LRRC8A - leucine rich repeat containing 8 VRAC subunit A Gene

Homo sapiens

Also known as AGM5; LRRC8; SWELL1; HsLRRC8A

Gene ID: 56262 | Gene type: protein coding

About LRRC8A

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,882,133-128,918,039 (from NCBI)

This gene has 5 transcripts (splice variants), 280 orthologues, 31 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 27.9), esophagus (RPKM 16.9) and 25 other tissues.

Summary

This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

LRRC8A Products(3)

mRNA	Protein	Name
NM_001127244.2	NP_001120716.1	volume-regulated anion channel subunit LRRC8A
NM_001127245.2	NP_001120717.1	volume-regulated anion channel subunit LRRC8A
NM_019594.4	NP_062540.2	volume-regulated anion channel subunit LRRC8A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cyclic-GMP-AMP transmembrane transporter activity	IDA IDA: Inferred from direct assay	33171122	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	24790029	GOA
contributes to monoatomic anion channel activity	IMP IMP: Inferred from mutant phenotype	24725410	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24790029	GOA
enables volume-sensitive anion channel activity	IDA IDA: Inferred from direct assay	30095067	GOA
enables volume-sensitive anion channel activity	IMP IMP: Inferred from mutant phenotype	26824658	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell volume homeostasis	IDA IDA: Inferred from direct assay	33139539	GOA
involved in cell volume homeostasis	IMP IMP: Inferred from mutant phenotype	24725410	GOA
involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	30095067	GOA
involved in cyclic-GMP-AMP transmembrane import across plasma membrane	IDA IDA: Inferred from direct assay	33171122	GOA
involved in monoatomic anion transmembrane transport	IDA IDA: Inferred from direct assay	30095067	GOA
involved in monoatomic anion transmembrane transport	IMP IMP: Inferred from mutant phenotype	29769723	GOA
involved in monoatomic anion transport	IMP IMP: Inferred from mutant phenotype	24725410	GOA
involved in protein hexamerization	IDA IDA: Inferred from direct assay	30095067	GOA
involved in response to osmotic stress	IMP IMP: Inferred from mutant phenotype	24725410	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell surface	IDA IDA: Inferred from direct assay	14660746	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	33139539	GOA
located in membrane	IDA IDA: Inferred from direct assay	30095067	GOA
part of monoatomic ion channel complex	IDA IDA: Inferred from direct assay	24790029	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	24725410	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRRC8A Protein Structure

Pannexin_like

LRR_8

LRR_4

LRR_8

0
200
400
600
810 a.a.

Protein Preferred Names

Protein Names

volume-regulated anion channel subunit LRRC8A

leucine rich repeat containing 8 family member A

LRRC8A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	LRRC8A	Q8IWT6	LRRC8A	Homo sapiens	Q8IWT6	3D-EM-Single	30127360
Intra	LRRC8A	Q8IWT6	LRRC8E	Homo sapiens	Q6NSJ5	Anti Bait CoIP	24790029
Intra	LRRC8A	Q8IWT6	LRRC8E	Homo sapiens	Q6NSJ5	Anti Tag CoIP	24790029
Intra	LRRC8A	Q8IWT6	LRRC8A	Homo sapiens	Q8IWT6	Anti Tag CoIP	24790029
Intra	LRRC8A	Q8IWT6	LRRC8A	Homo sapiens	Q8IWT6	3D-EM	30095067
Intra	LRRC8A	Q8IWT6	LRRC8B	Homo sapiens	Q6P9F7	Anti Tag CoIP	24790029
Intra	LRRC8A	Q8IWT6	LRRC8C	Homo sapiens	Q8TDW0	Anti Tag CoIP	24790029
Intra	LRRC8A	Q8IWT6	LRRC8D	Homo sapiens	Q7L1W4	Anti Tag CoIP	24790029

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Agammaglobulinemia 5, Autosomal Dominant

Agammaglobulinemia 5	AGM5
Agammaglobulinemia, Autosomal Dominant, Due To Lrrc8a Defect	Agammaglobulinemia Autosomal Dominant Due To Lrrc8a Defect
Agammaglobulinemia, Type 5, Autosomal Dominant

Agammaglobulinemia, Non-Bruton Type

Autosomal Agammaglobulinemia

Agammaglobulinemia

Hypogammaglobulinemia	Ighm
Mu Heavy Chain Deficiency	Mu-Heavy Chain Disease
Mu-Hcd	Mu-Chain Disease

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts	Mlc
Van Der Knaap Disease	Lvm
Leukoencephalopathy With Swelling And Cysts	Megalencephaly-Cystic Leukodystrophy
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome	Infantile Leukoencephalopathy And Megalencephaly
Leukoencephalopathy With Swelling And A Discrepantly Mild Course	Vacuolating Leukoencephalopathy
Megalencephalic Leukodystrophy	Megalencephaly-Cystic Leukodystrophy Syndrome
Van Der Knaap Syndrome	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07827	LRRC8A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LRRC8A	RGD	RGD:1311690
Mus musculus	LRRC8A	MGD	MGI:2652847
Felis catus	LRRC8A	VGNC	VGNC:97486
Canis familiaris	LRRC8A	VGNC	VGNC:42814
Bos taurus	LRRC8A	VGNC	VGNC:31029
Macaca mulatta	LRRC8A	VGNC	VGNC:81438

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