EXOC3L2 Gene (Protein Coding)

Exocyst Complex Component 3 Like 2

GC19M045212
GIFtS:
34
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
  • Exocyst Complex Component 3-Like Protein 2 3 4
  • HBV X-Transactivated Gene 7 Protein 3 4
  • HBV XAg-Transactivated Protein 7 3 4
  • XTP7 3 4
  • Protein 7 Transactivated By Hepatitis B Virus X Antigen (HBxAg) 3

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. Gene Ontology (GO) annotations related to this gene include SNARE binding. An important paralog of this gene is EXOC3L1.

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 for EXOC3L2 Gene

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 750.6 +0.1 85 1.5 L3MBTL2 TEAD4 ZFX MLLT1 CBFA2T2 SMARCA4 SP5 EGR1 IKZF1 DPF2 EXOC3L2 lnc-TRAPPC6A-3 MARK4 LOC100420902
GH19J045231 Promoter/Enhancer 0.7 EPDnew Ensembl ENCODE 750.4 +13.3 13347 1.2 EXOC3L2 CKM ERCC2 CD3EAP PPP1R13L RELB CLASRP LOC100420902 lnc-BLOC1S3-1 MARK4
GH19J045583 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5 -339.1 -339117 2.7 SIN3A SP1 ZBTB40 ZBTB6 MLX RBPJ POLR2A TCF7L2 CEBPZ USF2 OPA3 lnc-VASP-1 piR-57461-112 CCDC61 ENSG00000268810 SYMPK CLASRP PNMA8B MYPOP FBXO46
GH19J045306 Enhancer 1 Ensembl ENCODE dbSUPER 11 -61.2 -61234 2.1 NFYC ZNF652 SP1 PKNOX1 RXRA SP2 POLR2A SCRT2 ZBTB10 SCRT1 HSALNG0126543 lnc-ERCC2-2 MARK4 EXOC3L2 CD3EAP PPP1R13L CLASRP RELB CKM
GH19J045311 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.5 -66.4 -66390 0.4 CREB1 KAT8 GATAD2A MNT GABPA CREM ZGPAT MBD1 THAP11 ZHX2 KLC3 RPS16P9 EXOC3L2 MARK4 PPP1R13L CD3EAP RF00017-3002 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 UCSC Golden Path with GeneCards custom track

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
chr19:45,212,621-45,245,431
(GRCh38/hg38)
Size:
32,811 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 Structure • Gene Density

RefSeq DNA sequence for EXOC3L2 Gene

Proteins for EXOC3L2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for EXOC3L2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EXOC3L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EXOC3L2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for EXOC3L2

No data available for DME Specific Peptides for EXOC3L2 Gene

Domains & Families for EXOC3L2 Gene

Gene Families for EXOC3L2 Gene

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

Protein Domains for EXOC3L2 Gene

Blocks:
InterPro:
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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Gene Ontology (GO) - Cellular Components for EXOC3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst 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 and Subcellular locations from the Human Protein Atlas (HPA) 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 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for EXOC3L2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EXOC3L2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(2) 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
ECgene alternative splicing isoforms for
EXOC3L2

Expression for EXOC3L2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for EXOC3L2 Gene
mRNA expression by GTEx for EXOC3L2 GenemRNA expression by BioGPS 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

NURSA nuclear receptor signaling pathways regulating expression of EXOC3L2 Gene:

EXOC3L2

SOURCE GeneReport for Unigene cluster for EXOC3L2 Gene:

Hs.337557

Evidence on tissue expression from TISSUES for EXOC3L2 Gene

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

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 32
  • 99.76 (n)
dog
(Canis familiaris)
 Mammalia EXOC3L2 32
  • 90.08 (n)
cow
(Bos Taurus)
 Mammalia EXOC3L2 32
  • 88.98 (n)
rat
(Rattus norvegicus)
 Mammalia Exoc3l2 32
  • 83.94 (n)
mouse
(Mus musculus)
 Mammalia Exoc3l2 17 32
  • 83.54 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100486119 32
  • 50.48 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC565839 32
  • 54.4 (n)
Species where no ortholog for EXOC3L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for EXOC3L2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs886039793 likely-pathogenic, Meckel-Gruber syndrome 45,227,668(-) GGGGGG/GGGGGGG coding_sequence_variant, frameshift
rs1000026004 -- 45,216,897(-) C/T intron_variant
rs1000424724 -- 45,225,835(-) C/T intron_variant
rs1000471139 -- 45,214,653(-) C/T intron_variant
rs1000511579 -- 45,231,173(-) C/T intron_variant

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

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

Disorder Aliases PubMed IDs
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
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 43 56
  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 56
  3. Genome-wide analysis of genetic loci associated with Alzheimer disease. (PMID: 20460622) Seshadri S … EADI1 Consortium (JAMA 2010) 3 43 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. (PMID: 29656893) Gupta R … Choudhary C (Cell 2018) 3 56

ExternalLinks

View latest publications for EXOC3L2 gene in Mastermind

Products for EXOC3L2 Gene

Sources for EXOC3L2 Gene