Gene: VRK2
Alternate names for this Gene: -
Gene Summary: This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity.
Gene is located in Chromosome: 2
Location in Chromosome : 2p16.1
Description of this Gene: VRK serine/threonine kinase 2
Type of Gene: protein-coding
Gene: FANCL
Alternate names for this Gene: FAAP43|PHF9|POG
Gene Summary: This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 2
Location in Chromosome : 2p16.1
Description of this Gene: FA complementation group L
Type of Gene: protein-coding
rs747253294 in
VRK2;FANCL gene and
FANCONI ANEMIA, COMPLEMENTATION GROUP L
PMID 19405097 2009 Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
PMID 25659033 2015 FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex.
PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
PMID 25239263 2015 Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
rs1558737575 in
VRK2;FANCL gene and
Fanconi Anemia
PMID 19405097 2009 Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
PMID 17938197 2007 UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination.
PMID 12973351 2003 A novel ubiquitin ligase is deficient in Fanconi anemia.
PMID 19111657 2008 Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI.
PMID 24389026 2014 Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection.