LRRC8A

LRRC8A
Identifiers
Aliases	LRRC8A, AGM5, LRRC8, SWELL1, leucine-rich repeat containing 8 family member A, leucine rich repeat containing 8 family member A
External IDs	MGI: 2652847 HomoloGene: 18617 GeneCards: LRRC8A
Gene ontology Molecular function • anion channel activity • protein binding • volume-sensitive anion channel activity Cellular component • integral component of membrane • cell surface • plasma membrane • ion channel complex • membrane Biological process • pre-B cell differentiation • response to osmotic stress • cell volume homeostasis • cell differentiation • ion transport • anion transport • transport • regulation of anion transport • anion transmembrane transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56262	241296
Ensembl	ENSG00000136802	ENSMUSG00000007476
UniProt	Q8IWT6	Q80WG5
RefSeq (mRNA)	NM_001127244 NM_001127245 NM_019594	NM_177725
RefSeq (protein)	NP_001120716.1 NP_001120717.1 NP_062540.2	NP_808393.1
Location (UCSC)	Chr 9: 128.88 – 128.92 Mb	Chr 2: 30.24 – 30.26 Mb
PubMed search	[1]	[2]
Wikidata

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Leucine-rich repeat-containing protein 8A is a protein that in humans is encoded by the LRRC8A gene.^[3]

It is associated with agammaglobulinemia-5.

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: LRRC8A leucine rich repeat containing 8 family, member A".

Further reading

• Nagase T, Kikuno R, Ishikawa KI, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
• Sawada A, Takihara Y, Kim JY, et al. (2004). "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans". J. Clin. Invest. 112 (11): 1707–13. doi:10.1172/JCI18937. PMC 281644. PMID 14660746.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Kubota K, Kim JY, Sawada A, et al. (2004). "LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins". FEBS Lett. 564 (1–2): 147–52. doi:10.1016/S0014-5793(04)00332-1. PMID 15094057.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
• Smits G, Kajava AV (2004). "LRRC8 extracellular domain is composed of 17 leucine-rich repeats". Mol. Immunol. 41 (5): 561–2. doi:10.1016/j.molimm.2004.04.001. PMID 15183935.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.