Alternative titles; symbols
HGNC Approved Gene Symbol: MOB2
Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38) : 11:1,469,448-1,486,779 (from NCBI)
By molecular indexing of cDNA fragments, followed by 5- and 3-prime RACE PCR, Doyu et al. (2001) identified HCCA2, which is downregulated in the brain of patients with Alzheimer disease (AD; 104300) compared to control brain tissue. The deduced 255-amino acid protein has a calculated molecular mass of 26 kD. The C-terminal amino acids 175 to 220 share 40 to 60% sequence identity with Arg/Abl-interacting protein (SORBS2; 616349), SHC2 (605217), and SYN1 (313440). HCCA2 contains a predicted leucine zipper and a C-terminal proline-rich region, predicting 2 SH3-binding motifs. Northern blot analysis of human tissues detected a 1.6-kb transcript with high expression in heart and skeletal muscle, moderate expression in kidney, liver, small intestine, placenta, lung, and brain, with almost no expression in peripheral blood leukocytes. Northern blot analysis of neuronal tissue detected moderate expression in cerebral cortex and moderate to low expression in putamen, temporal lobe, frontal lobe, occipital pole, spinal cord, medulla, and cerebellum. In situ hybridization of brain localized HCCA2 expression to neurons, especially to the pyramidal cells of the cortex.
Doyu, M., Sawada, K., Mitsuma, N., Niwa, J., Yoshimoto, M., Fujii, Y., Sobue, G., Kato, K. Gene expression profile in Alzheimer's brain screened by molecular indexing. Molec. Brain Res. 87: 1-11, 2001. [PubMed: 11223154] [Full Text: https://doi.org/10.1016/s0169-328x(00)00223-0]