KCNJ13

This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

Description

Potassium inwardly rectifying channel subfamily J member 13

Tissue specificity

Group enriched (choroid plexus, intestine)

Subcell location

Nuclear membrane

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
Voltage-gated ion channels

Chromosome

2 (232765802 - 232776565)

Ensembl ID

ENSG00000115474  (ver. 103.38)

Orthologs

Mouse Kcnj13: ENSMUSG00000079436

UniProt

O60928

neXtProt

NX_O60928

Human splice variants
Mouse splice variants

Protein structure