Calcium binding protein 2

CABP2
Identifiers
Aliases	CABP2, DFNB93, calcium binding protein 2
External IDs	OMIM: 607314; MGI: 1352749; GeneCards: CABP2
Gene location (Human)
Chr.	Chromosome 11 (human)
End	67,524,517 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	4,137,340 bp
RNA expression pattern
	Top expressed in
	gonad; ; mucosa of transverse colon; ; gland; ; ventricle of the heart; ; left ventricle; ; endocrine system; ; endocrine gland; ; vasculature; ; blood vessel; ; great vessels;
	Top expressed in
	neural layer of retina; ; pancreas; ; embryo; ; islet of Langerhans; ; proximal tubule; ; human kidney; ; right kidney; ; cerebellar cortex; ; stomach; ; zygote;
	More reference expression data
	n/a
Gene ontology
Molecular function	calcium ion binding; metal ion binding; calcium channel regulator activity;
Cellular component	cytoplasm; perinuclear region of cytoplasm; plasma membrane; Golgi apparatus; membrane;
Biological process	signal transduction; visual perception; hearing; response to stimulus;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	51475
	29866
	ENSG00000167791
	ENSMUSG00000024857
	Q9NPB3
	Q9JLK4
	NM_016366; NM_031204; NM_001318496
	NM_001160252; NM_001160253; NM_013878
	NP_001305425; NP_057450
	NP_001153724; NP_001153725; NP_038906
	Wikidata
View/Edit Human	View/Edit Mouse

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.

Gene

The CABP2 gene comprises 6 exons, spanning approximately 5 kb, and is situated on chromosome 11q13.1.

Function

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. 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.

Clinical significance

Moreover, The CaBP2 protein is highly expressed in the cochlea. 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.

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.

References

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.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000167791 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024857 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Haeseleer_2000-5] 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.

[6] 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.

[7] 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.

[8] 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.

[9] 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.

[10] 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.

[11] 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.

[12] 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.