Tissue expression of LRRC8A - Summary - The Human Protein Atlas

GENERAL INFORMATION
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

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	LRRC8A (HGNC Symbol)
Synonyms	FLJ10337, KIAA1437, LRRC8, SWELL1
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 83.38)
Entrez gene	56262
UniProt	Q8IWT6 (UniProt - Evidence at protein level)
neXtProt	NX_Q8IWT6
Antibodypedia	LRRC8A antibodies

PROTEIN BROWSER

LRRC8A-001	LRRC8A-002	LRRC8A-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
LRRC8A-001 ENSP00000361682 ENST00000372600	Q8IWT6 [Direct mapping] Volume-regulated anion channel subunit LRRC8A A0A024R892 [Target identity:100%; Query identity:100%] Leucine rich repeat containing 8 family, member A, isoform CRA_a Show all	Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0002329 [pre-B cell differentiation] GO:0005253 [anion channel activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0006820 [anion transport] GO:0006884 [cell volume homeostasis] GO:0006970 [response to osmotic stress] GO:0009986 [cell surface] GO:0016020 [membrane] GO:0034702 [ion channel complex] GO:0098656 [anion transmembrane transport] Show all	810 aa 94.2 kDa	No	4
LRRC8A-002 ENSP00000361680 ENST00000372599	Q8IWT6 [Direct mapping] Volume-regulated anion channel subunit LRRC8A A0A024R892 [Target identity:100%; Query identity:100%] Leucine rich repeat containing 8 family, member A, isoform CRA_a Show all	Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0002329 [pre-B cell differentiation] GO:0005253 [anion channel activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0006820 [anion transport] GO:0006884 [cell volume homeostasis] GO:0006970 [response to osmotic stress] GO:0009986 [cell surface] GO:0016020 [membrane] GO:0034702 [ion channel complex] GO:0098656 [anion transmembrane transport] Show all	810 aa 94.2 kDa	No	4
LRRC8A-201 ENSP00000259324 ENST00000259324	Q8IWT6 [Direct mapping] Volume-regulated anion channel subunit LRRC8A A0A024R892 [Target identity:100%; Query identity:100%] Leucine rich repeat containing 8 family, member A, isoform CRA_a Show all	Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0002329 [pre-B cell differentiation] GO:0005253 [anion channel activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0006820 [anion transport] GO:0006884 [cell volume homeostasis] GO:0006970 [response to osmotic stress] GO:0009986 [cell surface] GO:0016020 [membrane] GO:0034702 [ion channel complex] GO:0098656 [anion transmembrane transport] Show all	810 aa 94.2 kDa	No	4