lrrc8ab

ID

ZDB-GENE-060531-43

Name

leucine rich repeat containing 8 VRAC subunit Ab

Symbol

lrrc8ab Nomenclature History

Previous Names

si:ch211-236k19.7

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable volume-sensitive anion channel activity. Predicted to be involved in aspartate transmembrane transport; cyclic-GMP-AMP transmembrane import across plasma membrane; and monoatomic anion transmembrane transport. Predicted to be part of monoatomic ion channel complex. Predicted to be active in cytoplasm and plasma membrane. Is expressed in head; heart tube; otic vesicle; pectoral fin bud; and ventricular system. Human ortholog(s) of this gene implicated in agammaglobulinemia and agammaglobulinemia 5. Orthologous to human LRRC8A (leucine rich repeat containing 8 VRAC subunit A).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Tseng et al., 2020

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from Tseng et al., 2020
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With lrrc8ab Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
agammaglobulinemia 5	Alliance	?Agammaglobulinemia 5	613506

Associated With lrrc8ab Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR021040	LRRC8, pannexin-like TM region
Family	IPR050216	Leucine-rich repeat domain-containing protein
Homologous_superfamily	IPR032675	Leucine-rich repeat domain superfamily
Repeat	IPR001611	Leucine-rich repeat
Repeat	IPR003591	Leucine-rich repeat, typical subtype