ASIC4

This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]

Description

Acid sensing ion channel subunit family member 4

Tissue specificity

Group enriched (brain, pituitary gland, retina)

Subcell location

Golgi apparatus

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins

Chromosome

2 (219514170 - 219538772)

Ensembl ID

ENSG00000072182  (ver. 103.38)

Orthologs

Mouse Asic4: ENSMUSG00000033007

UniProt

Q96FT7

neXtProt

NX_Q96FT7

Human splice variants
Mouse splice variants

Protein structure