Calcium binding protein 2, also known as CaBP2, is a
protein that in humans is encoded by the CABP2
gene.
The CABP2 gene comprises 6 exons, spanning approximately 5 kb, and is situated on chromosome 11q13.1. [1]
CaBP2 contain a consensus sequence for N-terminal myristoylation, akin to members of the recoverin subfamily, and undergoes fatty acid acylation in vitro. [2]
Function and clinical significance
CaBP2 involves in calcium signaling and regulation. Specifically, CaBP2 is known for its ability to bind calcium ions, acting as a calcium sensor within cells. [3] This interaction with calcium plays a crucial role in various cellular processes, including neurotransmitter release in neurons and modulation of ion channels. CaBP2 is found in the retina and plays a significant role in visual signal processing. It interacts with other proteins, including those involved in the phototransduction cascade, contributing to the regulation of calcium levels in response to light stimuli. [4] [5]
Moreover, The CaBP2 protein is highly expressed in the cochlea. [6] Non-syndromic autosomal recessive hearing impairment DFNB93, caused by defects in the CABP2 gene. Genetic defects in CABP2 may result in moderate to severe sensorineural hearing impairment. [7] [8]
As of 2021, CaBP2-related non-syndromic hearing impairment has been reported in only a few families worldwide, including those in Iran, Turkey, Pakistan, Italy, and Denmark. [9]
References
- ^ Haeseleer, Françoise; Sokal, Izabela; Verlinde, Christophe L.M.J.; Erdjument-Bromage, Hediye; Tempst, Paul; Pronin, Alexey N.; Benovic, Jeffrey L.; Fariss, Robert N.; Palczewski, Krzysztof (2000). "Five Members of a Novel Ca2+-binding Protein (CABP) Subfamily with Similarity to Calmodulin". Journal of Biological Chemistry. 275 (2): 1247–1260. doi: 10.1074/jbc.275.2.1247. PMC 1364469. PMID 10625670.
- ^ Haeseleer, Françoise; Sokal, Izabela; Verlinde, Christophe L.M.J.; Erdjument-Bromage, Hediye; Tempst, Paul; Pronin, Alexey N.; Benovic, Jeffrey L.; Fariss, Robert N.; Palczewski, Krzysztof (2000). "Five Members of a Novel Ca2+-binding Protein (CABP) Subfamily with Similarity to Calmodulin". Journal of Biological Chemistry. 275 (2): 1247–1260. doi: 10.1074/jbc.275.2.1247. ISSN 0021-9258. PMC 1364469. PMID 10625670.
- ^ Haynes, Lee P.; McCue, Hannah V.; Burgoyne, Robert D. (2012). "Evolution and functional diversity of the Calcium Binding Proteins (CaBPs)". Frontiers in Molecular Neuroscience. 5: 9. doi: 10.3389/fnmol.2012.00009. ISSN 1662-5099. PMC 3284769. PMID 22375103.
- ^ Williams, R.J.P. (2000). "A survey of the Sixth European Symposium on Calcium-binding Proteins". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1498 (2–3): 82–83. doi: 10.1016/s0167-4889(00)00116-6. ISSN 0167-4889. PMID 11108951.
- ^ Sinha, Raunak; Lee, Amy; Rieke, Fred; Haeseleer, Françoise (2016). "Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses". eNeuro. 3 (5): ENEURO.0099–16.2016. doi: 10.1523/eneuro.0099-16.2016. ISSN 2373-2822. PMC 5083949. PMID 27822497.
- ^ Yang, Tian; Hu, Ning; Pangršič, Tina; Green, Steven; Hansen, Marlan; Lee, Amy (2018). "Functions of CaBP1 and CaBP2 in the peripheral auditory system". Hearing Research. 364: 48–58. doi: 10.1016/j.heares.2018.04.001. ISSN 0378-5955. PMC 6954825. PMID 29661613.
- ^ Schrauwen, Isabelle; Helfmann, Sarah; Inagaki, Akira; Predoehl, Friederike; Tabatabaiefar, Mohammad Amin; Picher, Maria Magdalena; Sommen, Manou; Zazo Seco, Celia; Oostrik, Jaap; Kremer, Hannie; Dheedene, Annelies; Claes, Charlotte; Fransen, Erik; Chaleshtori, Morteza Hashemzadeh; Coucke, Paul (2012). "A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment". The American Journal of Human Genetics. 91 (4): 636–645. doi: 10.1016/j.ajhg.2012.08.018. ISSN 0002-9297. PMC 3484643. PMID 22981119.
- ^ Oestreicher, David; Picher, Maria Magdalena; Rankovic, Vladan; Moser, Tobias; Pangrsic, Tina (2021-08-19). "Cabp2-Gene Therapy Restores Inner Hair Cell Calcium Currents and Improves Hearing in a DFNB93 Mouse Model". Frontiers in Molecular Neuroscience. 14. doi: 10.3389/fnmol.2021.689415. ISSN 1662-5099. PMC 8417311. PMID 34489639.
- ^ Sheyanth, Inger Norlyk; Højland, Allan Thomas; Okkels, Henrik; Lolas, Ihab; Thorup, Christian; Petersen, Michael Bjørn (2021). "First reported CABP2 -related non-syndromic hearing loss in Northern Europe". Molecular Genetics & Genomic Medicine. 9 (4): e1639. doi: 10.1002/mgg3.1639. ISSN 2324-9269. PMC 8123739. PMID 33666369.
Calcium binding protein 2, also known as CaBP2, is a
protein that in humans is encoded by the CABP2
gene.
The CABP2 gene comprises 6 exons, spanning approximately 5 kb, and is situated on chromosome 11q13.1. [1]
CaBP2 contain a consensus sequence for N-terminal myristoylation, akin to members of the recoverin subfamily, and undergoes fatty acid acylation in vitro. [2]
Function and clinical significance
CaBP2 involves in calcium signaling and regulation. Specifically, CaBP2 is known for its ability to bind calcium ions, acting as a calcium sensor within cells. [3] This interaction with calcium plays a crucial role in various cellular processes, including neurotransmitter release in neurons and modulation of ion channels. CaBP2 is found in the retina and plays a significant role in visual signal processing. It interacts with other proteins, including those involved in the phototransduction cascade, contributing to the regulation of calcium levels in response to light stimuli. [4] [5]
Moreover, The CaBP2 protein is highly expressed in the cochlea. [6] Non-syndromic autosomal recessive hearing impairment DFNB93, caused by defects in the CABP2 gene. Genetic defects in CABP2 may result in moderate to severe sensorineural hearing impairment. [7] [8]
As of 2021, CaBP2-related non-syndromic hearing impairment has been reported in only a few families worldwide, including those in Iran, Turkey, Pakistan, Italy, and Denmark. [9]
References
- ^ Haeseleer, Françoise; Sokal, Izabela; Verlinde, Christophe L.M.J.; Erdjument-Bromage, Hediye; Tempst, Paul; Pronin, Alexey N.; Benovic, Jeffrey L.; Fariss, Robert N.; Palczewski, Krzysztof (2000). "Five Members of a Novel Ca2+-binding Protein (CABP) Subfamily with Similarity to Calmodulin". Journal of Biological Chemistry. 275 (2): 1247–1260. doi: 10.1074/jbc.275.2.1247. PMC 1364469. PMID 10625670.
- ^ Haeseleer, Françoise; Sokal, Izabela; Verlinde, Christophe L.M.J.; Erdjument-Bromage, Hediye; Tempst, Paul; Pronin, Alexey N.; Benovic, Jeffrey L.; Fariss, Robert N.; Palczewski, Krzysztof (2000). "Five Members of a Novel Ca2+-binding Protein (CABP) Subfamily with Similarity to Calmodulin". Journal of Biological Chemistry. 275 (2): 1247–1260. doi: 10.1074/jbc.275.2.1247. ISSN 0021-9258. PMC 1364469. PMID 10625670.
- ^ Haynes, Lee P.; McCue, Hannah V.; Burgoyne, Robert D. (2012). "Evolution and functional diversity of the Calcium Binding Proteins (CaBPs)". Frontiers in Molecular Neuroscience. 5: 9. doi: 10.3389/fnmol.2012.00009. ISSN 1662-5099. PMC 3284769. PMID 22375103.
- ^ Williams, R.J.P. (2000). "A survey of the Sixth European Symposium on Calcium-binding Proteins". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1498 (2–3): 82–83. doi: 10.1016/s0167-4889(00)00116-6. ISSN 0167-4889. PMID 11108951.
- ^ Sinha, Raunak; Lee, Amy; Rieke, Fred; Haeseleer, Françoise (2016). "Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses". eNeuro. 3 (5): ENEURO.0099–16.2016. doi: 10.1523/eneuro.0099-16.2016. ISSN 2373-2822. PMC 5083949. PMID 27822497.
- ^ Yang, Tian; Hu, Ning; Pangršič, Tina; Green, Steven; Hansen, Marlan; Lee, Amy (2018). "Functions of CaBP1 and CaBP2 in the peripheral auditory system". Hearing Research. 364: 48–58. doi: 10.1016/j.heares.2018.04.001. ISSN 0378-5955. PMC 6954825. PMID 29661613.
- ^ Schrauwen, Isabelle; Helfmann, Sarah; Inagaki, Akira; Predoehl, Friederike; Tabatabaiefar, Mohammad Amin; Picher, Maria Magdalena; Sommen, Manou; Zazo Seco, Celia; Oostrik, Jaap; Kremer, Hannie; Dheedene, Annelies; Claes, Charlotte; Fransen, Erik; Chaleshtori, Morteza Hashemzadeh; Coucke, Paul (2012). "A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment". The American Journal of Human Genetics. 91 (4): 636–645. doi: 10.1016/j.ajhg.2012.08.018. ISSN 0002-9297. PMC 3484643. PMID 22981119.
- ^ Oestreicher, David; Picher, Maria Magdalena; Rankovic, Vladan; Moser, Tobias; Pangrsic, Tina (2021-08-19). "Cabp2-Gene Therapy Restores Inner Hair Cell Calcium Currents and Improves Hearing in a DFNB93 Mouse Model". Frontiers in Molecular Neuroscience. 14. doi: 10.3389/fnmol.2021.689415. ISSN 1662-5099. PMC 8417311. PMID 34489639.
- ^ Sheyanth, Inger Norlyk; Højland, Allan Thomas; Okkels, Henrik; Lolas, Ihab; Thorup, Christian; Petersen, Michael Bjørn (2021). "First reported CABP2 -related non-syndromic hearing loss in Northern Europe". Molecular Genetics & Genomic Medicine. 9 (4): e1639. doi: 10.1002/mgg3.1639. ISSN 2324-9269. PMC 8123739. PMID 33666369.