KCNN4 (potassium calcium-activated channel subfamily N member 4) - Rat Genome Database

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Gene: KCNN4 (potassium calcium-activated channel subfamily N member 4) Homo sapiens
Analyze
Symbol: KCNN4
Name: potassium calcium-activated channel subfamily N member 4
RGD ID: 732698
HGNC Page HGNC:6293
Description: Enables calcium-activated potassium channel activity and protein phosphatase binding activity. Involved in calcium ion transport; positive regulation of T cell receptor signaling pathway; and stabilization of membrane potential. Located in cytosol; plasma membrane; and vesicle. Implicated in angiosarcoma; cerebral infarction; dehydrated hereditary stomatocytosis 2; and myocardial infarction. Biomarker of angiosarcoma; brain edema; hypertension; and pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DHS2; hIKCa1; hKCa4; hSK4; IK; IK1; IKCA1; intermediate conductance calcium-activated potassium channel protein 4; intermediate-conductance Ca2+-activated K+ channel, KCa3.1; KCa3.1; KCA4; potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4; potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4; putative erythrocyte intermediate conductance calcium-activated potassium Gardos channel; putative Gardos channel; SK4; SKCa 4; SKCa4; small conductance calcium-activated potassium channel 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381943,766,533 - 43,780,973 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1943,766,533 - 43,780,976 (-)EnsemblGRCh38hg38GRCh38
GRCh371944,270,685 - 44,285,125 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361948,962,525 - 48,977,249 (-)NCBINCBI36Build 36hg18NCBI36
Build 341948,962,524 - 48,977,249NCBI
Celera1941,074,253 - 41,088,976 (-)NCBICelera
Cytogenetic Map19q13.31NCBI
HuRef1940,702,891 - 40,717,615 (-)NCBIHuRef
CHM1_11944,272,786 - 44,287,492 (-)NCBICHM1_1
T2T-CHM13v2.01946,589,266 - 46,619,926 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
4-aminopyridine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetohydrazide  (ISO)
acetylcysteine  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP,ISO)
aurantio-obtusin  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
Calcimycin  (ISO)
calciol  (ISO)
calcium atom  (EXP)
calcium(0)  (EXP)
candesartan  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlorzoxazone  (EXP)
choline  (ISO)
cisplatin  (EXP)
clotrimazole  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (ISO)
dexamethasone  (ISO)
diethylstilbestrol  (ISO)
disodium selenite  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
flurbiprofen  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indometacin  (ISO)
insulin  (ISO)
inulin  (ISO)
ionomycin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lidocaine  (ISO)
lithium chloride  (EXP)
menadione  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
monocrotaline  (ISO)
N,N-diethyl-m-toluamide  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentanal  (EXP)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
pirinixic acid  (ISO)
potassium atom  (EXP)
progesterone  (EXP)
propanal  (EXP)
protein kinase inhibitor  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
S-allylcysteine  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
tamoxifen  (EXP)
telmisartan  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraethylammonium  (EXP)
thapsigargin  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
TRAM-34  (EXP)
trichloroethene  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
Zoxazolamine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
calcium ion transport  (IDA)
cardiac muscle hypertrophy  (ISO)
cell volume homeostasis  (IEA,ISO)
cellular response to hypoxia  (ISO)
defense response  (TAS)
establishment of localization in cell  (IEA,ISO)
hepatocyte apoptotic process  (ISO)
immune system process  (IEA)
monoatomic anion transport  (ISO)
monoatomic ion transmembrane transport  (IEA)
monoatomic ion transport  (IEA)
mononuclear cell migration  (ISO)
negative regulation of cardiac muscle hypertrophy  (ISO)
negative regulation of cell volume  (ISO)
negative regulation of hepatic stellate cell proliferation  (ISO)
phospholipid translocation  (IEA,ISO)
positive regulation of G0 to G1 transition  (ISO)
positive regulation of microglial cell activation  (ISO)
positive regulation of p38MAPK cascade  (ISO)
positive regulation of potassium ion transmembrane transport  (TAS)
positive regulation of protein secretion  (IEA,ISO)
positive regulation of smooth muscle cell proliferation  (ISO)
positive regulation of T cell receptor signaling pathway  (IDA)
potassium ion export across plasma membrane  (ISO)
potassium ion transmembrane transport  (IBA,IEA)
potassium ion transport  (IEA,ISO,TAS)
regulation of angiotensin levels in blood  (ISO)
regulation of monocyte chemotactic protein-1 production  (ISO)
regulation of renin secretion into blood stream  (ISO)
regulation of smooth muscle cell proliferation  (ISO)
regulation of tumor necrosis factor production  (ISO)
response to hypoxia  (ISO)
response to insulin  (ISO)
response to tetrachloromethane  (ISO)
saliva secretion  (IEA,ISO)
stabilization of membrane potential  (IDA)
vascular associated smooth muscle cell migration  (ISO)
vascular associated smooth muscle cell proliferation  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal blood potassium concentration  (IAGP)
Abnormality of the liver  (IAGP)
Absent vas deferens  (IAGP)
Acanthocytosis  (IAGP)
Airway obstruction  (IAGP)
Anemia of inadequate production  (IAGP)
Anisopoikilocytosis  (IAGP)
Anxiety  (IAGP)
Asthma  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bite cells  (IAGP)
Bronchiectasis  (IAGP)
Childhood onset  (IAGP)
Cholelithiasis  (IAGP)
Cirrhosis  (IAGP)
Congenital hemolytic anemia  (IAGP)
Congenital onset  (IAGP)
Decreased body mass index  (IAGP)
Depression  (IAGP)
Edema  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated sweat chloride  (IAGP)
Episodic fatigue  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Failure to thrive  (IAGP)
Gastroesophageal reflux  (IAGP)
Hearing impairment  (IAGP)
Hemolytic anemia  (IAGP)
Hemoptysis  (IAGP)
Hepatomegaly  (IAGP)
Hyperbilirubinemia  (IAGP)
Hypochromia  (IAGP)
Increased circulating ferritin concentration  (IAGP)
Increased circulating hemoglobin concentration  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased mean corpuscular hemoglobin concentration  (IAGP)
Increased mean corpuscular volume  (IAGP)
Increased red cell osmotic fragility  (IAGP)
Increased total bilirubin  (IAGP)
Infantile onset  (IAGP)
Intermittent jaundice  (IAGP)
Jaundice  (IAGP)
Macrocytic anemia  (IAGP)
Malabsorption  (IAGP)
Male infertility  (IAGP)
Meconium ileus  (IAGP)
Myocardial infarction  (IAGP)
Nasal polyposis  (IAGP)
Neonatal hyperbilirubinemia  (IAGP)
Nephrolithiasis  (IAGP)
Nonspherocytic hemolytic anemia  (IAGP)
Nontuberculous mycobacterial pulmonary infection  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Pneumothorax  (IAGP)
Polycythemia  (IAGP)
Portal vein thrombosis  (IAGP)
Pulmonary venous hypertension  (IAGP)
Rectal prolapse  (IAGP)
Recurrent Aspergillus infections  (IAGP)
Recurrent Burkholderia cepacia infections  (IAGP)
Recurrent Haemophilus influenzae infections  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent Staphylococcus aureus infections  (IAGP)
Reduced forced expiratory volume in one second  (IAGP)
Reticulocytosis  (IAGP)
Schistocytosis  (IAGP)
Schizophrenia  (IAGP)
Sinusitis  (IAGP)
Splenomegaly  (IAGP)
Steatorrhea  (IAGP)
Thrombocytosis  (IAGP)
Thromboembolism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Small-conductance Ca2+-activated K+ channels: form and function. Adelman JP, etal., Annu Rev Physiol. 2012;74:245-69. doi: 10.1146/annurev-physiol-020911-153336. Epub 2011 Sep 19.
2. miR-497-5p inhibits cell proliferation and invasion by targeting KCa3.1 in angiosarcoma. Chen Y, etal., Oncotarget. 2016 Sep 6;7(36):58148-58161. doi: 10.18632/oncotarget.11252.
3. The KCa3.1 blocker TRAM-34 reduces infarction and neurological deficit in a rat model of ischemia/reperfusion stroke. Chen YJ, etal., J Cereb Blood Flow Metab. 2011 Dec;31(12):2363-74. doi: 10.1038/jcbfm.2011.101. Epub 2011 Jul 13.
4. The potassium channel KCa3.1 constitutes a pharmacological target for neuroinflammation associated with ischemia/reperfusion stroke. Chen YJ, etal., J Cereb Blood Flow Metab. 2016 Dec;36(12):2146-2161. doi: 10.1177/0271678X15611434. Epub 2015 Nov 2.
5. The Ca²⁺-activated K⁺ channel KCa3.1 as a potential new target for the prevention of allograft vasculopathy. Chen YJ, etal., PLoS One. 2013 Nov 29;8(11):e81006. doi: 10.1371/journal.pone.0081006. eCollection 2013.
6. Blood-brain barrier KCa3.1 channels: evidence for a role in brain Na uptake and edema in ischemic stroke. Chen YJ, etal., Stroke. 2015 Jan;46(1):237-44. doi: 10.1161/STROKEAHA.114.007445. Epub 2014 Dec 4.
7. NADPH oxidase 2-derived superoxide downregulates endothelial KCa3.1 in preeclampsia. Choi S, etal., Free Radic Biol Med. 2013 Apr;57:10-21. doi: 10.1016/j.freeradbiomed.2012.12.009. Epub 2012 Dec 20.
8. Exenatide Inhibits the KCa3.1 Channels of Aortic Vascular Smooth Muscle in Diabetic Rats. Dong P, etal., Acta Cardiol Sin. 2017 Nov;33(6):648-655. doi: 10.6515/ACS20170612B.
9. Human neuronal changes in brain edema and increased intracranial pressure. Faragó N, etal., Acta Neuropathol Commun. 2016 Aug 4;4(1):78. doi: 10.1186/s40478-016-0356-x.
10. Macrophages facilitate post myocardial infarction arrhythmias: roles of gap junction and KCa3.1. Fei YD, etal., Theranostics. 2019 Aug 14;9(22):6396-6411. doi: 10.7150/thno.34801. eCollection 2019.
11. Treatment with the KCa3.1 inhibitor TRAM-34 during diabetic ketoacidosis reduces inflammatory changes in the brain. Glaser N, etal., Pediatr Diabetes. 2017 Aug;18(5):356-366. doi: 10.1111/pedi.12396. Epub 2016 May 13.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. Involvement of Ca2+-activated K+ channel 3.1 in hypoxia-induced pulmonary arterial hypertension and therapeutic effects of TRAM-34 in rats. Guo S, etal., Biosci Rep. 2017 Jul 27;37(4):BSR20170763. doi: 10.1042/BSR20170763. Print 2017 Aug 31.
14. High glucose induces CCL20 in proximal tubular cells via activation of the KCa3.1 channel. Huang C, etal., PLoS One. 2014 Apr 14;9(4):e95173. doi: 10.1371/journal.pone.0095173. eCollection 2014.
15. The KCa3.1 blocker TRAM34 reverses renal damage in a mouse model of established diabetic nephropathy. Huang C, etal., PLoS One. 2018 Feb 9;13(2):e0192800. doi: 10.1371/journal.pone.0192800. eCollection 2018.
16. Targeting the KCa3.1 channel suppresses diabetes-associated atherosclerosis via the STAT3/CD36 axis. Jiang XX, etal., Diabetes Res Clin Pract. 2022 Mar;185:109776. doi: 10.1016/j.diabres.2022.109776. Epub 2022 Feb 9.
17. hSK4, a member of a novel subfamily of calcium-activated potassium channels. Joiner WJ, etal., Proc Natl Acad Sci U S A 1997 Sep 30;94(20):11013-8.
18. Blockade of KCa3.1 Attenuates Left Ventricular Remodeling after Experimental Myocardial Infarction. Ju CH, etal., Cell Physiol Biochem. 2015;36(4):1305-15. doi: 10.1159/000430298.
19. Kcnn4 is a regulator of macrophage multinucleation in bone homeostasis and inflammatory disease. Kang H, etal., Cell Rep. 2014 Aug 21;8(4):1210-24. doi: 10.1016/j.celrep.2014.07.032. Epub 2014 Aug 14.
20. Modafinil improves monocrotaline-induced pulmonary hypertension rat model. Lee H, etal., Pediatr Res. 2016 Jul;80(1):119-27. doi: 10.1038/pr.2016.38. Epub 2016 Mar 9.
21. Inhibitory effects of candesartan on KCa3.1 potassium channel expression and cell culture and proliferation in peripheral blood CD4+T lymphocytes in Kazakh patients with hypertension from the Xinjiang region. Li H, etal., Clin Exp Hypertens. 2018;40(4):303-311. doi: 10.1080/10641963.2017.1377212. Epub 2018 Feb 1.
22. Selective intermediate-/small-conductance calcium-activated potassium channel (KCNN4) blockers are potent and effective therapeutics in experimental brain oedema and traumatic brain injury caused by acute subdural haematoma. Mauler F, etal., Eur J Neurosci. 2004 Oct;20(7):1761-8. doi: 10.1111/j.1460-9568.2004.03615.x.
23. Targeting of microglial KCa3.1 channels by TRAM-34 exacerbates hippocampal neurodegeneration and does not affect ictogenesis and epileptogenesis in chronic temporal lobe epilepsy models. Ongerth T, etal., Eur J Pharmacol. 2014 Oct 5;740:72-80. doi: 10.1016/j.ejphar.2014.06.061. Epub 2014 Jul 10.
24. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
25. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
26. The calcium-activated potassium channel KCa3.1 is an important modulator of hepatic injury. Sevelsted Møller L, etal., Sci Rep. 2016 Jun 29;6:28770. doi: 10.1038/srep28770.
27. KCa3.1 Channels Promote Cardiac Fibrosis Through Mediating Inflammation and Differentiation of Monocytes Into Myofibroblasts in Angiotensin II -Treated Rats. She G, etal., J Am Heart Assoc. 2019 Jan 8;8(1):e010418. doi: 10.1161/JAHA.118.010418.
28. Insulin-mediated upregulation of K(Ca)3.1 channels promotes cell migration and proliferation in rat vascular smooth muscle. Su XL, etal., J Mol Cell Cardiol. 2011 Jul;51(1):51-7. doi: 10.1016/j.yjmcc.2011.03.014. Epub 2011 Apr 2.
29. The intermediate-conductance calcium-activated potassium channel KCa3.1 contributes to atherogenesis in mice and humans. Toyama K, etal., J Clin Invest. 2008 Sep;118(9):3025-37. doi: 10.1172/JCI30836.
30. Oxidative stress promotes myocardial fibrosis by upregulating KCa3.1 channel expression in AGT-REN double transgenic hypertensive mice. Wang LP, etal., Pflugers Arch. 2017 Sep;469(9):1061-1071. doi: 10.1007/s00424-017-1984-0. Epub 2017 Apr 28.
31. [Ca(2+)-activated K(+) channel switching in smooth muscle participates in atherosclerosis development in diabetic rats]. Wang Y, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2014 Feb;34(2):188-92.
32. Role of KCa3.1 Channels in Macrophage Polarization and Its Relevance in Atherosclerotic Plaque Instability. Xu R, etal., Arterioscler Thromb Vasc Biol. 2017 Feb;37(2):226-236. doi: 10.1161/ATVBAHA.116.308461. Epub 2016 Dec 29.
33. Relationship between haplotypes of KCNN4 gene and susceptibility to human vascular diseases in Japanese. Yamaguchi M, etal., Med Sci Monit. 2009 Aug;15(8):CR389-97.
34. The potassium channel KCa3.1 constitutes a pharmacological target for astrogliosis associated with ischemia stroke. Yi M, etal., J Neuroinflammation. 2017 Oct 16;14(1):203. doi: 10.1186/s12974-017-0973-8.
35. Targeted inhibition of KCa3.1 attenuates TGF-β-induced reactive astrogliosis through the Smad2/3 signaling pathway. Yu Z, etal., J Neurochem. 2014 Jul;130(1):41-49. doi: 10.1111/jnc.12710. Epub 2014 Mar 27.
36. Potassium channel changes of peripheral blood T-lymphocytes from Kazakh hypertensive patients in Northwest China and the inhibition effect towards potassium channels by telmisartan. Zhang Q, etal., Kardiol Pol. 2016;74(5):476-488. doi: 10.5603/KP.a2015.0210. Epub 2015 Oct 27.
37. [Voltage-dependent potassium channel and calcium-activated potassium channel current changes of peripheral blood T-lymphocytes from hypertensive patients in Xinjiang Kazakh]. Zhang QB, etal., Zhonghua Xin Xue Guan Bing Za Zhi. 2013 Dec;41(12):1020-4.
38. The role of KCa3.1 channels in cardiac fibrosis induced by pressure overload in rats. Zhao LM, etal., Pflugers Arch. 2015 Nov;467(11):2275-85. doi: 10.1007/s00424-015-1694-4. Epub 2015 Feb 27.
Additional References at PubMed
PMID:9326665   PMID:9407042   PMID:9693050   PMID:10026195   PMID:10758170   PMID:10880439   PMID:10961988   PMID:11425865   PMID:12198491   PMID:12421833   PMID:12434576   PMID:12477932  
PMID:12493744   PMID:12609997   PMID:12612194   PMID:12773623   PMID:14724753   PMID:14754884   PMID:15039018   PMID:15339840   PMID:15452196   PMID:15489334   PMID:15817638   PMID:15965951  
PMID:16251351   PMID:16382103   PMID:16766578   PMID:17151145   PMID:17157250   PMID:17310992   PMID:17353352   PMID:17470662   PMID:17474152   PMID:17585114   PMID:17762175   PMID:18184876  
PMID:18227067   PMID:18287336   PMID:18367588   PMID:18547995   PMID:18690018   PMID:18792407   PMID:18796614   PMID:19052260   PMID:19270724   PMID:19406468   PMID:19409928   PMID:19587117  
PMID:19608980   PMID:19823864   PMID:20036632   PMID:20407432   PMID:20501432   PMID:20712009   PMID:20720181   PMID:20808839   PMID:21123738   PMID:21172909   PMID:21228320   PMID:21345794  
PMID:21465474   PMID:21551009   PMID:21725609   PMID:21828287   PMID:21872912   PMID:21873635   PMID:23345219   PMID:23392713   PMID:23407879   PMID:23535729   PMID:23572150   PMID:23589888  
PMID:23609438   PMID:23720748   PMID:23792675   PMID:23904164   PMID:23949222   PMID:24055799   PMID:24138859   PMID:24146918   PMID:24158513   PMID:24166472   PMID:24193405   PMID:24227782  
PMID:24392001   PMID:24470490   PMID:24585442   PMID:24632741   PMID:24826782   PMID:24885636   PMID:24963668   PMID:25300013   PMID:25372486   PMID:25415613   PMID:25468996   PMID:25476248  
PMID:25545021   PMID:25848765   PMID:26138196   PMID:26148990   PMID:26177720   PMID:26178367   PMID:26198474   PMID:26418693   PMID:26438401   PMID:26496610   PMID:26689552   PMID:26760575  
PMID:26824610   PMID:27020659   PMID:27029904   PMID:27092946   PMID:27124117   PMID:27165696   PMID:27183905   PMID:27270322   PMID:27470924   PMID:27542194   PMID:28028617   PMID:28219898  
PMID:28248292   PMID:28280257   PMID:28619848   PMID:29050937   PMID:29554088   PMID:29692361   PMID:29724949   PMID:29792849   PMID:29953543   PMID:30166570   PMID:30442153   PMID:30472996  
PMID:30622214   PMID:30628729   PMID:30655378   PMID:31048549   PMID:31091145   PMID:31141130   PMID:31461656   PMID:32296183   PMID:32857728   PMID:33040815   PMID:33199365   PMID:33331347  
PMID:33588880   PMID:33676318   PMID:33896824   PMID:33905948   PMID:33961781   PMID:34400625   PMID:34445066   PMID:35805963   PMID:35955737   PMID:36571487   PMID:37968509   PMID:38018635  
PMID:38117590   PMID:38134241   PMID:38338693  


Genomics

Comparative Map Data
KCNN4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381943,766,533 - 43,780,973 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1943,766,533 - 43,780,976 (-)EnsemblGRCh38hg38GRCh38
GRCh371944,270,685 - 44,285,125 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361948,962,525 - 48,977,249 (-)NCBINCBI36Build 36hg18NCBI36
Build 341948,962,524 - 48,977,249NCBI
Celera1941,074,253 - 41,088,976 (-)NCBICelera
Cytogenetic Map19q13.31NCBI
HuRef1940,702,891 - 40,717,615 (-)NCBIHuRef
CHM1_11944,272,786 - 44,287,492 (-)NCBICHM1_1
T2T-CHM13v2.01946,589,266 - 46,619,926 (-)NCBIT2T-CHM13v2.0
Kcnn4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39724,069,750 - 24,084,635 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl724,069,688 - 24,086,115 (+)EnsemblGRCm39 Ensembl
GRCm38724,369,826 - 24,385,212 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl724,370,263 - 24,386,690 (+)EnsemblGRCm38mm10GRCm38
MGSCv37725,155,282 - 25,170,231 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36724,079,023 - 24,093,969 (+)NCBIMGSCv36mm8
Celera718,994,758 - 19,009,501 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map710.37NCBI
Kcnn4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8189,084,306 - 89,102,279 (+)NCBIGRCr8
mRatBN7.2179,956,380 - 79,974,354 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,959,322 - 79,974,340 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx185,353,007 - 85,367,886 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0193,902,801 - 93,917,830 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0187,108,816 - 87,123,695 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0181,227,855 - 81,245,986 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl181,230,612 - 81,245,996 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0182,490,768 - 82,508,502 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4179,613,736 - 79,628,887 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1179,691,846 - 79,706,998 (+)NCBI
Celera174,414,099 - 74,428,815 (+)NCBICelera
Cytogenetic Map1q21NCBI
Kcnn4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555551,490,052 - 1,509,113 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555551,493,600 - 1,509,113 (-)NCBIChiLan1.0ChiLan1.0
KCNN4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22049,929,192 - 49,945,958 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11951,801,737 - 51,819,125 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01940,715,621 - 40,735,025 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11949,321,403 - 49,335,909 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1949,321,403 - 49,335,900 (-)Ensemblpanpan1.1panPan2
KCNN4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11111,391,464 - 111,407,612 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1111,391,159 - 111,407,701 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1110,871,521 - 110,887,685 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01111,964,804 - 111,980,983 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1111,968,172 - 111,980,026 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11111,590,240 - 111,606,189 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01111,224,067 - 111,240,036 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01112,107,905 - 112,124,068 (+)NCBIUU_Cfam_GSD_1.0
Kcnn4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934916,593,227 - 16,605,448 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936706940,585 - 952,484 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNN4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl650,580,022 - 50,593,544 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1650,580,016 - 50,593,518 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2646,440,884 - 46,454,405 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNN4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1637,289,088 - 37,316,850 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607316,833,196 - 16,851,561 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnn4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249071,266,348 - 1,278,699 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249071,266,348 - 1,279,258 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNN4
81 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3 copy number gain See cases [RCV000054151] Chr19:43338231..43853163 [GRCh38]
Chr19:43842383..44357315 [GRCh37]
Chr19:48534223..49049155 [NCBI36]
Chr19:19q13.31		 uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32		 pathogenic
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV000412510]|not provided [RCV000239166] Chr19:43769027 [GRCh38]
Chr19:44273179 [GRCh37]
Chr19:19q13.31		 pathogenic
NM_002250.3(KCNN4):c.844G>A (p.Val282Met) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV000412590] Chr19:43769805 [GRCh38]
Chr19:44273957 [GRCh37]
Chr19:19q13.31		 pathogenic|likely pathogenic
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV000412652] Chr19:43769804 [GRCh38]
Chr19:44273956 [GRCh37]
Chr19:19q13.31		 pathogenic|likely pathogenic
GRCh37/hg19 19q13.31(chr19:44273854-44341333)x3 copy number gain See cases [RCV000448693] Chr19:44273854..44341333 [GRCh37]
Chr19:19q13.31		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_002250.3(KCNN4):c.304G>T (p.Gly102Trp) single nucleotide variant Inborn genetic diseases [RCV003294800] Chr19:43774571 [GRCh38]
Chr19:44278723 [GRCh37]
Chr19:19q13.31		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele duplication Schizophrenia [RCV000754211] Chr19:41608672..44315856 [GRCh38]
Chr19:19q13.2-13.31		 likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_002250.3(KCNN4):c.229G>A (p.Val77Met) single nucleotide variant not provided [RCV000893494] Chr19:43776567 [GRCh38]
Chr19:44280719 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.160-192A>C single nucleotide variant not provided [RCV001666532] Chr19:43776828 [GRCh38]
Chr19:44280980 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.147C>T (p.Phe49=) single nucleotide variant not provided [RCV000915493] Chr19:43780715 [GRCh38]
Chr19:44284867 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.504C>T (p.Leu168=) single nucleotide variant not provided [RCV000892310] Chr19:43774371 [GRCh38]
Chr19:44278523 [GRCh37]
Chr19:19q13.31		 benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_002250.3(KCNN4):c.458C>T (p.Ser153Phe) single nucleotide variant Inborn genetic diseases [RCV003270781] Chr19:43774417 [GRCh38]
Chr19:44278569 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.31G>A (p.Ala11Thr) single nucleotide variant Inborn genetic diseases [RCV003249888] Chr19:43780831 [GRCh38]
Chr19:44284983 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.1120-76T>C single nucleotide variant not provided [RCV001638661] Chr19:43767783 [GRCh38]
Chr19:44271935 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.255+184C>A single nucleotide variant not provided [RCV001695163] Chr19:43776357 [GRCh38]
Chr19:44280509 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.820-151G>A single nucleotide variant not provided [RCV001686527] Chr19:43769980 [GRCh38]
Chr19:44274132 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.819+252A>G single nucleotide variant not provided [RCV001635631] Chr19:43771748 [GRCh38]
Chr19:44275900 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.820-2dup duplication Dehydrated hereditary stomatocytosis 2 [RCV002479137]|KCNN4-related condition [RCV003906052]|not provided [RCV000972953] Chr19:43769830..43769831 [GRCh38]
Chr19:44273982..44273983 [GRCh37]
Chr19:19q13.31		 benign|likely benign
NM_002250.3(KCNN4):c.447A>C (p.Glu149Asp) single nucleotide variant KCNN4-related condition [RCV003975764]|not provided [RCV000904112] Chr19:43774428 [GRCh38]
Chr19:44278580 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.160-49C>T single nucleotide variant not provided [RCV001594807] Chr19:43776685 [GRCh38]
Chr19:44280837 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.1049+78A>G single nucleotide variant not provided [RCV001659597] Chr19:43769364 [GRCh38]
Chr19:44273516 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.255+215C>T single nucleotide variant not provided [RCV001620462] Chr19:43776326 [GRCh38]
Chr19:44280478 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.256-10C>T single nucleotide variant not provided [RCV001650120] Chr19:43774629 [GRCh38]
Chr19:44278781 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.256-8A>C single nucleotide variant not provided [RCV001678811] Chr19:43774627 [GRCh38]
Chr19:44278779 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.159+207A>G single nucleotide variant not provided [RCV001713521] Chr19:43780496 [GRCh38]
Chr19:44284648 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.160-82del deletion not provided [RCV001667423] Chr19:43776718 [GRCh38]
Chr19:44280870 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001352675] Chr19:43769551 [GRCh38]
Chr19:44273703 [GRCh37]
Chr19:19q13.31		 pathogenic
NM_002250.3(KCNN4):c.684-83T>C single nucleotide variant not provided [RCV001690587] Chr19:43772218 [GRCh38]
Chr19:44276370 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.684-300C>T single nucleotide variant not provided [RCV001674089] Chr19:43772435 [GRCh38]
Chr19:44276587 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.820-60C>T single nucleotide variant not provided [RCV001696734] Chr19:43769889 [GRCh38]
Chr19:44274041 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.684-226A>T single nucleotide variant not provided [RCV001685586] Chr19:43772361 [GRCh38]
Chr19:44276513 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.892G>T (p.Val298Leu) single nucleotide variant Inborn genetic diseases [RCV003198262] Chr19:43769757 [GRCh38]
Chr19:44273909 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.1007C>T (p.Ala336Val) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV001809099] Chr19:43769484 [GRCh38]
Chr19:44273636 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.2(KCNN4):c.-365G>T single nucleotide variant KCNN4-related condition [RCV003893078]|not provided [RCV002020521] Chr19:43781226 [GRCh38]
Chr19:44285378 [GRCh37]
Chr19:19q13.31		 benign|likely benign|uncertain significance
NM_002250.3(KCNN4):c.942C>T (p.Ser314=) single nucleotide variant not provided [RCV002124861] Chr19:43769549 [GRCh38]
Chr19:44273701 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.1038C>T (p.Ala346=) single nucleotide variant not provided [RCV002174253] Chr19:43769453 [GRCh38]
Chr19:44273605 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.256-5G>A single nucleotide variant not provided [RCV002214119] Chr19:43774624 [GRCh38]
Chr19:44278776 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.159+1824A>G single nucleotide variant not provided [RCV002117741] Chr19:43778879 [GRCh38]
Chr19:44283031 [GRCh37]
Chr19:19q13.31		 benign
NC_000019.9:g.(?_44011002)_(45213778_?)dup duplication Ethylmalonic encephalopathy [RCV003116731] Chr19:44011002..45213778 [GRCh37]
Chr19:19q13.31-13.32		 uncertain significance
NM_002250.3(KCNN4):c.787G>A (p.Gly263Ser) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003131324] Chr19:43772032 [GRCh38]
Chr19:44276184 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.445G>A (p.Glu149Lys) single nucleotide variant Inborn genetic diseases [RCV002571418]|not provided [RCV002467293] Chr19:43774430 [GRCh38]
Chr19:44278582 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.36G>C (p.Leu12Phe) single nucleotide variant Inborn genetic diseases [RCV002840282] Chr19:43780826 [GRCh38]
Chr19:44284978 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.950G>A (p.Arg317Gln) single nucleotide variant not provided [RCV002947112] Chr19:43769541 [GRCh38]
Chr19:44273693 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.191C>T (p.Thr64Met) single nucleotide variant Inborn genetic diseases [RCV002660269] Chr19:43776605 [GRCh38]
Chr19:44280757 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.233C>T (p.Ala78Val) single nucleotide variant Inborn genetic diseases [RCV002977313]|not provided [RCV003481423] Chr19:43776563 [GRCh38]
Chr19:44280715 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.1246C>T (p.Pro416Ser) single nucleotide variant Inborn genetic diseases [RCV002798009] Chr19:43767581 [GRCh38]
Chr19:44271733 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.850G>A (p.Val284Met) single nucleotide variant Inborn genetic diseases [RCV002737315] Chr19:43769799 [GRCh38]
Chr19:44273951 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.165G>A (p.Ala55=) single nucleotide variant not provided [RCV002594538] Chr19:43776631 [GRCh38]
Chr19:44280783 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.970A>G (p.Met324Val) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003492816]|Inborn genetic diseases [RCV002956680] Chr19:43769521 [GRCh38]
Chr19:44273673 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.49C>T (p.Arg17Cys) single nucleotide variant Inborn genetic diseases [RCV002872880] Chr19:43780813 [GRCh38]
Chr19:44284965 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.928G>A (p.Glu310Lys) single nucleotide variant Inborn genetic diseases [RCV002916794] Chr19:43769721 [GRCh38]
Chr19:44273873 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.636G>A (p.Thr212=) single nucleotide variant not provided [RCV002953928] Chr19:43774239 [GRCh38]
Chr19:44278391 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.160-15C>T single nucleotide variant not provided [RCV002576827] Chr19:43776651 [GRCh38]
Chr19:44280803 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.1018C>A (p.His340Asn) single nucleotide variant KCNN4-related condition [RCV003916543]|not provided [RCV002833392] Chr19:43769473 [GRCh38]
Chr19:44273625 [GRCh37]
Chr19:19q13.31		 likely benign|conflicting interpretations of pathogenicity
NM_002250.3(KCNN4):c.334C>T (p.Leu112=) single nucleotide variant not provided [RCV003062874] Chr19:43774541 [GRCh38]
Chr19:44278693 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.1120-16C>T single nucleotide variant not provided [RCV002608279] Chr19:43767723 [GRCh38]
Chr19:44271875 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.1169G>A (p.Arg390Gln) single nucleotide variant Inborn genetic diseases [RCV002655547] Chr19:43767658 [GRCh38]
Chr19:44271810 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.1272G>T (p.Gln424His) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003131323] Chr19:43767555 [GRCh38]
Chr19:44271707 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.790A>C (p.Lys264Gln) single nucleotide variant Inborn genetic diseases [RCV003193356] Chr19:43772029 [GRCh38]
Chr19:44276181 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.766G>A (p.Val256Met) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003133809] Chr19:43772053 [GRCh38]
Chr19:44276205 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.1193C>T (p.Thr398Met) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003133804]|KCNN4-related condition [RCV003946444] Chr19:43767634 [GRCh38]
Chr19:44271786 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.391T>A (p.Leu131Ile) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003133805] Chr19:43774484 [GRCh38]
Chr19:44278636 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.8G>A (p.Gly3Glu) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003133808] Chr19:43780854 [GRCh38]
Chr19:44285006 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.263T>G (p.Met88Arg) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003142593] Chr19:43774612 [GRCh38]
Chr19:44278764 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.340G>T (p.Val114Leu) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003133806] Chr19:43774535 [GRCh38]
Chr19:44278687 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.289C>A (p.Arg97Ser) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003133803] Chr19:43774586 [GRCh38]
Chr19:44278738 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.43C>G (p.Arg15Gly) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003325631] Chr19:43780819 [GRCh38]
Chr19:44284971 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.243C>T (p.Ala81=) single nucleotide variant not provided [RCV003570708] Chr19:43776553 [GRCh38]
Chr19:44280705 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.228C>G (p.Ile76Met) single nucleotide variant KCNN4-related condition [RCV003399755] Chr19:43776568 [GRCh38]
Chr19:44280720 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.683+333G>C single nucleotide variant not provided [RCV003407024] Chr19:43773859 [GRCh38]
Chr19:44278011 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.20T>C (p.Leu7Pro) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003493047] Chr19:43780842 [GRCh38]
Chr19:44284994 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.40C>T (p.Arg14Cys) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003493051] Chr19:43780822 [GRCh38]
Chr19:44284974 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.611C>G (p.Pro204Arg) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003493049] Chr19:43774264 [GRCh38]
Chr19:44278416 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.904A>T (p.Met302Leu) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003493050]|KCNN4-related condition [RCV003984373] Chr19:43769745 [GRCh38]
Chr19:44273897 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.726_729del (p.Leu241_Trp242insTer) deletion Dehydrated hereditary stomatocytosis 2 [RCV003493048] Chr19:43772090..43772093 [GRCh38]
Chr19:44276242..44276245 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.159G>A (p.Ser53=) single nucleotide variant not provided [RCV003726819] Chr19:43780703 [GRCh38]
Chr19:44284855 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.990C>T (p.Arg330=) single nucleotide variant not provided [RCV003862082] Chr19:43769501 [GRCh38]
Chr19:44273653 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.540C>G (p.Arg180=) single nucleotide variant not provided [RCV003556523] Chr19:43774335 [GRCh38]
Chr19:44278487 [GRCh37]
Chr19:19q13.31		 benign
NM_002250.3(KCNN4):c.238C>T (p.His80Tyr) single nucleotide variant not provided [RCV003704299] Chr19:43776558 [GRCh38]
Chr19:44280710 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.820-16C>T single nucleotide variant not provided [RCV003822595] Chr19:43769845 [GRCh38]
Chr19:44273997 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.1039G>A (p.Ala347Thr) single nucleotide variant KCNN4-related condition [RCV003959136] Chr19:43769452 [GRCh38]
Chr19:44273604 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.1159A>C (p.Ser387Arg) single nucleotide variant KCNN4-related condition [RCV003959822] Chr19:43767668 [GRCh38]
Chr19:44271820 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.150G>A (p.Gly50=) single nucleotide variant KCNN4-related condition [RCV003952258] Chr19:43780712 [GRCh38]
Chr19:44284864 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.160-7dup duplication KCNN4-related condition [RCV003934375] Chr19:43776642..43776643 [GRCh38]
Chr19:44280794..44280795 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.44G>A (p.Arg15Gln) single nucleotide variant KCNN4-related condition [RCV003894591] Chr19:43780818 [GRCh38]
Chr19:44284970 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002250.3(KCNN4):c.519C>T (p.Val173=) single nucleotide variant KCNN4-related condition [RCV003894261] Chr19:43774356 [GRCh38]
Chr19:44278508 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.918G>A (p.Gln306=) single nucleotide variant not provided [RCV003415306] Chr19:43769731 [GRCh38]
Chr19:44273883 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002250.3(KCNN4):c.839T>A (p.Leu280Gln) single nucleotide variant Dehydrated hereditary stomatocytosis 2 [RCV003131325] Chr19:43769810 [GRCh38]
Chr19:44273962 [GRCh37]
Chr19:19q13.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2873
Count of miRNA genes:888
Interacting mature miRNAs:1077
Transcripts:ENST00000262888, ENST00000597184, ENST00000598836, ENST00000599107, ENST00000599720, ENST00000600408, ENST00000600909, ENST00000601549
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D19S217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,281,366 - 44,281,588UniSTSGRCh37
GRCh371944,281,405 - 44,281,577UniSTSGRCh37
GRCh371944,281,405 - 44,281,457UniSTSGRCh37
Build 361948,973,245 - 48,973,297RGDNCBI36
Celera1941,084,973 - 41,085,025RGD
Celera1941,084,973 - 41,085,145UniSTS
Celera1941,084,934 - 41,085,156UniSTS
Cytogenetic Map19q13.2UniSTS
HuRef1940,713,611 - 40,713,663UniSTS
HuRef1940,713,572 - 40,713,794UniSTS
HuRef1940,713,611 - 40,713,783UniSTS
Marshfield Genetic Map1968.08RGD
Genethon Genetic Map1967.8UniSTS
deCODE Assembly Map1970.53UniSTS
Stanford-G3 RH Map192216.0UniSTS
GeneMap99-GB4 RH Map19247.53UniSTS
Whitehead-RH Map19327.4UniSTS
Whitehead-YAC Contig Map19 UniSTS
NCBI RH Map19445.7UniSTS
GeneMap99-G3 RH Map192227.0UniSTS
SHGC-33130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,270,703 - 44,270,804UniSTSGRCh37
Build 361948,962,543 - 48,962,644RGDNCBI36
Celera1941,074,271 - 41,074,372RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,702,909 - 40,703,010UniSTS
Stanford-G3 RH Map192189.0UniSTS
GeneMap99-GB4 RH Map19247.53UniSTS
Whitehead-RH Map19324.0UniSTS
NCBI RH Map19470.1UniSTS
GeneMap99-G3 RH Map192200.0UniSTS
RH47242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,270,754 - 44,270,875UniSTSGRCh37
Build 361948,962,594 - 48,962,715RGDNCBI36
Celera1941,074,322 - 41,074,443RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,702,960 - 40,703,081UniSTS
GeneMap99-GB4 RH Map19247.53UniSTS
D19S217  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.2UniSTS
D19S217  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.2UniSTS
Marshfield Genetic Map1968.08UniSTS
Genethon Genetic Map1967.8UniSTS
deCODE Assembly Map1970.53UniSTS
GeneMap99-GB4 RH Map19247.53UniSTS
Whitehead-RH Map19327.4UniSTS
Whitehead-YAC Contig Map19 UniSTS
NCBI RH Map19442.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 8
Medium 762 440 95 176 1306 30 1312 25 75 53 477 452 156 56 714 4
Low 1656 2067 1164 197 608 185 2213 1084 2923 243 901 1106 14 1136 1320
Below cutoff 16 477 460 247 24 245 825 1069 709 113 72 47 2 12 749 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_935823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A95651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB128983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB128984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB128985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC115522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF022150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF022797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF033021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF053403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC874393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC537464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC537465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC537466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000597184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,766,822 - 43,769,157 (-)Ensembl
RefSeq Acc Id: ENST00000598836   ⟹   ENSP00000471900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,766,586 - 43,769,827 (-)Ensembl
RefSeq Acc Id: ENST00000599107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,774,219 - 43,776,826 (-)Ensembl
RefSeq Acc Id: ENST00000599720   ⟹   ENSP00000472513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,766,953 - 43,780,976 (-)Ensembl
RefSeq Acc Id: ENST00000600408   ⟹   ENSP00000472510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,767,577 - 43,772,107 (-)Ensembl
RefSeq Acc Id: ENST00000600909   ⟹   ENSP00000470339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,766,533 - 43,768,977 (-)Ensembl
RefSeq Acc Id: ENST00000601549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,767,452 - 43,774,496 (-)Ensembl
RefSeq Acc Id: ENST00000615047   ⟹   ENSP00000485014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,766,533 - 43,781,257 (-)Ensembl
RefSeq Acc Id: ENST00000648053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,766,539 - 43,773,900 (-)Ensembl
RefSeq Acc Id: ENST00000648319   ⟹   ENSP00000496939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,766,533 - 43,780,973 (-)Ensembl
RefSeq Acc Id: NM_002250   ⟹   NP_002241
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,766,533 - 43,780,973 (-)NCBI
GRCh371944,270,685 - 44,286,269 (-)NCBI
Build 361948,962,525 - 48,977,249 (-)NCBI Archive
HuRef1940,702,891 - 40,717,615 (-)ENTREZGENE
CHM1_11944,272,786 - 44,287,492 (-)NCBI
T2T-CHM13v2.01946,589,266 - 46,603,819 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005258882   ⟹   XP_005258939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,766,533 - 43,780,973 (-)NCBI
GRCh371944,270,685 - 44,286,269 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005258883   ⟹   XP_005258940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,766,533 - 43,780,973 (-)NCBI
GRCh371944,270,685 - 44,286,269 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047438793   ⟹   XP_047294749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,773,786 - 43,780,973 (-)NCBI
RefSeq Acc Id: XM_047438794   ⟹   XP_047294750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,766,533 - 43,773,900 (-)NCBI
RefSeq Acc Id: XM_054320943   ⟹   XP_054176918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,589,266 - 46,606,068 (-)NCBI
RefSeq Acc Id: XM_054320944   ⟹   XP_054176919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,589,266 - 46,608,921 (-)NCBI
RefSeq Acc Id: XM_054320945   ⟹   XP_054176920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,589,266 - 46,619,926 (-)NCBI
RefSeq Acc Id: XM_054320946   ⟹   XP_054176921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,589,266 - 46,603,819 (-)NCBI
RefSeq Acc Id: XM_054320947   ⟹   XP_054176922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,589,266 - 46,603,819 (-)NCBI
RefSeq Acc Id: XM_054320948   ⟹   XP_054176923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,596,519 - 46,603,819 (-)NCBI
RefSeq Acc Id: XM_054320949   ⟹   XP_054176924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,589,266 - 46,596,633 (-)NCBI
RefSeq Acc Id: XR_008485146
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,592,473 - 46,603,819 (-)NCBI
RefSeq Acc Id: XR_935823
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,769,740 - 43,780,973 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002241 (Get FASTA)   NCBI Sequence Viewer  
  XP_005258939 (Get FASTA)   NCBI Sequence Viewer  
  XP_005258940 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294749 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294750 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176918 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176919 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176920 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176921 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176922 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176923 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176924 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB82739 (Get FASTA)   NCBI Sequence Viewer  
  AAC23541 (Get FASTA)   NCBI Sequence Viewer  
  AAC35281 (Get FASTA)   NCBI Sequence Viewer  
  AAC36804 (Get FASTA)   NCBI Sequence Viewer  
  AAC51913 (Get FASTA)   NCBI Sequence Viewer  
  AAG26917 (Get FASTA)   NCBI Sequence Viewer  
  AAH15337 (Get FASTA)   NCBI Sequence Viewer  
  AAK81862 (Get FASTA)   NCBI Sequence Viewer  
  AAP36094 (Get FASTA)   NCBI Sequence Viewer  
  BAI52725 (Get FASTA)   NCBI Sequence Viewer  
  BAI52726 (Get FASTA)   NCBI Sequence Viewer  
  BAI52727 (Get FASTA)   NCBI Sequence Viewer  
  BCD52730 (Get FASTA)   NCBI Sequence Viewer  
  BCD52731 (Get FASTA)   NCBI Sequence Viewer  
  BCD52732 (Get FASTA)   NCBI Sequence Viewer  
  CAB70490 (Get FASTA)   NCBI Sequence Viewer  
  CBM42811 (Get FASTA)   NCBI Sequence Viewer  
  EAW57229 (Get FASTA)   NCBI Sequence Viewer  
  EAW57230 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000470339.1
  ENSP00000471900.1
  ENSP00000472510.1
  ENSP00000472513.1
  ENSP00000496939
  ENSP00000496939.1
GenBank Protein O15554 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_002241   ⟸   NM_002250
- UniProtKB: Q53XR4 (UniProtKB/Swiss-Prot),   O15554 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005258939   ⟸   XM_005258882
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005258940   ⟸   XM_005258883
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000496939   ⟸   ENST00000648319
RefSeq Acc Id: ENSP00000471900   ⟸   ENST00000598836
RefSeq Acc Id: ENSP00000472513   ⟸   ENST00000599720
RefSeq Acc Id: ENSP00000472510   ⟸   ENST00000600408
RefSeq Acc Id: ENSP00000470339   ⟸   ENST00000600909
RefSeq Acc Id: ENSP00000485014   ⟸   ENST00000615047
RefSeq Acc Id: XP_047294750   ⟸   XM_047438794
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047294749   ⟸   XM_047438793
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054176920   ⟸   XM_054320945
- Peptide Label: isoform X5
- UniProtKB: O15554 (UniProtKB/Swiss-Prot),   Q53XR4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054176919   ⟸   XM_054320944
- Peptide Label: isoform X5
- UniProtKB: O15554 (UniProtKB/Swiss-Prot),   Q53XR4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054176918   ⟸   XM_054320943
- Peptide Label: isoform X5
- UniProtKB: O15554 (UniProtKB/Swiss-Prot),   Q53XR4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054176921   ⟸   XM_054320946
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054176922   ⟸   XM_054320947
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054176924   ⟸   XM_054320949
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054176923   ⟸   XM_054320948
- Peptide Label: isoform X3
Protein Domains
Calmodulin-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15554-F1-model_v2 AlphaFold O15554 1-427 view protein structure

Promoters
RGD ID:7240269
Promoter ID:EPDNEW_H25881
Type:initiation region
Name:KCNN4_2
Description:potassium calcium-activated channel subfamily N member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25882  EPDNEW_H25883  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,780,973 - 43,781,033EPDNEW
RGD ID:7240273
Promoter ID:EPDNEW_H25882
Type:initiation region
Name:KCNN4_1
Description:potassium calcium-activated channel subfamily N member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25881  EPDNEW_H25883  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,781,281 - 43,781,341EPDNEW
RGD ID:7240275
Promoter ID:EPDNEW_H25883
Type:initiation region
Name:KCNN4_3
Description:potassium calcium-activated channel subfamily N member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25881  EPDNEW_H25882  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,784,573 - 43,784,633EPDNEW
RGD ID:6795656
Promoter ID:HG_KWN:30166
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:UC010EIZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361948,970,374 - 48,970,874 (-)MPROMDB
RGD ID:6811623
Promoter ID:HG_ACW:41769
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:KCNN4.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361948,972,386 - 48,973,597 (-)MPROMDB
RGD ID:6795428
Promoter ID:HG_KWN:30167
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000407385,   NM_002250,   UC010EJA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361948,976,871 - 48,977,867 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6293 AgrOrtholog
COSMIC KCNN4 COSMIC
Ensembl Genes ENSG00000104783 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000598836.1 UniProtKB/TrEMBL
  ENST00000599720.5 UniProtKB/TrEMBL
  ENST00000600408.1 UniProtKB/TrEMBL
  ENST00000600909.1 UniProtKB/TrEMBL
  ENST00000648053 ENTREZGENE
  ENST00000648319 ENTREZGENE
  ENST00000648319.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104783 GTEx
HGNC ID HGNC:6293 ENTREZGENE
Human Proteome Map KCNN4 Human Proteome Map
InterPro CaM-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CaM-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_Ca-activ_SK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3783 UniProtKB/Swiss-Prot
NCBI Gene 3783 ENTREZGENE
OMIM 602754 OMIM
PANTHER INTERMEDIATE CONDUCTANCE CALCIUM-ACTIVATED POTASSIUM CHANNEL PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10153 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CaMBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SK_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA222 PharmGKB
SMART CaMBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81327 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7R6V286_HUMAN UniProtKB/TrEMBL
  A0A7R6V2A8_HUMAN UniProtKB/TrEMBL
  A0A7R6V2A9_HUMAN UniProtKB/TrEMBL
  D1MQ08_HUMAN UniProtKB/TrEMBL
  D1MQ09_HUMAN UniProtKB/TrEMBL
  D1MQ10_HUMAN UniProtKB/TrEMBL
  KCNN4_HUMAN UniProtKB/Swiss-Prot
  M0QZ70_HUMAN UniProtKB/TrEMBL
  M0R1J0_HUMAN UniProtKB/TrEMBL
  M0R2E8_HUMAN UniProtKB/TrEMBL
  M0R2F1_HUMAN UniProtKB/TrEMBL
  O15554 ENTREZGENE
  Q53XR4 ENTREZGENE
UniProt Secondary Q53XR4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNN4  potassium calcium-activated channel subfamily N member 4  KCNN4  potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNN4  potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4  KCNN4  potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4  Symbol and/or name change 5135510 APPROVED