• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
KCNV2 (HGNC:19698) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
potassium voltage-gated channel modifier subfamily V member 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
Kv8.2
%HI
44.67(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.97(Read more about gnomAD LOEUF score)
Cytoband
9p24.2
Genomic Coordinates
GRCh37/hg19: chr9:2717510-2730037 NCBI Ensembl UCSC
GRCh38/hg38: chr9:2717510-2730037 NCBI Ensembl UCSC
MANE Select Transcript
NM_133497.4 ENST00000382082.4 (Read more about MANE Select)
Function
Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26136
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • cone dystrophy with supernormal rod response Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)