KCNJ13

potassium inwardly rectifying channel subfamily J member 13

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000115474
UniProt:
O60928
OMIM:
603208
Synonyms:
KIR1.4, KIR7.1, LCA16

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
hemorrhage, abnormal embryo size, preweaning lethality, complete penetrance, cleft palate
Human ciliopathy phenotype:
Leber congenital amaurosis 16; snowflake vitreoretinal degeneration; Leber congenital amaurosis

Ciliopathy associations

  • Leber Congenital Amaurosis

References: PMID:25921210, PMID:21763485

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations are associated with the human retinal dystrophies LCA and Snowflake Vitreoretinal Degeneration (30009826).