KCNJ4 (potassium inwardly rectifying channel subfamily J member 4) - Rat Genome Database

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Gene: KCNJ4 (potassium inwardly rectifying channel subfamily J member 4) Homo sapiens
Analyze
Symbol: KCNJ4
Name: potassium inwardly rectifying channel subfamily J member 4
RGD ID: 733316
HGNC Page HGNC:6265
Description: Enables PDZ domain binding activity. Predicted to be involved in potassium ion import across plasma membrane and regulation of monoatomic ion transmembrane transport. Located in basolateral plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hippocampal inward rectifier potassium channel; HIR; HIRK2; HRK1; inward rectifier K(+) channel Kir2.3; inward rectifier K+ channel Kir2.3; inward rectifier potassium channel 4; IRK-3; IRK3; Kir2.3; MGC142066; MGC142068; potassium channel, inwardly rectifying subfamily J member 4; potassium channel, inwardly rectifying subfamily J, member 4; potassium inwardly-rectifying channel, subfamily J, member 4; potassium voltage-gated channel subfamily J member 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382238,426,327 - 38,455,199 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,426,327 - 38,455,199 (-)EnsemblGRCh38hg38GRCh38
GRCh372238,822,332 - 38,851,205 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362237,152,278 - 37,181,149 (-)NCBINCBI36Build 36hg18NCBI36
Build 342237,146,831 - 37,175,703NCBI
Celera2222,627,921 - 22,656,791 (-)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2221,788,287 - 21,817,034 (-)NCBIHuRef
CHM1_12238,781,129 - 38,809,998 (-)NCBICHM1_1
T2T-CHM13v2.02238,890,595 - 38,919,463 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
neuron-to-neuron signaling pathway via the chemical synapse  (ISO)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. Differential distribution of individual subunits of strongly inwardly rectifying potassium channels (Kir2 family) in rat brain. Pruss H, etal., Brain Res Mol Brain Res. 2005 Sep 13;139(1):63-79.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7607694   PMID:8016146   PMID:8034048   PMID:8051145   PMID:8893032   PMID:8943291   PMID:10206975   PMID:10479680   PMID:10591208   PMID:10627592   PMID:11181181   PMID:11306688  
PMID:11713246   PMID:11742811   PMID:11997254   PMID:12032359   PMID:12477932   PMID:14960569   PMID:15024025   PMID:15123239   PMID:15461802   PMID:15489334   PMID:15958527   PMID:16258766  
PMID:16373386   PMID:16382105   PMID:16855024   PMID:17185339   PMID:18180291   PMID:18391953   PMID:18453743   PMID:18503768   PMID:19635485   PMID:20424473   PMID:21873635   PMID:22396414  
PMID:24550280   PMID:24800985   PMID:28298427   PMID:29326130   PMID:30126976   PMID:30512237   PMID:34428256   PMID:37433992  


Genomics

Comparative Map Data
KCNJ4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382238,426,327 - 38,455,199 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,426,327 - 38,455,199 (-)EnsemblGRCh38hg38GRCh38
GRCh372238,822,332 - 38,851,205 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362237,152,278 - 37,181,149 (-)NCBINCBI36Build 36hg18NCBI36
Build 342237,146,831 - 37,175,703NCBI
Celera2222,627,921 - 22,656,791 (-)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2221,788,287 - 21,817,034 (-)NCBIHuRef
CHM1_12238,781,129 - 38,809,998 (-)NCBICHM1_1
T2T-CHM13v2.02238,890,595 - 38,919,463 (-)NCBIT2T-CHM13v2.0
Kcnj4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391579,364,427 - 79,396,712 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1579,367,915 - 79,389,442 (-)EnsemblGRCm39 Ensembl
GRCm381579,480,226 - 79,512,511 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1579,483,714 - 79,505,241 (-)EnsemblGRCm38mm10GRCm38
MGSCv371579,314,144 - 79,335,671 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361579,310,972 - 79,336,740 (-)NCBIMGSCv36mm8
Celera1581,607,702 - 81,629,675 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1537.74NCBI
Kcnj4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87112,927,494 - 112,954,547 (-)NCBIGRCr8
mRatBN7.27111,047,097 - 111,074,151 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7111,047,094 - 111,074,151 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7112,794,719 - 112,821,776 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07115,018,256 - 115,045,311 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07114,987,627 - 115,014,682 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07120,717,378 - 120,744,602 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7120,717,375 - 120,744,602 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07120,710,647 - 120,738,030 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47117,601,723 - 117,616,019 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17117,636,661 - 117,638,055 (-)NCBI
Celera7107,378,714 - 107,405,561 (-)NCBICelera
Cytogenetic Map7q34NCBI
Kcnj4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541324,605,887 - 24,634,524 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541324,605,887 - 24,634,524 (-)NCBIChiLan1.0ChiLan1.0
KCNJ4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22348,282,292 - 48,311,156 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12250,973,769 - 51,002,639 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02219,341,699 - 19,370,666 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12237,163,293 - 37,165,182 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2237,163,760 - 37,165,097 (-)Ensemblpanpan1.1panPan2
KCNJ4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11026,321,274 - 26,348,978 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1026,347,140 - 26,348,486 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1026,276,719 - 26,304,778 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01027,112,472 - 27,140,533 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11026,833,697 - 26,861,515 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01027,163,037 - 27,173,007 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01027,321,947 - 27,349,562 (+)NCBIUU_Cfam_GSD_1.0
Kcnj4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049459,830,569 - 9,857,540 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364922,865,879 - 2,867,201 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364922,865,803 - 2,867,657 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNJ4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl59,547,177 - 9,548,520 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.159,526,399 - 9,549,290 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.256,808,886 - 6,831,164 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNJ4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11921,085,857 - 21,114,961 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1921,086,322 - 21,087,659 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045104,652,027 - 104,681,343 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnj4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247529,638,704 - 9,659,523 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247529,633,799 - 9,659,532 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNJ4
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36859030-39236985)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|See cases [RCV000051366] Chr22:36859030..39236985 [GRCh38]
Chr22:37255072..39632990 [GRCh37]
Chr22:35585018..37962936 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1 copy number loss See cases [RCV000051367] Chr22:37721777..38886664 [GRCh38]
Chr22:38117784..39282669 [GRCh37]
Chr22:36447730..37612615 [NCBI36]
Chr22:22q13.1		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_152868.3(KCNJ4):c.586C>T (p.Arg196Cys) single nucleotide variant Malignant tumor of prostate [RCV000149355] Chr22:38427547 [GRCh38]
Chr22:38823552 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1 copy number loss See cases [RCV000141783] Chr22:37447222..39103680 [GRCh38]
Chr22:37843259..39499685 [GRCh37]
Chr22:36173205..37829631 [NCBI36]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3 copy number gain See cases [RCV000446037] Chr22:37090025..39601950 [GRCh37]
Chr22:22q12.3-13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:38322968-38965458) copy number gain See cases [RCV000447478] Chr22:38322968..38965458 [GRCh37]
Chr22:22q13.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1 copy number loss See cases [RCV000511673] Chr22:37866631..39054815 [GRCh37]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3 copy number gain See cases [RCV000512385] Chr22:35674826..39466442 [GRCh37]
Chr22:22q12.3-13.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:38838246-39260032)x1 copy number loss See cases [RCV000790565] Chr22:38838246..39260032 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1 copy number loss not provided [RCV001007501] Chr22:38002218..38973070 [GRCh37]
Chr22:22q13.1		 pathogenic
NM_152868.3(KCNJ4):c.1171G>A (p.Ala391Thr) single nucleotide variant not specified [RCV004298477] Chr22:38426962 [GRCh38]
Chr22:38822967 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.*102G>A single nucleotide variant not provided [RCV001693950] Chr22:38426693 [GRCh38]
Chr22:38822698 [GRCh37]
Chr22:22q13.1		 benign
NM_152868.3(KCNJ4):c.1002A>G (p.Ser334=) single nucleotide variant not provided [RCV001685308] Chr22:38427131 [GRCh38]
Chr22:38823136 [GRCh37]
Chr22:22q13.1		 benign
GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1 copy number loss See cases [RCV001007404] Chr22:38431917..39392250 [GRCh37]
Chr22:22q13.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_37154355)_(39148633_?)del deletion Emery-Dreifuss muscular dystrophy [RCV003122557]|Infantile neuroaxonal dystrophy [RCV003122556]|Myoclonic dystonia 26 [RCV003107333] Chr22:37154355..39148633 [GRCh37]
Chr22:22q12.3-13.1		 pathogenic|uncertain significance
NC_000022.10:g.(?_35776672)_(42486826_?)dup duplication Adenylosuccinate lyase deficiency [RCV003119093] Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2		 uncertain significance
NC_000022.10:g.(?_38097373)_(39306081_?)del deletion not provided [RCV003122369] Chr22:38097373..39306081 [GRCh37]
Chr22:22q13.1		 pathogenic
NM_152868.3(KCNJ4):c.865A>T (p.Ile289Phe) single nucleotide variant not provided [RCV002275591] Chr22:38427268 [GRCh38]
Chr22:38823273 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.1232C>T (p.Ala411Val) single nucleotide variant not specified [RCV004158245] Chr22:38426901 [GRCh38]
Chr22:38822906 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.969C>G (p.Phe323Leu) single nucleotide variant not specified [RCV004140442] Chr22:38427164 [GRCh38]
Chr22:38823169 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.712G>A (p.Asp238Asn) single nucleotide variant not specified [RCV004161705] Chr22:38427421 [GRCh38]
Chr22:38823426 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.310G>A (p.Gly104Ser) single nucleotide variant not specified [RCV004150181] Chr22:38427823 [GRCh38]
Chr22:38823828 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.1187C>T (p.Ala396Val) single nucleotide variant not specified [RCV004207425] Chr22:38426946 [GRCh38]
Chr22:38822951 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.1224G>C (p.Lys408Asn) single nucleotide variant not specified [RCV004153177] Chr22:38426909 [GRCh38]
Chr22:38822914 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.1184C>T (p.Ala395Val) single nucleotide variant not specified [RCV004266085] Chr22:38426949 [GRCh38]
Chr22:38822954 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.287C>T (p.Ala96Val) single nucleotide variant not specified [RCV004406232] Chr22:38427846 [GRCh38]
Chr22:38823851 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.325G>A (p.Val109Met) single nucleotide variant not specified [RCV004406233] Chr22:38427808 [GRCh38]
Chr22:38823813 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.583G>T (p.Val195Leu) single nucleotide variant not specified [RCV004406234] Chr22:38427550 [GRCh38]
Chr22:38823555 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_152868.3(KCNJ4):c.1040G>A (p.Cys347Tyr) single nucleotide variant not specified [RCV004628161] Chr22:38427093 [GRCh38]
Chr22:38823098 [GRCh37]
Chr22:22q13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:358
Count of miRNA genes:307
Interacting mature miRNAs:330
Transcripts:ENST00000303592
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406965701GWAS614677_Hconotruncal heart malformations QTL GWAS614677 (human)0.000001conotruncal heart malformations223843610738436108Human
407279633GWAS928609_Hrisk-taking behaviour QTL GWAS928609 (human)2e-08risk-taking behaviour223843565638435657Human
407326923GWAS975899_Hdiet measurement QTL GWAS975899 (human)2e-09diet measurementfood intake measurement (CMO:0000772)223842651638426517Human
407102620GWAS751596_Hmathematical ability QTL GWAS751596 (human)4e-09mathematical ability223843079438430795Human
407103836GWAS752812_Hmathematical ability QTL GWAS752812 (human)3e-08mathematical ability223843079438430795Human

Markers in Region
RH78616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,823,169 - 38,823,297UniSTSGRCh37
Build 362237,153,115 - 37,153,243RGDNCBI36
Celera2222,628,757 - 22,628,885RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,789,123 - 21,789,251UniSTS
GDB:633533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,822,637 - 38,822,916UniSTSGRCh37
Build 362237,152,583 - 37,152,862RGDNCBI36
Celera2222,628,225 - 22,628,504RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,788,591 - 21,788,870UniSTS
KCNJ4_1786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,822,329 - 38,823,143UniSTSGRCh37
Build 362237,152,275 - 37,153,089RGDNCBI36
Celera2222,627,918 - 22,628,731RGD
HuRef2221,788,284 - 21,789,097UniSTS
RH70543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,822,655 - 38,822,807UniSTSGRCh37
Build 362237,152,601 - 37,152,753RGDNCBI36
Celera2222,628,243 - 22,628,395RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,788,609 - 21,788,761UniSTS
GeneMap99-GB4 RH Map22131.23UniSTS
GDB:633469  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
942 1809 2293 1817 4847 1537 1879 1 572 1038 421 2015 5177 4585 44 3677 607 1492 1260 159

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide BC032562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM475496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U24056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000303592   ⟹   ENSP00000306497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,426,327 - 38,455,199 (-)Ensembl
RefSeq Acc Id: NM_004981   ⟹   NP_004972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,426,327 - 38,444,028 (-)NCBI
GRCh372238,822,332 - 38,851,205 (-)NCBI
Build 362237,152,278 - 37,169,979 (-)NCBI Archive
HuRef2221,788,287 - 21,817,034 (-)ENTREZGENE
CHM1_12238,781,129 - 38,798,829 (-)NCBI
T2T-CHM13v2.02238,890,595 - 38,908,292 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152868   ⟹   NP_690607
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,426,327 - 38,455,199 (-)NCBI
GRCh372238,822,332 - 38,851,205 (-)NCBI
Build 362237,152,278 - 37,181,149 (-)NCBI Archive
HuRef2221,788,287 - 21,817,034 (-)ENTREZGENE
CHM1_12238,781,129 - 38,809,998 (-)NCBI
T2T-CHM13v2.02238,890,595 - 38,919,463 (-)NCBI
Sequence:
RefSeq Acc Id: NP_690607   ⟸   NM_152868
- UniProtKB: Q14D44 (UniProtKB/Swiss-Prot),   P48050 (UniProtKB/Swiss-Prot),   Q58F07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004972   ⟸   NM_004981
- UniProtKB: Q14D44 (UniProtKB/Swiss-Prot),   P48050 (UniProtKB/Swiss-Prot),   Q58F07 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000306497   ⟸   ENST00000303592
Protein Domains
Inward rectifier potassium channel C-terminal   Potassium channel inwardly rectifying transmembrane

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48050-F1-model_v2 AlphaFold P48050 1-445 view protein structure

Promoters
RGD ID:13604060
Promoter ID:EPDNEW_H28214
Type:initiation region
Name:KCNJ4_1
Description:potassium voltage-gated channel subfamily J member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,455,218 - 38,455,278EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6265 AgrOrtholog
COSMIC KCNJ4 COSMIC
Ensembl Genes ENSG00000168135 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000303592 ENTREZGENE
  ENST00000303592.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1400 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168135 GTEx
HGNC ID HGNC:6265 ENTREZGENE
Human Proteome Map KCNJ4 Human Proteome Map
InterPro Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRK_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_inward-rec_Kir UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_inward-rec_Kir2.3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_inward-rec_Kir_cyto UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kir_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3761 UniProtKB/Swiss-Prot
NCBI Gene 3761 ENTREZGENE
OMIM 600504 OMIM
PANTHER PTHR11767 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11767:SF53 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IRK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRK_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCNJ4 RGD, PharmGKB
PIRSF GIRK_kir UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS KIR23CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KIRCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt KCNJ4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14D44 ENTREZGENE
  Q58F07 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q14D44 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-23 KCNJ4  potassium inwardly rectifying channel subfamily J member 4  KCNJ4  potassium voltage-gated channel subfamily J member 4  Symbol and/or name change 5135510 APPROVED
2016-02-10 KCNJ4  potassium voltage-gated channel subfamily J member 4  KCNJ4  potassium channel, inwardly rectifying subfamily J, member 4  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNJ4  potassium channel, inwardly rectifying subfamily J, member 4  KCNJ4  potassium inwardly-rectifying channel, subfamily J, member 4  Symbol and/or name change 5135510 APPROVED