Aliases for EXOC3L2 Gene
Aliases for EXOC3L2 Gene
External Ids for EXOC3L2 Gene
- HGNC: 30162
- Entrez Gene: 90332
- Ensembl: ENSG00000283632
- OMIM: 616927
- UniProtKB: Q2M3D2
Previous GeneCards Identifiers for EXOC3L2 Gene
- GC19M050408
- GC19M045715
- GC19M042147
Summaries 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXOC3L2 Gene
Genomics for EXOC3L2 Gene
GeneHancer (GH) Regulatory Elements for EXOC3L2 Gene
Promoters and enhancers for EXOC3L2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around EXOC3L2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for EXOC3L2 Gene
Genes around EXOC3L2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.32 by Ensembl
- 19q13.32 by Entrez Gene
- 19q13.32 by HGNC
EXOC3L2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q8N9W2
- Q96GV2
Protein attributes for EXOC3L2 Gene
- Size:
- 409 amino acids
- Molecular mass:
- 45859 Da
- Quaternary structure:
- No Data Available
Protein Expression for EXOC3L2 Gene
Post-translational modifications for EXOC3L2 Gene
Other Protein References for EXOC3L2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for EXOC3L2
- Invitrogen Antibodies for EXOC3L2
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-
Santa Cruz Biotechnology (SCBT) Antibodies for EXOC3L2
Protein Products
-
OriGene Purified Proteins for EXOC3L2
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- Search GeneTex for Proteins for EXOC3L2
Assay Products
No data available for DME Specific Peptides for EXOC3L2 Gene
Domains & Families for EXOC3L2 Gene
Gene Families for EXOC3L2 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for EXOC3L2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for EXOC3L2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q2M3D2- Family:
-
- Belongs to the SEC6 family.
Function for EXOC3L2 Gene
Phenotypes From GWAS Catalog for EXOC3L2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000149 | SNARE binding | IBA | -- |
| GO:0003674 | molecular_function | ND | -- |
Phenotypes for EXOC3L2 Gene
- MGI mutant phenotypes for EXOC3L2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for EXOC3L2:
Animal Models for EXOC3L2 Gene
Animal Model Products
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-
-
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-
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CRISPR Products
-
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Vectors and viruses for KO, Activation, Repression, and more
-
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Inhibitory RNA Products
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-
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available EXOC3L2 gene related products
- orf clones - Search results for available EXOC3L2 gene related products
- Applied Biological Materials Clones for EXOC3L2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for EXOC3L2
-
ViGene Biosciences adenoviral particle packaged cDNA for EXOC3L2 gene
-
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-
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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
| Compartment | Confidence |
|---|---|
| nucleus | 2 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000145 | exocyst | IBA | -- |
| GO:0005575 | cellular_component | ND | -- |
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
No Data Available
Interacting Proteins for EXOC3L2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006887 | exocytosis | IBA | -- |
| GO:0008150 | biological_process | ND | -- |
| GO:0051601 | exocyst localization | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for EXOC3L2 Gene
Transcripts for EXOC3L2 Gene
mRNA/cDNA for EXOC3L2 Gene
- (1) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (13) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for EXOC3L2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EXOC3L2
- genomics-online: gRNA clones - Search results for available EXOC3L2 gene related products
- Applied Biological Materials CRISPR for EXOC3L2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EXOC3L2
- GenScript: Design CRISPR guide RNA sequences for EXOC3L2
miRNA Products
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Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for available EXOC3L2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EXOC3L2 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for EXOC3L2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EXOC3L2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available EXOC3L2 gene related products
- orf clones - Search results for available EXOC3L2 gene related products
- Applied Biological Materials Clones for EXOC3L2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for EXOC3L2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Testis (Reproductive System)
-
Kidney (Urinary System)
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).
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, PaxDb, MaxQB, and MOPED for EXOC3L2 Gene
NURSA nuclear receptor signaling pathways regulating expression of EXOC3L2 Gene:
EXOC3L2SOURCE GeneReport for Unigene cluster for EXOC3L2 Gene:
Hs.337557Evidence on tissue expression from TISSUES for EXOC3L2 Gene
- Lung(4.2)
Primer Products
-
OriGene qPCR primer pairs for EXOC3L2
- genomics-online: primer clones - Search results for available EXOC3L2 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EXOC3L2 33 |
|
||
| dog (Canis familiaris) |
Mammalia | EXOC3L2 33 |
|
||
| cow (Bos Taurus) |
Mammalia | EXOC3L2 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Exoc3l2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Exoc3l2 33 16 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100486119 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC565839 33 |
|
- 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)
Paralogs for EXOC3L2 Gene
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOC3L2 Gene
Disorders for EXOC3L2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alzheimer disease |
|
|
Search EXOC3L2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for EXOC3L2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for EXOC3L2 Gene
Publications for EXOC3L2 Gene
- 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 58
- New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 44 58
- Genome-wide analysis of genetic loci associated with Alzheimer disease. (PMID: 20460622) Seshadri S … EADI1 Consortium (JAMA 2010) 3 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- EXOC3L2 rs597668 variant contributes to Alzheimer's disease susceptibility in Asian population. (PMID: 28423615) Wu QJ … Fang TK (Oncotarget 2017) 3 58
Products for EXOC3L2 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneTex for Antibodies for EXOC3L2
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Sources for EXOC3L2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems