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KCNK12 |
Gene Facts External Data Attribution
- HGNC Symbol
- KCNK12 (HGNC:6274) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- potassium two pore domain channel subfamily K member 12
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- THIK-2, THIK2, K2p12.1
- %HI
- 40.81(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.16(Read more about gnomAD pLI score)
- LOEUF
- 0.92(Read more about gnomAD LOEUF score)
- Cytoband
- 2p16.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:47736429-47798124 NCBI Ensembl UCSC GRCh38/hg38: chr2:47509290-47570985 NCBI Ensembl UCSC - MANE Select Transcript
- NM_022055.2 ENST00000327876.5 (Read more about MANE Select)
- Function
- Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel (By similarity). {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6190
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
