• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
KCNK9 (HGNC:6283) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
potassium two pore domain channel subfamily K member 9
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
K2p9.1, TASK3, TASK-3
%HI
43.67(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.96(Read more about gnomAD pLI score)
LOEUF
0.31(Read more about gnomAD LOEUF score)
Cytoband
8q24.3
Genomic Coordinates
GRCh37/hg19: chr8:140613081-140715366 NCBI Ensembl UCSC
GRCh38/hg38: chr8:139600838-139703123 NCBI Ensembl UCSC
MANE Select Transcript
NM_001282534.2 ENST00000520439.3 (Read more about MANE Select)
Function
pH-dependent, voltage-insensitive, background potassium channel protein. {ECO:0000269|PubMed:11042359, ECO:0000269|PubMed:11431495, ECO:0000269|PubMed:23169818}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23750
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/29/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence Comments:
Barel (2008), PMID: 18678320. A single report of a dominant gain-of-function missense mutation in this potassium channel gene causing maternally inherited Birk Barel mental retardation dysmorphism syndrome. The single mutation described in the report is a gain-of-function mutation that affects structural integrity of the potassium channel (dominant negative effect). Does not qualify as a loss of function mutation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)