X-Nico

unusual facts about chromosome 2



Focal facial dermal dysplasia

Type II appears to be due to mutations in the transcription factor TWIST2 on chromosome 2.

Juvenile primary lateral sclerosis

Mutations in the ALS2 gene, found on Chromosome 2, are responsible for causing Juvenile Primary Lateral Sclerosis.

Pitt–Hopkins syndrome

A Pitt–Hopkins like phenotype has been assigned to autosomal recessive mutations of the contactin associated protein like 2 (CNTNAP2) gene on the long arm of chromosome 7 (7q33-q36) and the neurexin 1 alpha (NRXN1) gene on the short arm of chromosome 2 (2p16.3).


see also

HOTAIR

It is shuttled from chromosome 12 to chromosome 2 by the Suz-Twelve protein.