Gene Symbol: EXOC3L2
Description: exocyst complex component 3 like 2
Alias: XTP7, exocyst complex component 3-like protein 2, HBV X-transactivated gene 7 protein, HBV XAg-transactivated protein 7, protein 7 transactivated by hepatitis B virus X antigen (HBxAg)
Species: human
Products:     EXOC3L2

Top Publications

  1. Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, et al. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. J Med Genet. 2019;56:340-346 pubmed publisher
    ..subjects from two unrelated families with homozygous mutations in the Exocyst Complex Component 3-Like-2 gene (EXOC3L2).EXOC3L2 functions in trafficking of post-Golgi vesicles to the plasma membrane...
  2. Naj A, Jun G, Beecham G, Wang L, Vardarajan B, Buros J, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet. 2011;43:436-41 pubmed publisher
    ..9 × 10(-8)), BIN1 (rs7561528; P(M) = 4.0 × 10(-14), P(J) = 5.2 × 10(-14)) and PICALM (rs561655; P(M) = 7.0 × 10(-11), P(J) = 1.0 × 10(-10)), but not at EXOC3L2, to late-onset Alzheimer's disease susceptibility.
  3. Dayeh T, Volkov P, Salö S, Hall E, Nilsson E, Olsson A, et al. Genome-wide DNA methylation analysis of human pancreatic islets from type 2 diabetic and non-diabetic donors identifies candidate genes that influence insulin secretion. PLoS Genet. 2014;10:e1004160 pubmed publisher
    ..102 of the differentially methylated genes, including CDKN1A, PDE7B, SEPT9 and EXOC3L2, were differentially expressed in T2D islets...
  4. Nizamutdinov I, Andreeva T, Stepanov V, Marusin A, Rogaev E, Zasedatelev A, et al. [Biochip for determination of genetic markers of sporadic Alzheimer's disease in the Russian Slavic population]. Mol Biol (Mosk). 2013;47:949-58 pubmed
    ..The biochip allows determina- tion of ten genetic polymorphisms within APOE, TOMM40, APOJ, EXOC3L2, GAB2, A2M, CR1, BIN1 and PICALM genes...
  5. Nettiksimmons J, TRANAH G, Evans D, Yokoyama J, Yaffe K. Gene-based aggregate SNP associations between candidate AD genes and cognitive decline. Age (Dordr). 2016;38:41 pubmed publisher
    ..polymorphisms (SNPs) in and near ABCA7, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, complement receptor 1 (CR1), EPHA1, EXOC3L2, FERMT2, HLA cluster (DRB5-DQA), INPP5D, MEF2C, MS4A cluster (MS4A3-MS4A6E), NME8, PICALM, PTK2B, SLC24A4, SORL1, ..
  6. Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, et al. Characterizing the morbid genome of ciliopathies. Genome Biol. 2016;17:242 pubmed
    ..Our study also highlighted seven novel candidate genes (TRAPPC3, EXOC3L2, FAM98C, C17orf61, LRRCC1, NEK4, and CELSR2) some of which have established links to ciliogenesis...
  7. Pérez Palma E, Bustos B, Villamán C, Alarcón M, Avila M, Ugarte G, et al. Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. PLoS ONE. 2014;9:e95413 pubmed publisher
  8. Wu Q, Sun S, Yan C, Cheng Z, Yang M, Li Z, et al. EXOC3L2 rs597668 variant contributes to Alzheimer's disease susceptibility in Asian population. Oncotarget. 2017;8:20086-20091 pubmed publisher
    Recent genome-wide association studies have established the association between EXOC3L2 rs597668 variant and Alzheimer's disease (AD) in European population. However, recent studies reported inconsistent results in Asian population...
  9. Seshadri S, Fitzpatrick A, Ikram M, Destefano A, Gudnason V, Boada M, et al. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA. 2010;303:1832-40 pubmed publisher
    ..13; 95% confidence interval [CI],1.06-1.21 per copy of the minor allele; P = 1.59x10(-11)) and rs597668 near EXOC3L2/BLOC1S3/MARK4 (OR, 1.18; 95% CI, 1.07-1.29; P = 6.45x10(-9))...

More Information


  1. Liu Q, Miao D, Yu J, Xing Y, Zhong X, Wu Z, et al. Lack of association between rs597668 polymorphism near EXOC3L2 and late-onset Alzheimer's disease in Han Chinese. Neurosci Lett. 2012;513:174-7 pubmed publisher
    Recently, an international genome-wide association study (GWAS) additionally found rs597668 near EXOC3L2/BLOC1S3/MARK4 was a new genome-wide significance locus associated with late-onset Alzheimer's disease (LOAD) in Caucasians...
  2. Shang H, Fu J, Zhang X, Song R, Wang W. Association between EXOC3L2 rs597668 polymorphism and Alzheimer's disease. CNS Neurosci Ther. 2013;19:834-9 pubmed publisher
    b>EXOC3L2 gene rs597668 polymorphism was identified to be significantly associated with Alzheimer's disease (AD) in Caucasian population...
  3. Barkefors I, Fuchs P, Heldin J, Bergström T, Forsberg Nilsson K, Kreuger J. Exocyst complex component 3-like 2 (EXOC3L2) associates with the exocyst complex and mediates directional migration of endothelial cells. J Biol Chem. 2011;286:24189-99 pubmed publisher
    ..mouse embryonic stem cell cultures that identify an up-regulation of exocyst complex component 3-like 2 (exoc3l2) mRNA in sprouting blood vessels...