Calcium binding protein 2
| CABP2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CABP2, DFNB93, calcium binding protein 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607314; MGI: 1352749; GeneCards: CABP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Calcium binding protein 2, also known as CaBP2, is a protein that in humans is encoded by the CABP2 gene.
CaBP2 contain a consensus sequence for N-terminal myristoylation, akin to members of the recoverin subfamily, and undergoes fatty acid acylation in vitro.[5]
Gene
[edit]The CABP2 gene comprises 6 exons, spanning approximately 5 kb, and is situated on chromosome 11q13.1.[5]
Function
[edit]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.[6] 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.[7][8]
Clinical significance
[edit]Moreover, The CaBP2 protein is highly expressed in the cochlea.[9] 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.[10][11]
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.[12]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000167791 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024857 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 Haeseleer F, Sokal I, Verlinde CL, Erdjument-Bromage H, Tempst P, Pronin AN, et al. (January 2000). "Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin". The Journal of Biological Chemistry. 275 (2): 1247–1260. doi:10.1074/jbc.275.2.1247. PMC 1364469. PMID 10625670.
- ↑ Haynes LP, McCue HV, Burgoyne RD (January 2012). "Evolution and functional diversity of the Calcium Binding Proteins (CaBPs)". Frontiers in Molecular Neuroscience. 5 9. doi:10.3389/fnmol.2012.00009. PMC 3284769. PMID 22375103.
- ↑ Williams RJ (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 R, Lee A, Rieke F, Haeseleer F (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. PMC 5083949. PMID 27822497.
- ↑ Yang T, Hu N, Pangršič T, Green S, Hansen M, Lee A (July 2018). "Functions of CaBP1 and CaBP2 in the peripheral auditory system". Hearing Research. 364: 48–58. doi:10.1016/j.heares.2018.04.001. PMC 6954825. PMID 29661613.
- ↑ Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, et al. (October 2012). "A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment". American Journal of Human Genetics. 91 (4): 636–645. doi:10.1016/j.ajhg.2012.08.018. PMC 3484643. PMID 22981119.
- ↑ Oestreicher D, Picher MM, Rankovic V, Moser T, Pangrsic T (2021). "Cabp2-Gene Therapy Restores Inner Hair Cell Calcium Currents and Improves Hearing in a DFNB93 Mouse Model". Frontiers in Molecular Neuroscience. 14 689415. doi:10.3389/fnmol.2021.689415. PMC 8417311. PMID 34489639.
- ↑ Sheyanth IN, Højland AT, Okkels H, Lolas I, Thorup C, Petersen MB (April 2021). "First reported CABP2-related non-syndromic hearing loss in Northern Europe". Molecular Genetics & Genomic Medicine. 9 (4) e1639. doi:10.1002/mgg3.1639. PMC 8123739. PMID 33666369.