KCNK9 |
- 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
- 0.98(Read more about gnomAD pLI score)
- LOEUF
- 0.4(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
ClinGen Curation ID:
CCID:007353
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:
- Birk-Barel syndrome Monarch
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)