GenTIGS

Potassium channel tetramerization domain containing 7 (KCTD7) Associated conditions: 1. Progressive myoclonic epilepsy 2. Neuronal ceroid lipofuscinosis

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_001167961.2	NP_001161433.1	NC_000007.14	(66628880..66643228)	Reference GRCh38.p14 Primary Assembly	Q96MP8
2	REVIEWED	NM_153033.5	NP_694578.1	NC_000007.14	(66628880..66643228)	Reference GRCh38.p14 Primary Assembly	Q96MP8

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 143 reference articles

Variant Information Potassium channel tetramerization domain containing 7 (KCTD7) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Potassium channel tetramerization domain containing 7 (KCTD7)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	22748208 32296183 38225382
2	Homo sapiens	IDA	located_in	cytoplasm	Component	22748208
3	Homo sapiens	IEA	located_in	cytosol	Component	-
4	Homo sapiens	TAS	located_in	cytosol	Component	-
5	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
6	Homo sapiens	IDA	located_in	plasma membrane	Component	22748208
7	Homo sapiens	IEA	located_in	plasma membrane	Component	-
8	Homo sapiens	IEA	involved_in	intracellular potassium ion homeostasis	Process	-
9	Homo sapiens	IEA	enables	identical protein binding	Function	-
10	Homo sapiens	IPI	enables	identical protein binding	Function	32296183
11	Homo sapiens	IEA	involved_in	protein homooligomerization	Process	-
12	Homo sapiens	IBA	involved_in	membrane hyperpolarization	Process	-
13	Homo sapiens	IEA	involved_in	membrane hyperpolarization	Process	-
14	Homo sapiens	IMP	involved_in	intracellular glutamate homeostasis	Process	27742667