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

    Gene ID: 90332, updated on 27-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
    mouse all
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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
    • 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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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