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EXOC3L2 exocyst complex component 3 like 2 [ Homo sapiens (human) ]

Gene ID: 90332, updated on 2-Nov-2024

Summary

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Official Symbol
EXOC3L2provided by HGNC
Official Full Name
exocyst complex component 3 like 2provided by HGNC
Primary source
HGNC:HGNC:30162
See related
Ensembl:ENSG00000283632 MIM:616927; AllianceGenome:HGNC:30162
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BMRS; XTP7
Summary
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]
Expression
Broad expression in kidney (RPKM 8.1), spleen (RPKM 4.9) and 17 other tissues See more
Orthologs
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Genomic context

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See EXOC3L2 in Genome Data Viewer
Location:
19q13.32
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45212370..45245407, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48039015..48072079, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45715628..45748665, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372420 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45657908-45658134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45658871-45659588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45663890-45664522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14787 Neighboring gene NTPase KAP family P-loop domain containing 1 Neighboring gene trafficking protein particle complex subunit 6A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45680873-45681816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14789 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45682829-45683329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45683755-45684256 Neighboring gene Sharpr-MPRA regulatory region 2997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10758 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 3 Neighboring gene Sharpr-MPRA regulatory region 12921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45719170-45719704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45720327-45721022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45721023-45721716 Neighboring gene exocyst complex component 3 like 4 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45748359-45749355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45755437-45755993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45767676-45768261 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45768262-45768846 Neighboring gene microtubule affinity regulating kinase 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45794892-45795094 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45811788-45811945 Neighboring gene creatine kinase, M-type

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. Shalata A, et al. J Med Genet, 2019 May. PMID 30327448
  2. EXOC3L2 rs597668 variant contributes to Alzheimer's disease susceptibility in Asian population. Wu QJ, et al. Oncotarget, 2017 Mar 21. PMID 28423615, Free PMC Article
  3. Association between EXOC3L2 rs597668 polymorphism and Alzheimer's disease. Shang H, et al. CNS Neurosci Ther, 2013 Oct. PMID 23663385, Free PMC Article
  4. Lack of association between rs597668 polymorphism near EXOC3L2 and late-onset Alzheimer's disease in Han Chinese. Liu QY, et al. Neurosci Lett, 2012 Apr 4. PMID 22381399
  5. Exocyst complex component 3-like 2 (EXOC3L2) associates with the exocyst complex and mediates directional migration of endothelial cells. Barkefors I, et al. J Biol Chem, 2011 Jul 8. PMID 21566143, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. We propose that biallelic EXOC3L2 mutations lead to a novel syndrome that affects hindbrain development, kidney and possibly the bone marrow.
    Title: Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
  2. EXOC3L2 rs597668 variant is associated with Alzheimer's disease susceptibility.
    Title: EXOC3L2 rs597668 variant contributes to Alzheimer's disease susceptibility in Asian population.
  3. This meta-analysis assesses an association between rs597668 polymorphism in EXOC3L2 and Alzheimer's disease.
    Title: Association between EXOC3L2 rs597668 polymorphism and Alzheimer's disease.
  4. This study suggests that the rs597668 polymorphism near EXOC3L2 may not play a major role in the susceptibility to late-onset Alzheimer's disease in the Northern Han Chinese population.
    Title: Lack of association between rs597668 polymorphism near EXOC3L2 and late-onset Alzheimer's disease in Han Chinese.
  5. exoc3l2 silencing inhibits VEGF receptor 2 phosphorylation and VEGFA-directed migration of cultured endothelial cells.
    Title: Exocyst complex component 3-like 2 (EXOC3L2) associates with the exocyst complex and mediates directional migration of endothelial cells.
  6. Observational study, meta-analysis, and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Genome-wide analysis of genetic loci associated with Alzheimer disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
EBI GWAS Catalog
New gene functions in megakaryopoiesis and platelet formation.
EBI GWAS Catalog
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ36147, MGC16332

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
part_of exocyst IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
exocyst complex component 3-like protein 2
Names
HBV X-transactivated gene 7 protein
HBV XAg-transactivated protein 7
protein 7 transactivated by hepatitis B virus X antigen (HBxAg)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054912.2 RefSeqGene

    Range
    5001..38038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001382422.1 → NP_001369351.1  exocyst complex component 3-like protein 2

    Status: REVIEWED

    Source sequence(s)
    AC006126
    Consensus CDS
    CCDS92642.1
    UniProtKB/TrEMBL
    A0A1C7CYX0
    Related
    ENSP00000400713.2, ENST00000413988.3
    Conserved Domains (1) summary
    cl19885
    Location:226 → 756
    Sec6; Exocyst complex component Sec6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    45212370..45245407 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    48039015..48072079 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138568.4: Suppressed sequence

    Description
    NM_138568.4: This RefSeq was removed because the CDS was partial.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2M3D2.1 GenPept UniProtKB/Swiss-Prot:Q2M3D2

Gene LinkOut

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