Potassium Channel, Inwardly Rectifying, Subfamily J, Member 13

Alternative Names

  • KCNJ13
  • Inwardly Rectifying Potassium Channel KIR7.1

Associated Diseases

Retinitis Pigmentosa
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OMIM Number

603208

NCBI Gene ID

3769

Uniprot ID

O60928

Length

10,764 bases

No. of Exons

3

No. of isoforms

2

Protein Name

Inward rectifier potassium channel 13

Molecular Mass

40530 Da

Amino Acid Count

360

Genomic Location

chr2:232,765,802-232,776,565

Gene Map Locus
2q37.1

Description

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.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002242.4:c.359T>CSaudi ArabiaNC_000002.12:g.232771004A>GLikely Pathogenic, PathogenicLikely PathogenicRetinitis PigmentosaNG_016742.1:g.10562T>C; NM_002242.4:c.359T>C; NP_002233.2:p.Ile120Thr786205550191155
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