Calcium binding protein 2: Difference between revisions
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The ''CABP2'' gene comprises 6 exons, spanning approximately 5 kb, and is situated on chromosome 11q13.1.<ref>{{Cite journal |last=Haeseleer |first=Françoise |last2=Sokal |first2=Izabela |last3=Verlinde |first3=Christophe L.M.J. |last4=Erdjument-Bromage |first4=Hediye |last5=Tempst |first5=Paul |last6=Pronin |first6=Alexey N. |last7=Benovic |first7=Jeffrey L. |last8=Fariss |first8=Robert N. |last9=Palczewski |first9=Krzysztof |date=2000 |title=Five Members of a Novel Ca2+-binding Protein (CABP) Subfamily with Similarity to Calmodulin |url=https://linkinghub.elsevier.com/retrieve/pii/S0021925818312420 |journal=Journal of Biological Chemistry |language=en |volume=275 |issue=2 |pages=1247–1260 |doi=10.1074/jbc.275.2.1247}}</ref> |
The ''CABP2'' gene comprises 6 exons, spanning approximately 5 kb, and is situated on chromosome 11q13.1.<ref>{{Cite journal |last=Haeseleer |first=Françoise |last2=Sokal |first2=Izabela |last3=Verlinde |first3=Christophe L.M.J. |last4=Erdjument-Bromage |first4=Hediye |last5=Tempst |first5=Paul |last6=Pronin |first6=Alexey N. |last7=Benovic |first7=Jeffrey L. |last8=Fariss |first8=Robert N. |last9=Palczewski |first9=Krzysztof |date=2000 |title=Five Members of a Novel Ca2+-binding Protein (CABP) Subfamily with Similarity to Calmodulin |url=https://linkinghub.elsevier.com/retrieve/pii/S0021925818312420 |journal=Journal of Biological Chemistry |language=en |volume=275 |issue=2 |pages=1247–1260 |doi=10.1074/jbc.275.2.1247}}</ref> |
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CaBP2 contain a consensus sequence for N-terminal myristoylation, akin to members of the recoverin subfamily, and undergoes fatty acid acylation ''in vitro.''<ref>{{Cite journal |last=Haeseleer |first=Françoise |last2=Sokal |first2=Izabela |last3=Verlinde |first3=Christophe L.M.J. |last4=Erdjument-Bromage |first4=Hediye |last5=Tempst |first5=Paul |last6=Pronin |first6=Alexey N. |last7=Benovic |first7=Jeffrey L. |last8=Fariss |first8=Robert N. |last9=Palczewski |first9=Krzysztof |date=2000 |title=Five Members of a Novel Ca2+-binding Protein (CABP) Subfamily with Similarity to Calmodulin |url=http://dx.doi.org/10.1074/jbc.275.2.1247 |journal=Journal of Biological Chemistry |volume=275 |issue=2 |pages=1247–1260 |doi=10.1074/jbc.275.2.1247 |issn=0021-9258}}</ref> |
CaBP2 contain a consensus sequence for N-terminal myristoylation, akin to members of the recoverin subfamily, and undergoes fatty acid acylation ''in vitro.''<ref>{{Cite journal |last=Haeseleer |first=Françoise |last2=Sokal |first2=Izabela |last3=Verlinde |first3=Christophe L.M.J. |last4=Erdjument-Bromage |first4=Hediye |last5=Tempst |first5=Paul |last6=Pronin |first6=Alexey N. |last7=Benovic |first7=Jeffrey L. |last8=Fariss |first8=Robert N. |last9=Palczewski |first9=Krzysztof |date=2000 |title=Five Members of a Novel Ca2+-binding Protein (CABP) Subfamily with Similarity to Calmodulin |url=http://dx.doi.org/10.1074/jbc.275.2.1247 |journal=Journal of Biological Chemistry |volume=275 |issue=2 |pages=1247–1260 |doi=10.1074/jbc.275.2.1247 |issn=0021-9258}}</ref> |
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== Function == |
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The CaBP2 protein is highly expressed in the cochlea.<ref>{{Cite journal |last=Yang |first=Tian |last2=Hu |first2=Ning |last3=Pangršič |first3=Tina |last4=Green |first4=Steven |last5=Hansen |first5=Marlan |last6=Lee |first6=Amy |date=2018 |title=Functions of CaBP1 and CaBP2 in the peripheral auditory system |url=http://dx.doi.org/10.1016/j.heares.2018.04.001 |journal=Hearing Research |volume=364 |pages=48–58 |doi=10.1016/j.heares.2018.04.001 |issn=0378-5955}}</ref> |
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| ⚫ | 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.<ref>{{Cite journal |last=Schrauwen |first=Isabelle |last2=Helfmann |first2=Sarah |last3=Inagaki |first3=Akira |last4=Predoehl |first4=Friederike |last5=Tabatabaiefar |first5=Mohammad Amin |last6=Picher |first6=Maria Magdalena |last7=Sommen |first7=Manou |last8=Zazo Seco |first8=Celia |last9=Oostrik |first9=Jaap |last10=Kremer |first10=Hannie |last11=Dheedene |first11=Annelies |last12=Claes |first12=Charlotte |last13=Fransen |first13=Erik |last14=Chaleshtori |first14=Morteza Hashemzadeh |last15=Coucke |first15=Paul |date=2012 |title=A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment |url=http://dx.doi.org/10.1016/j.ajhg.2012.08.018 |journal=The American Journal of Human Genetics |volume=91 |issue=4 |pages=636–645 |doi=10.1016/j.ajhg.2012.08.018 |issn=0002-9297}}</ref><ref>{{Cite journal |last=Oestreicher |first=David |last2=Picher |first2=Maria Magdalena |last3=Rankovic |first3=Vladan |last4=Moser |first4=Tobias |last5=Pangrsic |first5=Tina |date=2021-08-19 |title=Cabp2-Gene Therapy Restores Inner Hair Cell Calcium Currents and Improves Hearing in a DFNB93 Mouse Model |url=https://www.frontiersin.org/articles/10.3389/fnmol.2021.689415/full |journal=Frontiers in Molecular Neuroscience |volume=14 |doi=10.3389/fnmol.2021.689415 |issn=1662-5099}}</ref> |
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== References == |
== References == |
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Revision as of 21:58, 17 November 2023
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
The CaBP2 protein is highly expressed in the cochlea.[3]
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.[4][5]
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.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ 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.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ 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.
- ^ 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.
- ^ 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.
{{cite journal}}: CS1 maint: unflagged free DOI (link)