KCNJ1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- KCNJ1 (HGNC:6255) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- potassium inwardly rectifying channel subfamily J member 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- Kir1.1, ROMK1
- %HI
- 21.79(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.29(Read more about gnomAD LOEUF score)
- Cytoband
- 11q24.3
- Genomic Coordinates
-
GRCh37/hg19: chr11:128707915-128737191 NCBI Ensembl UCSC GRCh38/hg38: chr11:128838020-128867296 NCBI Ensembl UCSC - MANE Select Transcript
- NM_153766.3 ENST00000392666.6 (Read more about MANE Select)
- Function
- In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-16333
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/22/2012
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Bartter disease type 2 Monarch
HI Evidence Comments:
Homozygous loss of function mutations in KCNJ1 cause the autosomal recessive condition antenatal Bartter syndrome, type 2.
Tyson et al, 2008, PMID: 19000322 report two patients with intellectual disability who have large deletions that include KCNJ1. One patient also has a large duplication of 11q24.2q25 material. All imbalances were de novo. The deletions included many other genes. The authors compare phenotypes to Jacobsen syndrome.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)