3L2 Gene

Human Gene Mutation Database (HGMD)
EXOC3L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOC3L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOC3L2 Gene

Disorders for EXOC3L2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EXOC3L2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease 4
  • ad4
alzheimer's disease 1
  • alzheimer's disease 1, early onset
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EXOC3L2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with EXOC3L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXOC3L2 Gene

Publications for EXOC3L2 Gene

  1. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 41
  2. Exocyst complex component 3-like 2 (EXOC3L2) associates with the exocyst complex and mediates directional migration of endothelial cells. (PMID: 21566143) Barkefors I … Kreuger J (The Journal of biological chemistry 2011) 2 3
  3. Genome-wide analysis of genetic loci associated with Alzheimer disease. (PMID: 20460622) Seshadri S … EADI1 Consortium (JAMA 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for EXOC3L2 Gene

Sources for EXOC3L2 Gene