CLCN4

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]

Description

Chloride voltage-gated channel 4

Tissue specificity

Tissue enhanced (brain, retina, skeletal muscle, tongue)

Subcell location

Vesicles

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters

Chromosome

X (10156975 - 10237660)

Ensembl ID

ENSG00000073464  (ver. 103.38)

Orthologs

Mouse Clcn4: ENSMUSG00000000605

UniProt

P51793

neXtProt

NX_P51793

Human splice variants
Mouse splice variants

Protein structure