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Gene: LRRC8A (leucine rich repeat containing 8 VRAC subunit A) Homo sapiens
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Symbol: LRRC8A
Name: leucine rich repeat containing 8 VRAC subunit A
Description: Exhibits identical protein binding activity and volume-sensitive anion channel activity. Contributes to anion channel activity. Involved in anion transmembrane transport; cell volume homeostasis; and response to osmotic stress. Localizes to the cell surface; ion channel complex; and plasma membrane. Implicated in agammaglobulinemia and agammaglobulinemia 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AGM5; FLJ10337; FLJ41617; KIAA1437; leucine rich repeat containing 8; leucine rich repeat containing 8 family member A; leucine rich repeat containing 8 family, member A; leucine-rich repeat containing 8 family member A; leucine-rich repeat-containing protein 8A; LRRC8; SWELL1; swelling protein 1; volume-regulated anion channel subunit LRRC8A
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl9128,882,112 - 128,918,039 (+)Ensembl
GRCh389128,882,112 - 128,918,042 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379131,644,391 - 131,680,318 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,684,268 - 130,720,136 (+)NCBINCBI36hg18NCBI36
Celera9102,296,285 - 102,332,152 (+)NCBI
Cytogenetic Map9q34.11NCBI
HuRef9101,252,498 - 101,288,005 (+)NCBIHuRef
CHM1_19131,795,371 - 131,831,304 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on LRRC8A
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1323279
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.