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Cross checking with epidemiological estimates and model validation suggests that CLIP2 is a marker of high precision. CLIP2 leaves an imprint in the epidemiological incidence data which is typical for a driver gene.
CLIP2 protein expression is elevated in papillary thyroid carcinomas from patients exposed to radioiodine fallout compared with a nonexposed control group.
A clear radiation dose-response relationship for the CLIP2 marker expression in post-Chernobyl papillary thyroid carcinomas
CLIP2 haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome; GTF2IRD1 and GTF2I (show GTF2I Proteins) are the main genes causing the cognitive defects
Data show that gene CLIP2 was specifically overexpressed in the exposed cases.
evidence that mice with haploinsufficiency for Cyln2 have features reminiscent of Williams syndrome, including mild growth deficiency, brain abnormalities, hippocampal dysfunction and particular deficits in motor coordination
Williams Syndrome is caused by a variety of genes and that heterozygous deletion of CYLN2 is one of the major causes
The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants.
CAP-Gly domain-containing linker protein 2
, Williams-Beuren syndrome chromosome region 3
, Williams-Beuren syndrome chromosome region 4
, cytoplasmic linker 2
, cytoplasmic linker protein 115
, cytoplasmic linker protein 2
, williams-Beuren syndrome chromosomal region 3 protein
, williams-Beuren syndrome chromosomal region 4 protein
, cytoplasmic linker protein 1, 115 kDa
, CAP-GLY domain containing linker protein 2
, CAP-Gly domain-containing linker protein 2-like