Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57582
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium sodium-activated channel subfamily T member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNT1
Synonyms (NCBI Gene) Gene synonyms aliases	DEE14, EIEE14, ENFL5, KCa4.1, KNa1.1, SLACK, Slo2.2, bA100C15.2
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, e

Show/Hide all(64)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139076605	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs140367649	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs141281093	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs142424896	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs142756900	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs143355299	A>G	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs143536408	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143678590	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs144766991	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs147306623	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs147551342	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, initiator codon variant, coding sequence variant
rs199996353	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200173000	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Missense variant, coding sequence variant
rs200910140	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201156458	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201908490	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369983077	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370046449	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant, intron variant, genic upstream transcript variant, upstream transcript variant
rs370155559	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370521183	C>A,G,T	Likely-benign, pathogenic, likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs370580872	G>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371135108	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs374975940	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs397515403	G>A	Pathogenic	Missense variant, coding sequence variant
rs397515405	C>T	Pathogenic	Missense variant, coding sequence variant
rs397515406	T>C	Pathogenic	Missense variant, coding sequence variant
rs397515407	G>A	Pathogenic	Missense variant, coding sequence variant
rs545094921	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs558966732	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant, 5 prime UTR variant, synonymous variant
rs587777264	G>A	Pathogenic	Missense variant, coding sequence variant
rs747317425	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs752032951	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant
rs752453368	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs752514808	C>A,G,T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs757811625	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs761045901	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs769406687	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs773575309	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs774588571	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs780875110	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796214553	AG>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs797044544	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs866242631	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs886039397	T>C	Pathogenic	Coding sequence variant, missense variant
rs886041691	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs886044717	T>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1023136319	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518066	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519544	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057522914	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057522923	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057522978	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1060503696	T>G	Pathogenic	Coding sequence variant, missense variant
rs1064794752	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795013	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1193627908	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554771469	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554771476	C>G	Pathogenic	Coding sequence variant, missense variant
rs1554774322	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554774362	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554778082	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1564367605	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1588344733	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1588359968	G>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(73)

miRTarBase ID	miRNA	Experiments
MIRT1082467	hsa-miR-1343	CLIP-seq
MIRT1082468	hsa-miR-218	CLIP-seq
MIRT1082469	hsa-miR-219-2-3p	CLIP-seq
MIRT1082470	hsa-miR-2964a-3p	CLIP-seq
MIRT1082471	hsa-miR-3136-3p	CLIP-seq
MIRT1082472	hsa-miR-3186-3p	CLIP-seq
MIRT1082473	hsa-miR-342-3p	CLIP-seq
MIRT1082474	hsa-miR-3667-3p	CLIP-seq
MIRT1082475	hsa-miR-3929	CLIP-seq
MIRT1082476	hsa-miR-3977	CLIP-seq
MIRT1082477	hsa-miR-4268	CLIP-seq
MIRT1082478	hsa-miR-4283	CLIP-seq
MIRT1082479	hsa-miR-4419b	CLIP-seq
MIRT1082480	hsa-miR-4457	CLIP-seq
MIRT1082481	hsa-miR-4478	CLIP-seq
MIRT1082482	hsa-miR-4508	CLIP-seq
MIRT1082483	hsa-miR-4680-3p	CLIP-seq
MIRT1082484	hsa-miR-4691-5p	CLIP-seq
MIRT1082485	hsa-miR-485-5p	CLIP-seq
MIRT1082486	hsa-miR-513b	CLIP-seq
MIRT1082487	hsa-miR-636	CLIP-seq
MIRT1082488	hsa-miR-644	CLIP-seq
MIRT1082489	hsa-miR-663b	CLIP-seq
MIRT1082490	hsa-miR-744	CLIP-seq
MIRT1082468	hsa-miR-218	CLIP-seq
MIRT1082469	hsa-miR-219-2-3p	CLIP-seq
MIRT1082470	hsa-miR-2964a-3p	CLIP-seq
MIRT1082475	hsa-miR-3929	CLIP-seq
MIRT1082476	hsa-miR-3977	CLIP-seq
MIRT1082479	hsa-miR-4419b	CLIP-seq
MIRT1082480	hsa-miR-4457	CLIP-seq
MIRT1082481	hsa-miR-4478	CLIP-seq
MIRT1082483	hsa-miR-4680-3p	CLIP-seq
MIRT1082485	hsa-miR-485-5p	CLIP-seq
MIRT1082486	hsa-miR-513b	CLIP-seq
MIRT1082487	hsa-miR-636	CLIP-seq
MIRT1082468	hsa-miR-218	CLIP-seq
MIRT1082469	hsa-miR-219-2-3p	CLIP-seq
MIRT1082470	hsa-miR-2964a-3p	CLIP-seq
MIRT1082475	hsa-miR-3929	CLIP-seq
MIRT1082476	hsa-miR-3977	CLIP-seq
MIRT1082479	hsa-miR-4419b	CLIP-seq
MIRT1082480	hsa-miR-4457	CLIP-seq
MIRT1082481	hsa-miR-4478	CLIP-seq
MIRT1082483	hsa-miR-4680-3p	CLIP-seq
MIRT1082485	hsa-miR-485-5p	CLIP-seq
MIRT1082486	hsa-miR-513b	CLIP-seq
MIRT1082487	hsa-miR-636	CLIP-seq
MIRT1082468	hsa-miR-218	CLIP-seq
MIRT1082469	hsa-miR-219-2-3p	CLIP-seq
MIRT1082470	hsa-miR-2964a-3p	CLIP-seq
MIRT2020528	hsa-miR-361-3p	CLIP-seq
MIRT1082475	hsa-miR-3929	CLIP-seq
MIRT1082476	hsa-miR-3977	CLIP-seq
MIRT1082479	hsa-miR-4419b	CLIP-seq
MIRT1082480	hsa-miR-4457	CLIP-seq
MIRT1082481	hsa-miR-4478	CLIP-seq
MIRT1082483	hsa-miR-4680-3p	CLIP-seq
MIRT1082485	hsa-miR-485-5p	CLIP-seq
MIRT1082486	hsa-miR-513b	CLIP-seq
MIRT1082487	hsa-miR-636	CLIP-seq
MIRT1082468	hsa-miR-218	CLIP-seq
MIRT1082469	hsa-miR-219-2-3p	CLIP-seq
MIRT1082470	hsa-miR-2964a-3p	CLIP-seq
MIRT1082475	hsa-miR-3929	CLIP-seq
MIRT1082476	hsa-miR-3977	CLIP-seq
MIRT1082479	hsa-miR-4419b	CLIP-seq
MIRT1082480	hsa-miR-4457	CLIP-seq
MIRT1082481	hsa-miR-4478	CLIP-seq
MIRT1082483	hsa-miR-4680-3p	CLIP-seq
MIRT1082485	hsa-miR-485-5p	CLIP-seq
MIRT1082486	hsa-miR-513b	CLIP-seq
MIRT1082487	hsa-miR-636	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005228	Function	Intracellular sodium-activated potassium channel activity	IBA
GO:0005228	Function	Intracellular sodium-activated potassium channel activity	IDA	37494189
GO:0005228	Function	Intracellular sodium-activated potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IBA
GO:0015271	Function	Outward rectifier potassium channel activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051289	Process	Protein homotetramerization	IDA	37494189
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	37494189
GO:0071805	Process	Potassium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
608167	18865	ENSG00000107147

Protein

UniProt ID

Q5JUK3

Protein name

Potassium channel subfamily T member 1 (KCa4.1) (KNa1.1) (Sodium and chloride-activated ATP-sensitive potassium channel Slo2.2)

Protein function

Sodium-activated K(+) channel (PubMed:37494189). Acts as an important mediator of neuronal membrane excitability (PubMed:37494189). Contributes to the delayed outward currents (By similarity). Regulates neuronal bursting in sensory neurons (By s

PDB

8HIR , 8HK6 , 8HKF , 8HKK , 8HKM , 8HKQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07885	Ion_trans_2	253 → 335	Ion channel	Family
PF03493	BK_channel_a	477 → 579	Calcium-activated BK potassium channel alpha subunit	Family

Tissue specificity

TISSUE SPECIFICITY: Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle. {ECO:0000269|PubMed:10718198}.

Sequence

MARAKLPRSPSEGKAGPGGAPAGAAAPEEPHGLSPLLPARGGGSVGSDVGQRLPVEDFSL
DSSLSQVQVEFYVNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDP
ALGIGCWGCPKQNYSFNDSSSEINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSY
KGNIWEQIFRVSFVLEMINTLPFIITIFWPPLRNLFIPVFLNCWLAKHALENMINDFHRA
ILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENLSLLTSFYFCIVTFSTVGYGD
VTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSRHRAQTEKHVVLCVS
SLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKD
QDLMRAKMDNGEACFILSSRNEVDRTAADHQTILRAWAVKDFAPNCPLYVQILKPENKFH
VKFADHVVCEEECKYAMLALNCICPATSTLITLLVHTSRGQEGQESPEQWQRMYGRCSGN
EVYHIRMGDSKFFREYEGKSFTYAAFHAHKKYGVCLIGLKREDNKSILLNPGPRHILAAS
DTCFYINITKEENSAFIFKQEEKRKKRAFSGQGLHEGPARLPVHSIIASMGTVAMDLQGT
EHRPTQSGGGGGGSKLALPTENGSGSRRPSIAPVLELADSSALLPCDLLSDQSEDEVTPS
DDEGLSVVEYVKGYPPNSPYIGSSPTLCHLLPVKAPFCCLRLDKGCKHNSYEDAKAYGFK
NKLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDHHFLEAICCFPMVYYM
EGSVDNLDSLLQCGIIYADNLVVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITT
ELTHPSNMRFMQFRAKDSYSLALSKLEKRERENGSNLAFMFRLPFAAGRVFSISMLDTLL
YQSFVKDYMITITRLLLGLDTTPGSGYLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIG
IYRTESHVFSTSESQISVNVEDCEDTREVKGPWGSRAGTGGSSQGRHTGGGDPAEHPLLR
RKSLQWARRLSRKAPKQAGRAAAAEWISQQRLSLYRRSERQELSELVKNRMKHLGLPTTG
YEDVANLTASDVMNRVNLGYLQDEMNDHQNTLSYVLINPPPDTRLEPSDIVYLIRSDPLA
HVASSSQSRKSSCSHKLSSCNPETRDETQL

Sequence length

1230

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 14	rs886044717, rs1554774322, rs587777264, rs1564354299, rs1588344733, rs397515403, rs370521183, rs866242631, rs1057522978, rs397515405, rs886041691, rs397515407, rs1554778082	N/A
Nocturnal Epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy 5	rs587777264, rs797044544, rs1588385233, rs397515405, rs397515406, rs397515407, rs1554771469	N/A
malignant migrating partial seizures of infancy	Malignant migrating partial seizures of infancy	rs886041691, rs1057519544	N/A
seizure	Seizure	rs397515405	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Epilepsy	childhood-onset epilepsy syndrome, epilepsy	N/A	N/A	GenCC, ClinVar
Epileptic encephalopathy	epileptic encephalopathy	N/A	N/A	ClinVar
focal epilepsy	Focal epilepsy	N/A	N/A	ClinVar
Hydrocephalus	hydrocephalus	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (42)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arrhythmias Cardiac	Associate	26122718
Arterial calcification of infancy	Associate	31653631
Arteriovenous Fistula	Associate	31532509
Atherosclerosis	Associate	36457109
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Associate	24279416, 26122718, 26140313
Body Dysmorphic Disorders	Associate	26993267
Brain Diseases	Associate	24120652, 26140313, 29186148, 31350261
Brugada Syndrome	Associate	25339316
Cardiomyopathy Dilated	Associate	31532509
Congenital Abnormalities	Associate	37697770
Cyanosis	Associate	37697770
Death	Associate	35715422
Demyelinating Diseases	Associate	24120652
Depressive Disorder Treatment Resistant	Associate	31054119
Drug Resistant Epilepsy	Associate	26369628, 31560846, 31653631
Dystonia	Associate	31560846
Epilepsies Myoclonic	Associate	29314583, 31532509
Epilepsies Partial	Associate	26122718, 40261684
Epilepsy	Associate	24120652, 26369628, 26802095, 30847371, 30977854, 31054119, 31350261, 31532509, 31653631, 32167590, 34153113, 36279596, 36499459, 37095367, 37697770, 39950246, 40261684 View all (2 more)
Epilepsy Generalized	Associate	24279416
Epilepsy Nocturnal Frontal Lobe Type 1	Associate	26122718, 31653631
Epilepsy Partial Motor	Associate	32167590
Epileptic Encephalopathy Early Infantile 3	Associate	26140313, 37867425
Genetic Diseases Inborn	Associate	37697770
Heart Diseases	Associate	26122718
Hemangioma Cavernous Central Nervous System	Associate	31532509
Infantile Epileptic Dyskinetic Encephalopathy	Associate	26122718, 31560846
Leukoencephalopathies	Associate	24120652
Malformations of Cortical Development	Associate	30847371
Movement Disorders	Associate	31560846
Muscle Hypertonia	Associate	31532509
Nerve Degeneration	Associate	23599387
Neurologic Manifestations	Associate	36499459
Nocturnal Paroxysmal Dystonia	Associate	30847371, 31835056, 40261684
Psychotic Disorders	Associate	39950246
Seizures	Associate	24279416, 26122718, 26140313, 26369628, 29314583, 31350261, 31532509, 31618474, 31653631, 32167590, 35537242, 35715422, 36279596, 37697770, 40261684
Severe Acute Respiratory Syndrome	Associate	35715422
Spasms Infantile	Associate	23599387, 26140313
Status Epilepticus	Associate	31560846
Sudden Unexpected Death in Epilepsy	Associate	26122718
Syncope	Associate	25339316
Systolic Murmurs	Associate	37697770

KCNT1 (potassium sodium-activated channel subfamily T member 1)