Alternative titles; symbols
HGNC Approved Gene Symbol: BTBD3
Cytogenetic location: 20p12.2 Genomic coordinates (GRCh38): 20:11,890,817-11,926,595 (from NCBI)
By sequencing clones obtained from a size-fractionated human brain cDNA library, Nagase et al. (1999) cloned BTBD3, which they designated KIAA0952. The deduced protein contains 522 amino acids. RT-PCR ELISA detected variable BTBD3 expression in all adult and fetal tissues examined, with highest expression in whole adult brain and in all specific adult brain regions examined. Expression was also high in ovary, heart, lung, and testis.
Using in situ hybridization, Schonrock et al. (2012) found that the BTBD3 transcript was highly expressed in CA2 and dentate gyrus of hippocampus.
Schonrock et al. (2012) identified 2 potential binding sites for microRNA-181C (MIR181C; 612746) in the 3-prime UTR of BTBD3. Expression of a BTBD3 reporter gene was downregulated by MIR181C following expression in HeLa cells.
Matsui et al. (2013) showed that during the development of the sensory cortex, dendritic field orientation is controlled by BTBD3. In developing mouse somatosensory cortex, endogenous Btbd3 translocated to the cell nucleus in response to neuronal activity and oriented primary dendrites toward active axons in the barrel hollow. Btbd3 also directed dendrites toward active axon terminals when ectopically expressed in mouse visual cortex or normally expressed in ferret visual cortex. BTBD3 regulation of dendrite orientation is conserved across species and cortical areas and shows how high-acuity sensory function may be achieved by tuning subcellular polarity to sources of high sensory activity.
Hartz (2013) mapped the BTBD3 gene to chromosome 20p12.2 based on an alignment of the BTBD3 sequence (GenBank AB023169) with the genomic sequence (GRCh37).
Hartz, P. A. Personal Communication. Baltimore, Md. 12/13/2013.
Matsui, A., Tran, M., Yoshida, A. C., Kikuchi, S. S., U, M., Ogawa, M., Shimogori, T. BTBD3 controls dendrite orientation toward active axons in mammalian neocortex. Science 342: 1114-1118, 2013. [PubMed: 24179155] [Full Text: https://doi.org/10.1126/science.1244505]
Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 63-70, 1999. [PubMed: 10231032] [Full Text: https://doi.org/10.1093/dnares/6.1.63]
Schonrock, N., Humphreys, D. T., Preiss, T., Gotz, J. Target gene repression mediated by miRNAs miR-181c and miR-9 both of which are down-regulated by amyloid-beta. J. Molec. Neurosci. 46: 324-335, 2012. [PubMed: 21720722] [Full Text: https://doi.org/10.1007/s12031-011-9587-2]