Chromosome 3 is made up of about 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3. The KIAA2018 gene product has been provisionally designated KIAA2018 pending further characterization.
Subcellular Location:
Nucleus.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
Similarity:
Contains 1 basic helix-loop-helix (bHLH) domain.
SWISS:
Q68DE3
Gene ID:
205717
Database links:
Entrez Gene: 205717 Human
SwissProt: Q68DE3 Human
Unigene: 632570 Human
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