ACCN4
Acid sensing (proton gated) ion channel family member 4 | |||||||||||||
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Identifiers | |||||||||||||
Symbols | ASIC4 ; ACCN4; BNAC4 | ||||||||||||
External IDs | OMIM: 606715 MGI: 2652846 HomoloGene: 11166 GeneCards: ASIC4 Gene | ||||||||||||
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Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 55515 | 241118 | |||||||||||
Ensembl | ENSG00000072182 | ENSMUSG00000033007 | |||||||||||
UniProt | Q96FT7 | Q7TNS7 | |||||||||||
RefSeq (mRNA) | NM_018674 | NM_183022 | |||||||||||
RefSeq (protein) | NP_878267 | NP_898843 | |||||||||||
Location (UCSC) |
Chr 2: 219.51 – 219.54 Mb |
Chr 1: 75.45 – 75.47 Mb | |||||||||||
PubMed search | |||||||||||||
Amiloride-sensitive cation channel 4 also known as amiloride-sensitive cation channel 4, neuronal (ACCN4) or amiloride-sensitive cation channel 4, pituitary or acid-sensing ion channel 4 (ASIC4) is a membrane protein that in humans is encoded by the ACCN4 gene. The ASIC4 protein is a member of the acid-sensing ion channel family that is expressed in the pituitary gland and other parts of the brain. ASIC4 may have lost its ion transport function[1] but play a regulatory role through interactions with other members of the family[2] or other proteins.[3][4]
Function
This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC.[4]
References
- ↑ Ishikita H (2011). Wanunu M, ed. "Proton-binding sites of acid-sensing ion channel 1". PLoS ONE 6 (2): e16920. doi:10.1371/journal.pone.0016920. PMC 3038902. PMID 21340031.
- ↑ Chen X, Polleichtner G, Kadurin I, Gründer S (2007). "Zebrafish acid-sensing ion channel (ASIC) 4, characterization of homo- and heteromeric channels, and identification of regions important for activation by H+". J. Biol. Chem. 282 (42): 30406–13. doi:10.1074/jbc.M702229200. PMID 17686779.
- ↑ Donier E, Rugiero F, Jacob C, Wood JN (2008). "Regulation of ASIC activity by ASIC4--new insights into ASIC channel function revealed by a yeast two-hybrid assay". Eur. J. Neurosci. 28 (1): 74–86. doi:10.1111/j.1460-9568.2008.06282.x. PMID 18662336.
- 1 2 "Entrez Gene: amiloride-sensitive cation channel 4".
Further reading
- Donier E, Rugiero F, Jacob C, Wood JN (2008). "Regulation of ASIC activity by ASIC4--new insights into ASIC channel function revealed by a yeast two-hybrid assay". Eur. J. Neurosci. 28 (1): 74–86. doi:10.1111/j.1460-9568.2008.06282.x. PMID 18662336.
- Gründer S, Geissler HS, Bässler EL, Ruppersberg JP (2000). "A new member of acid-sensing ion channels from pituitary gland". NeuroReport 11 (8): 1607–11. doi:10.1097/00001756-200006050-00003. PMID 10852210.
- "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1998. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Gründer S, Geisler HS, Rainier S, Fink JK (2001). "Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia". Eur. J. Hum. Genet. 9 (9): 672–6. doi:10.1038/sj.ejhg.5200699. PMID 11571555.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.