Seroatlas · Human Serome Atlas

LRRC8A

Volume-regulated anion channel subunit LRRC8A

Also known as: FLJ10337, KIAA1437, LRC8A_HUMAN, LRRC8, SWELL1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8IWT6
Gene
LRRC8A
Ensembl
ENSG00000136802
Chromosome
9
Canonical length
810 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters
Quaternary structure
Homohexamer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

810 residues, UniProt reviewed canonical sequence.

>Q8IWT6|LRRC8A
     1  MIPVTELRYF ADTQPAYRIL KPWWDVFTDY ISIVMLMIAV FGGTLQVTQD KMICLPCKWV
    61  TKDSCNDSFR GWAAPGPEPT YPNSTILPTP DTGPTGIKYD LDRHQYNYVD AVCYENRLHW
   121  FAKYFPYLVL LHTLIFLACS NFWFKFPRTS SKLEHFVSIL LKCFDSPWTT RALSETVVEE
   181  SDPKPAFSKM NGSMDKKSST VSEDVEATVP MLQRTKSRIE QGIVDRSETG VLDKKEGEQA
   241  KALFEKVKKF RTHVEEGDIV YRLYMRQTII KVIKFILIIC YTVYYVHNIK FDVDCTVDIE
   301  SLTGYRTYRC AHPLATLFKI LASFYISLVI FYGLICMYTL WWMLRRSLKK YSFESIREES
   361  SYSDIPDVKN DFAFMLHLID QYDPLYSKRF AVFLSEVSEN KLRQLNLNNE WTLDKLRQRL
   421  TKNAQDKLEL HLFMLSGIPD TVFDLVELEV LKLELIPDVT IPPSIAQLTG LKELWLYHTA
   481  AKIEAPALAF LRENLRALHI KFTDIKEIPL WIYSLKTLEE LHLTGNLSAE NNRYIVIDGL
   541  RELKRLKVLR LKSNLSKLPQ VVTDVGVHLQ KLSINNEGTK LIVLNSLKKM ANLTELELIR
   601  CDLERIPHSI FSLHNLQEID LKDNNLKTIE EIISFQHLHR LTCLKLWYNH IAYIPIQIGN
   661  LTNLERLYLN RNKIEKIPTQ LFYCRKLRYL DLSHNNLTFL PADIGLLQNL QNLAITANRI
   721  ETLPPELFQC RKLRALHLGN NVLQSLPSRV GELTNLTQIE LRGNRLECLP VELGECPLLK
   781  RSGLVVEEDL FNTLPPEVKE RLWRADKEQA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LRRC8A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
74 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 74 nTPM
  • esophagus: 69 nTPM
  • cerebral cortex: 62 nTPM
  • basal ganglia: 53 nTPM
  • cerebellum: 53 nTPM
  • midbrain: 49 nTPM

Single-cell type

  • esophageal apical cells: 350 nCPM
  • esophageal suprabasal cells: 295 nCPM
  • ocular epithelial cells: 254 nCPM
  • bergmann glia: 231 nCPM
  • prostatic hillock cells: 216 nCPM
  • esophageal basal cells: 180 nCPM

Immune cell

  • gdT-cell: 3.9 nTPM
  • NK-cell: 3.5 nTPM
  • T-reg: 3.5 nTPM
  • memory CD8 T-cell: 2.5 nTPM
  • eosinophil: 1.9 nTPM
  • memory CD4 T-cell: 1.9 nTPM

Brain region

  • thalamus: 140 nTPM
  • midbrain: 129 nTPM
  • medulla oblongata: 128 nTPM
  • basal ganglia: 109 nTPM
  • cerebellum: 109 nTPM
  • pons: 109 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LRRC8A.

Disease | AllUniProt

Conditions LRRC8A is implicated in, by any mechanism.

  • Agammaglobulinemia 5, autosomal dominant (AGM5) MIM:613506

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.35
gnomAD pLI
0.94
gnomAD missense Z
3.38
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LRRC8A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LRRC8A as an antibody target. Whether an autoantibody or antibody against LRRC8A could matter depends on whether native LRRC8A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LRRC8A is annotated at the cell surface, where native LRRC8A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label LRRC8A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LRRC8A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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