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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	343450
Gene name	Potassium sodium-activated channel subfamily T member 2
Gene symbol	KCNT2
Synonyms (NCBI Gene)	DEE57EIEE57KCa4.2KNa1.2SLICKSLO2.1
Chromosome	1
Chromosome location	1q31.3

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1060499537	A>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1572096837	T>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1572418357	G>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1572547466	C>T	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1572630269	TA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017687	hsa-miR-335-5p	Microarray	18185580
MIRT663128	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT663127	hsa-miR-4775	HITS-CLIP	23824327
MIRT663126	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT663125	hsa-miR-4452	HITS-CLIP	23824327
MIRT663124	hsa-miR-1305	HITS-CLIP	23824327
MIRT663123	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT663128	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT663127	hsa-miR-4775	HITS-CLIP	23824327
MIRT663126	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT663125	hsa-miR-4452	HITS-CLIP	23824327
MIRT663124	hsa-miR-1305	HITS-CLIP	23824327
MIRT663123	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1082491	hsa-miR-1321	CLIP-seq
MIRT1082492	hsa-miR-186	CLIP-seq
MIRT1082493	hsa-miR-1911	CLIP-seq
MIRT1082494	hsa-miR-3133	CLIP-seq
MIRT1082495	hsa-miR-3149	CLIP-seq
MIRT1082496	hsa-miR-3162-5p	CLIP-seq
MIRT1082497	hsa-miR-3616-5p	CLIP-seq
MIRT1082498	hsa-miR-3647-5p	CLIP-seq
MIRT1082499	hsa-miR-369-3p	CLIP-seq
MIRT1082500	hsa-miR-374a	CLIP-seq
MIRT1082501	hsa-miR-374b	CLIP-seq
MIRT1082502	hsa-miR-425	CLIP-seq
MIRT1082503	hsa-miR-4517	CLIP-seq
MIRT1082504	hsa-miR-4662a-3p	CLIP-seq
MIRT1082505	hsa-miR-4711-3p	CLIP-seq
MIRT1082506	hsa-miR-4739	CLIP-seq
MIRT1082507	hsa-miR-4756-5p	CLIP-seq
MIRT1082508	hsa-miR-4795-5p	CLIP-seq
MIRT1082509	hsa-miR-487b	CLIP-seq
MIRT1082510	hsa-miR-513a-3p	CLIP-seq
MIRT1082511	hsa-miR-573	CLIP-seq
MIRT1082512	hsa-miR-577	CLIP-seq
MIRT1082513	hsa-miR-633	CLIP-seq
MIRT1082514	hsa-miR-642b	CLIP-seq
MIRT1082515	hsa-miR-759	CLIP-seq
MIRT2020529	hsa-miR-1182	CLIP-seq
MIRT2020530	hsa-miR-2909	CLIP-seq
MIRT2020531	hsa-miR-4278	CLIP-seq
MIRT2020532	hsa-miR-4729	CLIP-seq
MIRT2020533	hsa-miR-593	CLIP-seq
MIRT2020529	hsa-miR-1182	CLIP-seq
MIRT2252251	hsa-miR-1587	CLIP-seq
MIRT2252252	hsa-miR-205	CLIP-seq
MIRT2020530	hsa-miR-2909	CLIP-seq
MIRT2252253	hsa-miR-3671	CLIP-seq
MIRT2020531	hsa-miR-4278	CLIP-seq
MIRT2252254	hsa-miR-4325	CLIP-seq
MIRT2252255	hsa-miR-4328	CLIP-seq
MIRT2252256	hsa-miR-4674	CLIP-seq
MIRT2020533	hsa-miR-593	CLIP-seq
MIRT2252257	hsa-miR-607	CLIP-seq
MIRT2252258	hsa-miR-624	CLIP-seq
MIRT2020529	hsa-miR-1182	CLIP-seq
MIRT2020530	hsa-miR-2909	CLIP-seq
MIRT2020531	hsa-miR-4278	CLIP-seq
MIRT2020533	hsa-miR-593	CLIP-seq
MIRT1082510	hsa-miR-513a-3p	CLIP-seq
MIRT1082495	hsa-miR-3149	CLIP-seq
MIRT2555581	hsa-miR-4282	CLIP-seq
MIRT2555582	hsa-miR-4422	CLIP-seq
MIRT2555583	hsa-miR-4509	CLIP-seq
MIRT2555584	hsa-miR-4744	CLIP-seq
MIRT2555585	hsa-miR-4799-5p	CLIP-seq
MIRT2555586	hsa-miR-630	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	14684870
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	IDA	29069600
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0070089	Function	Chloride-activated potassium channel activity	IDA	14684870
GO:0070089	Function	Chloride-activated potassium channel activity	IMP	29069600
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	14684870
GO:0097623	Process	Potassium ion export across plasma membrane	IMP	29069600

MIM	HGNC	e!Ensembl
610044	18866	ENSG00000162687

Q6UVM3

Protein name

Potassium channel subfamily T member 2 (KNa1.2) (Sequence like an intermediate conductance potassium channel subunit) (Sodium and chloride-activated ATP-sensitive potassium channel Slo2.1)

Protein function

Sodium-activated and chloride-activated potassium channel (PubMed:14684870, PubMed:16687497, PubMed:25214519, PubMed:27682982, PubMed:29069600, PubMed:29740868). Produces rapidly activating outward rectifier K(+) currents (PubMed:14684870). Cont

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07885	Ion_trans_2	199 → 282	Ion channel	Family
PF03493	BK_channel_a	424 → 526	Calcium-activated BK potassium channel alpha subunit	Family

Sequence

MVDLESEVPPLPPRYRFRDLLLGDQGWQNDDRVQVEFYMNENTFKERLKLFFIKNQRSSL
RIRLFNFSLKLLSCLLYIIRVLLENPSQGNEWSHIFWVNRSLPLWGLQVSVALISLFETI
LLGYLSYKGNIWEQILRIPFILEIINAVPFIISIFWPSLRNLFVPVFLNCWLAKHALENM
INDLHRAIQRTQSAMFNQVLILISTLLCLIFTCICGIQHLERIGKKLNLFDSLYFCIVTF
STVGFGDVTPETWSSKLFVVAMICVALVVLPIQFEQLAYLWMERQKSGGNYSRHRAQTEK
HVVLCVSSLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPMWSQRVIYL
QGSALKDQDLLRAKMDDAEACFILSSRCEVDRTSSDHQTILRAWAVKDFAPNCPLYVQIL
KPENKFHIKFADHVVCEEEFKYAMLALNCICPATSTLITLLVHTSRGQEGQQSPEQWQKM
YGRCSGNEVYHIVLEESTFFAEYEGKSFTYASFHAHKKFGVCLIGVRREDNKNILLNPGP
RYIMNSTDICFYINITKEENSAFKNQDQQRKSNVSRSFYHGPSRLPVHSIIASMGTVAID
LQDTSCRSASGPTLSLPTEGSKEIRRPSIAPVLEVADTSSIQTCDLLSDQSEDETTPDEE
MSSNLEYAKGYPPYSPYIGSSPTFCHLLHEKVPFCCLRLDKSCQHNYYEDAKAYGFKNKL
IIVAAETAGNGLYNFIVPLRAYYRPKKELNPIVLLLDNPPDMHFLDAICWFPMVYYMVGS
IDNLDDLLRCGVTFAANMVVVDKESTMSAEEDYMADAKTIVNVQTLFRLFSSLSIITELT
HPANMRFMQFRAKDCYSLALSKLEKKERERGSNLAFMFRLPFAAGRVFSISMLDTLLYQS
FVKDYMISITRLLLGLDTTPGSGFLCSMKITADDLWIRTYARLYQKLCSSTGDVPIGIYR
TESQKLTTSESQISISVEEWEDTKDSKEQGHHRSNHRNSTSSDQSDHPLLRRKSMQWARR
LSRKGPKHSGKTAEKITQQRLNLYRRSERQELAELVKNRMKHLGLSTVGYDEMNDHQSTL
SYILINPSPDTRIELNDVVYLIRPDPLAYLPNSEPSRRNSICNVTGQDSREETQL

Sequence length

1135

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 57	Likely pathogenic; Pathogenic	rs2148151806, rs2147978696, rs2148529666, rs2148537524, rs528303127, rs2527041400, rs2527113758, rs1060499537, rs2528170263, rs1572096837, rs1572630269, rs1572547466	RCV001533420 RCV001775433 RCV002226823 RCV002249085 RCV002291167 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KCNT2-related disorder	Likely pathogenic; Pathogenic	rs895837661, rs1060499537	RCV001824201 RCV000477662	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1572096837, rs1572630269	RCV000857309 RCV000857310	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	23326517, 23577725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical absence seizure	Absence Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29069600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	29740868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	29069600, 29740868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57	Epileptic encephalopathy	UNIPROT_DG	29069600		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	29740868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	29740868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	31557882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	29740868		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNT2 (potassium sodium-activated channel subfamily T member 2)