* 114051

CALBINDIN 2; CALB2


Alternative titles; symbols

CALBINDIN, 29-KD
CALBINDIN D29K
CALRETININ


HGNC Approved Gene Symbol: CALB2

Cytogenetic location: 16q22.2     Genomic coordinates (GRCh38): 16:71,358,723-71,390,433 (from NCBI)


TEXT

Mapping

Using a genomic fragment containing exon 2 of the brain calcium-binding protein, calbindin 29 kD, in the study of human/rodent somatic cell hybrids, Parmentier et al. (1989) assigned the gene to chromosome 16.

Chen et al. (1991) mapped the CALB2 gene and 11 others to the long arm of chromosome 16 by the use of 14 mouse/human hybrid cell lines and the fragile site FRA16B. The CALB2 gene was found to be in the distal portion of band 16q22.1, just proximal to HP (140100) and just distal to NMOR1 (DIA4; 125860). By in situ hybridization, Parmentier et al. (1991) mapped the CALB2 gene, called by them calretinin, to 16q22-q23.


Gene Function

Thirty percent of all cortical interneurons arise from a relatively novel source within the ventral telencephalon, the caudal ganglionic eminence (CGE) (summary by De Marco Garcia et al., 2011). Owing to their late birth date, these interneurons populate the cortex only after the majority of other interneurons and pyramidal cells are already in place and have started to functionally integrate. De Marco Garcia et al. (2011) demonstrated in mice that for CGE-derived reelin (600514)-positive and calretinin-positive, but not vasoactive intestinal peptide (VIP; 192320)-positive, interneurons, activity is essential before postnatal day 3 for correct migration, and that after postnatal day 3, glutamate-mediated activity controls the development of their axons and dendrites. Furthermore, De Marco Garcia et al. (2011) showed that the engulfment and cell motility-1 gene (Elmo1; 606420), a target of the transcription factor distal-less homeobox-1 (Dlx1; 600029), is selectively expressed in reelin-positive and calretinin-positive interneurons and is both necessary and sufficient for activity-dependent interneuron migration. De Marco Garcia et al. (2011) concluded that their findings revealed a selective requirement for activity in shaping the cortical integration of specific neuronal subtypes.


Animal Model

Schiffmann et al. (1999) showed that Calb2-deficient mice were impaired in tests of motor coordination. Impairment in intracellular calcium concentration in the Calb2-deficient Purkinje cells was supported by the high calcium saturation of calbindin-D28K (CALB1; 114050) in these cells. The firing behavior of Purkinje cells was severely affected in alert null mice, with alterations of simple spike firing rate, complex spike duration, and simple spike pause. In contrast, transmission at parallel fiber- or climbing fiber-Purkinje cell synapses was unaltered in slices, indicating that marked modifications of firing behavior in vivo can be undetectable in slice. The results were interpreted as indicating that CALB2 plays a major role at the network level in cerebellar physiology.


REFERENCES

  1. Chen, L. Z., Harris, P. C., Apostolou, S., Baker, E., Holman, K., Lane, S. A., Nancarrow, J. K., Whitmore, S. A., Stallings, R. L., Hildebrand, C. E., Richards, R. I., Sutherland, G. R., Callen, D. F. A refined physical map of the long arm of human chromosome 16. Genomics 10: 308-312, 1991. [PubMed: 2071140, related citations] [Full Text]

  2. De Marco Garcia, N. V., Karayannis, T., Fishell, G. Neuronal activity is required for the development of specific cortical interneuron subtypes. Nature 472: 351-355, 2011. [PubMed: 21460837, related citations] [Full Text]

  3. Parmentier, M., Passage, E., Vassart, G., Mattei, M.-G. The human calbindin D28k (CALB1) and calretinin (CALB2) genes are located at 8q21.3-q22.1 and 16q22-q23, respectively, suggesting a common duplication with the carbonic anhydrase isozyme loci. Cytogenet. Cell Genet. 57: 41-43, 1991. [PubMed: 1906795, related citations] [Full Text]

  4. Parmentier, M., Szpirer, J., Levan, G., Vassart, G. The human genes for calbindin 27 and 29 kDa proteins are located on chromosomes 8 and 16, respectively. Cytogenet. Cell Genet. 52: 85-87, 1989. [PubMed: 2612220, related citations] [Full Text]

  5. Schiffmann, S. N., Cheron, G., Lohof, A., d'Alcantara, P., Meyer, M., Parmentier, M., Schurmans, S. Impaired motor coordination and Purkinje cell excitability in mice lacking calretinin. Proc. Nat. Acad. Sci. 96: 5257-5262, 1999. [PubMed: 10220453, images, related citations] [Full Text]


Ada Hamosh - updated : 7/8/2011
Victor A. McKusick - updated : 2/18/2000
Creation Date:
Victor A. McKusick : 3/27/1990
alopez : 07/12/2011
terry : 7/8/2011
ckniffin : 3/31/2010
mgross : 3/16/2000
terry : 2/18/2000
mark : 3/5/1997
carol : 12/13/1994
supermim : 3/16/1992
carol : 10/10/1991
carol : 9/24/1991
carol : 6/5/1991
carol : 5/30/1991

* 114051

CALBINDIN 2; CALB2


Alternative titles; symbols

CALBINDIN, 29-KD
CALBINDIN D29K
CALRETININ


HGNC Approved Gene Symbol: CALB2

Cytogenetic location: 16q22.2     Genomic coordinates (GRCh38): 16:71,358,723-71,390,433 (from NCBI)


TEXT

Mapping

Using a genomic fragment containing exon 2 of the brain calcium-binding protein, calbindin 29 kD, in the study of human/rodent somatic cell hybrids, Parmentier et al. (1989) assigned the gene to chromosome 16.

Chen et al. (1991) mapped the CALB2 gene and 11 others to the long arm of chromosome 16 by the use of 14 mouse/human hybrid cell lines and the fragile site FRA16B. The CALB2 gene was found to be in the distal portion of band 16q22.1, just proximal to HP (140100) and just distal to NMOR1 (DIA4; 125860). By in situ hybridization, Parmentier et al. (1991) mapped the CALB2 gene, called by them calretinin, to 16q22-q23.


Gene Function

Thirty percent of all cortical interneurons arise from a relatively novel source within the ventral telencephalon, the caudal ganglionic eminence (CGE) (summary by De Marco Garcia et al., 2011). Owing to their late birth date, these interneurons populate the cortex only after the majority of other interneurons and pyramidal cells are already in place and have started to functionally integrate. De Marco Garcia et al. (2011) demonstrated in mice that for CGE-derived reelin (600514)-positive and calretinin-positive, but not vasoactive intestinal peptide (VIP; 192320)-positive, interneurons, activity is essential before postnatal day 3 for correct migration, and that after postnatal day 3, glutamate-mediated activity controls the development of their axons and dendrites. Furthermore, De Marco Garcia et al. (2011) showed that the engulfment and cell motility-1 gene (Elmo1; 606420), a target of the transcription factor distal-less homeobox-1 (Dlx1; 600029), is selectively expressed in reelin-positive and calretinin-positive interneurons and is both necessary and sufficient for activity-dependent interneuron migration. De Marco Garcia et al. (2011) concluded that their findings revealed a selective requirement for activity in shaping the cortical integration of specific neuronal subtypes.


Animal Model

Schiffmann et al. (1999) showed that Calb2-deficient mice were impaired in tests of motor coordination. Impairment in intracellular calcium concentration in the Calb2-deficient Purkinje cells was supported by the high calcium saturation of calbindin-D28K (CALB1; 114050) in these cells. The firing behavior of Purkinje cells was severely affected in alert null mice, with alterations of simple spike firing rate, complex spike duration, and simple spike pause. In contrast, transmission at parallel fiber- or climbing fiber-Purkinje cell synapses was unaltered in slices, indicating that marked modifications of firing behavior in vivo can be undetectable in slice. The results were interpreted as indicating that CALB2 plays a major role at the network level in cerebellar physiology.


REFERENCES

  1. Chen, L. Z., Harris, P. C., Apostolou, S., Baker, E., Holman, K., Lane, S. A., Nancarrow, J. K., Whitmore, S. A., Stallings, R. L., Hildebrand, C. E., Richards, R. I., Sutherland, G. R., Callen, D. F. A refined physical map of the long arm of human chromosome 16. Genomics 10: 308-312, 1991. [PubMed: 2071140] [Full Text: https://doi.org/10.1016/0888-7543(91)90313-4]

  2. De Marco Garcia, N. V., Karayannis, T., Fishell, G. Neuronal activity is required for the development of specific cortical interneuron subtypes. Nature 472: 351-355, 2011. [PubMed: 21460837] [Full Text: https://doi.org/10.1038/nature09865]

  3. Parmentier, M., Passage, E., Vassart, G., Mattei, M.-G. The human calbindin D28k (CALB1) and calretinin (CALB2) genes are located at 8q21.3-q22.1 and 16q22-q23, respectively, suggesting a common duplication with the carbonic anhydrase isozyme loci. Cytogenet. Cell Genet. 57: 41-43, 1991. [PubMed: 1906795] [Full Text: https://doi.org/10.1159/000133111]

  4. Parmentier, M., Szpirer, J., Levan, G., Vassart, G. The human genes for calbindin 27 and 29 kDa proteins are located on chromosomes 8 and 16, respectively. Cytogenet. Cell Genet. 52: 85-87, 1989. [PubMed: 2612220] [Full Text: https://doi.org/10.1159/000132847]

  5. Schiffmann, S. N., Cheron, G., Lohof, A., d'Alcantara, P., Meyer, M., Parmentier, M., Schurmans, S. Impaired motor coordination and Purkinje cell excitability in mice lacking calretinin. Proc. Nat. Acad. Sci. 96: 5257-5262, 1999. [PubMed: 10220453] [Full Text: https://doi.org/10.1073/pnas.96.9.5257]


Contributors:
Ada Hamosh - updated : 7/8/2011
Victor A. McKusick - updated : 2/18/2000

Creation Date:
Victor A. McKusick : 3/27/1990

Edit History:
alopez : 07/12/2011
terry : 7/8/2011
ckniffin : 3/31/2010
mgross : 3/16/2000
terry : 2/18/2000
mark : 3/5/1997
carol : 12/13/1994
supermim : 3/16/1992
carol : 10/10/1991
carol : 9/24/1991
carol : 6/5/1991
carol : 5/30/1991