1. Gene
  2. LRRC8B - leucine rich repeat containing 8 VRAC subunit B Gene

LRRC8B - leucine rich repeat containing 8 VRAC subunit B Gene

Homo sapiens

Also known as TALRRP; TA-LRRP

Gene ID: 23507 | Gene type: protein coding

About LRRC8B

Cytogenetic location: 1p22.2 Genomic coordinates (GRCh38): 1:89,524,338-89,597,861 (from NCBI)

This gene has 5 transcripts (splice variants), 133 orthologues and 31 paralogues. Broad expression in brain (RPKM 8.6), adrenal (RPKM 5.3) and 25 other tissues.

Summary

Contributes to volume-sensitive anion channel activity. Involved in anion transmembrane transport. Located in cytoplasm and plasma membrane. Is integral component of plasma membrane. Part of ion channel complex. [provided by Alliance of Genome Resources, Apr 2022]

LRRC8B Products(4)

mRNA Protein Name
NM_001134476.2 NP_001127948.1 volume-regulated anion channel subunit LRRC8B
NM_001369817.2 NP_001356746.1 volume-regulated anion channel subunit LRRC8B
NM_001369819.2 NP_001356748.1 volume-regulated anion channel subunit LRRC8B
NM_015350.4 NP_056165.1 volume-regulated anion channel subunit LRRC8B
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
24790029 GOA
contributes to volume-sensitive anion channel activity IMP
IMP: Inferred from mutant phenotype
28193731 GOA
Biological Process GO Annotation Evidence Reference Source
involved in monoatomic anion transmembrane transport IMP
IMP: Inferred from mutant phenotype
24790029 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
24790029 GOA
part of monoatomic ion channel complex IMP
IMP: Inferred from mutant phenotype
28193731 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
24790029 GOA
located in plasma membrane IMP
IMP: Inferred from mutant phenotype
28193731 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

LRRC8B Protein Structure

Pannexin_like

Pannexin_like: Pannexin-like TM region of LRRC8 (1 - 66)

Pannexin_like

Pannexin_like: Pannexin-like TM region of LRRC8 (94 - 152)

LRR_8

LRR_8: Leucine rich repeat (487 - 545)

LRR_8

LRR_8: Leucine rich repeat (586 - 645)

(656 - 672)

LRR_8

LRR_8: Leucine rich repeat (680 - 737)

LRR_1

LRR_1: Leucine Rich Repeat (749 - 770)

  • 0
  • 200
  • 400
  • 600
  • 803 a.a.
Protein Preferred Names Protein Names

volume-regulated anion channel subunit LRRC8B

T-cell activation leucine repeat-rich protein

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 44

SCA44

Cornelia De Lange Syndrome 1

De Lange Syndrome

CDLS1

Cdl

Cdls

Typus Degenerativus Amstelodamensis

Brachmann-De Lange Syndrome

Bdls

Amstelodamensis Typus Degenerativus

Cornelia De Lange Syndrome, Type 1

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus LRRC8B RGD RGD:1563429
Canis familiaris LRRC8B VGNC VGNC:42815
Mus musculus LRRC8B MGD MGI:2141353
Macaca mulatta LRRC8B VGNC VGNC:81439
Bos taurus LRRC8B VGNC VGNC:31030