LRRC8A

GENERAL INFORMATION

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Gene name

LRRC8A

Gene description

Leucine rich repeat containing 8 family, member A

Protein class

Disease related genes
Plasma proteins
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Normal tissues generally displayed moderate cytoplasmic and occasional membranous staining. Parts of the intestine, cells in the adrenal gland, subtypes of neuronal cells in CNS and megakaryocytes of bone marrow were strongly stained. Renal proximal tubules displayed distinct staining in luminal membranes.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA016811
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Lung

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

LRRC8A (HGNC Symbol)

Synonyms

FLJ10337, KIAA1437, LRRC8

Description

Leucine rich repeat containing 8 family, member A (HGNC Symbol)

Entrez gene 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]

Chromosome

9

Cytoband

q34.11

Chromosome location (bp)

128882112 - 128918039

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000136802 (version 78.38)

Entrez gene

56262

UniProt

Q8IWT6 (UniProt - Evidence at protein level)

neXtProt

NX_Q8IWT6

Antibodypedia

LRRC8A antibodies


PROTEIN BROWSER

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ENST00000259324
 
ENST00000372599
 
ENST00000372600
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

LRRC8A-001 ENSP00000361682
ENST00000372600
Q8IWT6
Show all »
Show » Show » 810 94.2 No 4
LRRC8A-002 ENSP00000361680
ENST00000372599
Q8IWT6
Show all »
Show » Show » 810 94.2 No 4
LRRC8A-201 ENSP00000259324
ENST00000259324
Q8IWT6
Show all »
Show » Show » 810 94.2 No 4