GenTIGS

Potassium inwardly rectifying channel subfamily J member 13 (KCNJ13) Associated conditions: 1. Leber congenital amaurosis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001172416.1	NP_001165887.1	NC_000002.12	(232765801..232776564, complement)	Reference GRCh38.p14 Primary Assembly	O60928
2	REVIEWED	NM_001172417.1	NP_001165888.1	NC_000002.12	(232765801..232776564, complement)	Reference GRCh38.p14 Primary Assembly	O60928
3	REVIEWED	NM_002242.4	NP_002233.2	NC_000002.12	(232765801..232776564, complement)	Reference GRCh38.p14 Primary Assembly	O60928

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 138 reference articles

Variant Information Potassium inwardly rectifying channel subfamily J member 13 (KCNJ13) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Potassium inwardly rectifying channel subfamily J member 13 (KCNJ13)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	inward rectifier potassium channel activity	Function	-
2	Homo sapiens	IMP	enables	inward rectifier potassium channel activity	Function	9620703 39951488
3	Homo sapiens	NAS	enables	inward rectifier potassium channel activity	Function	9738472
4	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
5	Homo sapiens	IDA	located_in	plasma membrane	Component	39951488
6	Homo sapiens	IEA	located_in	plasma membrane	Component	-
7	Homo sapiens	IEA	involved_in	monoatomic ion transport	Process	-
8	Homo sapiens	IEA	involved_in	potassium ion transport	Process	-
9	Homo sapiens	NAS	involved_in	potassium ion transport	Process	9738472
10	Homo sapiens	IEA	located_in	membrane	Component	-
11	Homo sapiens	IEA	involved_in	monoatomic ion transmembrane transport	Process	-
12	Homo sapiens	IEA	part_of	monoatomic ion channel complex	Component	-
13	Homo sapiens	IMP	involved_in	regulation of membrane potential	Process	9620703
14	Homo sapiens	IBA	involved_in	potassium ion import across plasma membrane	Process	-