KCNJ15 (potassium inwardly rectifying channel subfamily J member 15) - Rat Genome Database

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Gene: KCNJ15 (potassium inwardly rectifying channel subfamily J member 15) Homo sapiens
Analyze
Symbol: KCNJ15
Name: potassium inwardly rectifying channel subfamily J member 15
RGD ID: 731050
HGNC Page HGNC
Description: Predicted to have inward rectifier potassium channel activity. Predicted to be involved in potassium ion import across plasma membrane and regulation of ion transmembrane transport. Predicted to localize to plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP-sensitive inward rectifier potassium channel 15; inward rectifier K(+) channel Kir1.3; inward rectifier K(+) channel Kir4.2; inward rectifier K+ channel KIR4.2; IRKK; KIR1.3; KIR4.2; MGC13584; potassium channel, inwardly rectifying subfamily J member 15; potassium channel, inwardly rectifying subfamily J, member 15; potassium inwardly-rectifying channel, subfamily J, member 15; potassium voltage-gated channel subfamily J member 15
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
GRCh38.p13 Ensembl2138,155,549 - 38,307,357 (+)EnsemblGRCh38hg38GRCh38
GRCh382138,229,926 - 38,307,357 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372139,601,848 - 39,679,279 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362138,550,534 - 38,595,618 (+)NCBINCBI36hg18NCBI36
Build 342138,566,298 - 38,595,614NCBI
Celera2124,826,521 - 24,871,607 (+)NCBI
Cytogenetic Map21q22.13-q22.2NCBI
HuRef2125,071,310 - 25,143,209 (+)NCBIHuRef
CHM1_12139,162,401 - 39,234,297 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)
References

Additional References at PubMed
PMID:8995301   PMID:9037601   PMID:9299242   PMID:9647694   PMID:9882736   PMID:10479680   PMID:10830953   PMID:11306656   PMID:11804844   PMID:11927671   PMID:12477932   PMID:14702039  
PMID:15068243   PMID:15123239   PMID:15489334   PMID:16344560   PMID:16382105   PMID:17122384   PMID:17185339   PMID:18029348   PMID:18391953   PMID:19420109   PMID:20085713   PMID:21873635  
PMID:22566534   PMID:23595124   PMID:26108660   PMID:26449415   PMID:27100087   PMID:32052303   PMID:32296183  


Genomics

Comparative Map Data
KCNJ15
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2138,155,549 - 38,307,357 (+)EnsemblGRCh38hg38GRCh38
GRCh382138,229,926 - 38,307,357 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372139,601,848 - 39,679,279 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362138,550,534 - 38,595,618 (+)NCBINCBI36hg18NCBI36
Build 342138,566,298 - 38,595,614NCBI
Celera2124,826,521 - 24,871,607 (+)NCBI
Cytogenetic Map21q22.13-q22.2NCBI
HuRef2125,071,310 - 25,143,209 (+)NCBIHuRef
CHM1_12139,162,401 - 39,234,297 (+)NCBICHM1_1
Kcnj15
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391695,058,417 - 95,101,119 (+)NCBIGRCm39mm39
GRCm39 Ensembl1695,058,417 - 95,101,119 (+)Ensembl
GRCm381695,257,558 - 95,300,260 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1695,257,558 - 95,300,260 (+)EnsemblGRCm38mm10GRCm38
MGSCv371695,479,258 - 95,521,867 (+)NCBIGRCm37mm9NCBIm37
MGSCv361695,366,449 - 95,409,058 (+)NCBImm8
Celera1696,370,059 - 96,378,516 (+)NCBICelera
Cytogenetic Map16C4NCBI
cM Map1655.86NCBI
Kcnj15
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21134,577,397 - 34,621,725 (+)NCBI
Rnor_6.0 Ensembl1135,568,182 - 35,585,390 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01135,545,185 - 35,588,517 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01139,131,386 - 39,174,839 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41135,577,083 - 35,594,291 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11135,633,325 - 35,650,534NCBI
Celera1133,838,675 - 33,855,881 (-)NCBICelera
Cytogenetic Map11q11NCBI
Kcnj15
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540737,267,926 - 37,313,484 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540737,261,892 - 37,313,484 (+)NCBIChiLan1.0ChiLan1.0
KCNJ15
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12137,965,966 - 38,018,359 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2138,010,261 - 38,011,388 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02124,615,779 - 24,668,267 (+)NCBIMhudiblu_PPA_v0panPan3
KCNJ15
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13133,314,061 - 33,388,165 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3133,384,630 - 33,386,885 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3132,384,569 - 32,464,144 (+)NCBI
ROS_Cfam_1.03132,625,207 - 32,704,035 (+)NCBI
UMICH_Zoey_3.13132,500,044 - 32,579,477 (+)NCBI
UNSW_CanFamBas_1.03132,504,526 - 32,583,248 (+)NCBI
UU_Cfam_GSD_1.03132,992,265 - 33,071,945 (+)NCBI
Kcnj15
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497132,738,310 - 32,782,796 (+)NCBI
SpeTri2.0NW_0049365004,685,832 - 4,690,338 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNJ15
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13201,894,419 - 201,939,812 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113201,894,036 - 201,941,449 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213211,979,376 - 212,024,780 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNJ15
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1282,207,680 - 82,266,863 (+)NCBI
ChlSab1.1 Ensembl282,254,088 - 82,255,215 (+)Ensembl
Vero_WHO_p1.0NW_02366605410,061,726 - 10,109,851 (+)NCBI
Kcnj15
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474525,515,159 - 25,560,677 (-)NCBI

Position Markers
RH75919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,672,334 - 39,672,523UniSTSGRCh37
Build 362138,594,204 - 38,594,393RGDNCBI36
Celera2124,870,193 - 24,870,382RGD
Cytogenetic Map21q22.2UniSTS
HuRef2125,141,795 - 25,141,984UniSTS
Kcnj15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,671,875 - 39,672,119UniSTSGRCh37
Build 362138,593,745 - 38,593,989RGDNCBI36
Celera2124,869,734 - 24,869,978RGD
HuRef2125,141,336 - 25,141,580UniSTS
KCNJ15_876.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,671,648 - 39,672,495UniSTSGRCh37
Build 362138,593,518 - 38,594,365RGDNCBI36
Celera2124,869,507 - 24,870,354RGD
HuRef2125,141,109 - 25,141,956UniSTS
SHGC-17366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,672,347 - 39,672,483UniSTSGRCh37
Build 362138,594,217 - 38,594,353RGDNCBI36
Celera2124,870,206 - 24,870,342RGD
Cytogenetic Map21q22.2UniSTS
HuRef2125,141,808 - 25,141,944UniSTS
TNG Radiation Hybrid Map2114457.0UniSTS
RH70471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,672,278 - 39,672,429UniSTSGRCh37
Build 362138,594,148 - 38,594,299RGDNCBI36
Celera2124,870,137 - 24,870,288RGD
Cytogenetic Map21q22.2UniSTS
HuRef2125,141,739 - 25,141,890UniSTS
GeneMap99-GB4 RH Map21197.63UniSTS
NCBI RH Map21295.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5533
Count of miRNA genes:1213
Interacting mature miRNAs:1520
Transcripts:ENST00000328656, ENST00000398925, ENST00000398927, ENST00000398928, ENST00000398930, ENST00000398932, ENST00000398934, ENST00000398938, ENST00000417042, ENST00000419868, ENST00000438657, ENST00000443341, ENST00000547341, ENST00000547595, ENST00000548700, ENST00000549158, ENST00000549805, ENST00000549932, ENST00000551422
Prediction methods:Microtar, 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.


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
Medium 93 652 590 5 692 4 67 1 5 304 55 877 6 54 13
Low 409 758 393 390 578 233 2237 155 243 90 837 600 161 1036 1135 3 1
Below cutoff 1901 1562 726 214 547 214 2041 2017 3292 24 547 129 4 114 1633 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001276435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_170736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_170737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI344546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI453386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI832561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA632853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA670230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA673158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA675388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA968871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB008463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB232867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y10745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y13895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y13896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000328656   ⟹   ENSP00000331698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,256,741 - 38,307,357 (+)Ensembl
RefSeq Acc Id: ENST00000398925   ⟹   ENSP00000381899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,256,741 - 38,299,445 (+)Ensembl
RefSeq Acc Id: ENST00000398927   ⟹   ENSP00000381901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,296,557 - 38,299,731 (+)Ensembl
RefSeq Acc Id: ENST00000398928   ⟹   ENSP00000381902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,256,741 - 38,299,731 (+)Ensembl
RefSeq Acc Id: ENST00000398930   ⟹   ENSP00000381904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,272,423 - 38,301,821 (+)Ensembl
RefSeq Acc Id: ENST00000398932   ⟹   ENSP00000381905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,272,250 - 38,301,490 (+)Ensembl
RefSeq Acc Id: ENST00000398934   ⟹   ENSP00000381907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,272,420 - 38,301,822 (+)Ensembl
RefSeq Acc Id: ENST00000398938   ⟹   ENSP00000381911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,256,991 - 38,307,357 (+)Ensembl
RefSeq Acc Id: ENST00000417042   ⟹   ENSP00000392951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,256,875 - 38,299,319 (+)Ensembl
RefSeq Acc Id: ENST00000419868   ⟹   ENSP00000400849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,296,926 - 38,299,678 (+)Ensembl
RefSeq Acc Id: ENST00000438657   ⟹   ENSP00000414487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,272,295 - 38,299,997 (+)Ensembl
RefSeq Acc Id: ENST00000443341   ⟹   ENSP00000413013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,256,742 - 38,299,380 (+)Ensembl
RefSeq Acc Id: ENST00000472602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,155,549 - 38,188,016 (+)Ensembl
RefSeq Acc Id: ENST00000547341   ⟹   ENSP00000447111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,157,034 - 38,299,406 (+)Ensembl
RefSeq Acc Id: ENST00000547595   ⟹   ENSP00000450254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,157,034 - 38,299,406 (+)Ensembl
RefSeq Acc Id: ENST00000548700   ⟹   ENSP00000448886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,157,034 - 38,299,406 (+)Ensembl
RefSeq Acc Id: ENST00000549158   ⟹   ENSP00000449140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,157,034 - 38,299,337 (+)Ensembl
RefSeq Acc Id: ENST00000549805   ⟹   ENSP00000448770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,157,034 - 38,299,406 (+)Ensembl
RefSeq Acc Id: ENST00000549932   ⟹   ENSP00000448676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,157,034 - 38,299,406 (+)Ensembl
RefSeq Acc Id: ENST00000551422   ⟹   ENSP00000449419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,157,034 - 38,299,406 (+)Ensembl
RefSeq Acc Id: ENST00000612702   ⟹   ENSP00000484960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,256,698 - 38,301,822 (+)Ensembl
RefSeq Acc Id: ENST00000613499   ⟹   ENSP00000479100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2138,256,698 - 38,301,822 (+)Ensembl
RefSeq Acc Id: NM_001276435   ⟹   NP_001263364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,256,741 - 38,307,357 (+)NCBI
GRCh372139,601,837 - 39,675,043 (+)NCBI
HuRef2125,071,310 - 25,143,209 (+)NCBI
CHM1_12139,189,184 - 39,234,297 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276436   ⟹   NP_001263365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,256,741 - 38,307,357 (+)NCBI
GRCh372139,601,837 - 39,675,043 (+)NCBI
HuRef2125,071,310 - 25,143,209 (+)NCBI
CHM1_12139,189,184 - 39,234,297 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276437   ⟹   NP_001263366
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,229,926 - 38,307,357 (+)NCBI
GRCh372139,601,837 - 39,675,043 (+)NCBI
HuRef2125,071,310 - 25,143,209 (+)NCBI
CHM1_12139,162,401 - 39,234,297 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276438   ⟹   NP_001263367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,229,926 - 38,307,357 (+)NCBI
GRCh372139,601,837 - 39,675,043 (+)NCBI
HuRef2125,071,310 - 25,143,209 (+)NCBI
CHM1_12139,162,401 - 39,234,297 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276439   ⟹   NP_001263368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,229,926 - 38,307,357 (+)NCBI
HuRef2125,071,310 - 25,143,209 (+)NCBI
CHM1_12139,162,401 - 39,234,297 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002243   ⟹   NP_002234
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,256,741 - 38,307,357 (+)NCBI
GRCh372139,601,837 - 39,675,043 (+)NCBI
Build 362138,550,534 - 38,595,618 (+)NCBI Archive
HuRef2125,071,310 - 25,143,209 (+)NCBI
CHM1_12139,189,184 - 39,234,297 (+)NCBI
Sequence:
RefSeq Acc Id: NM_170736   ⟹   NP_733932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,256,991 - 38,307,357 (+)NCBI
GRCh372139,601,837 - 39,675,043 (+)NCBI
Build 362138,550,740 - 38,595,618 (+)NCBI Archive
HuRef2125,071,310 - 25,143,209 (+)NCBI
CHM1_12139,189,290 - 39,234,297 (+)NCBI
Sequence:
RefSeq Acc Id: NM_170737   ⟹   NP_733933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,272,508 - 38,307,357 (+)NCBI
GRCh372139,601,837 - 39,675,043 (+)NCBI
Build 362138,566,299 - 38,595,618 (+)NCBI Archive
HuRef2125,071,310 - 25,143,209 (+)NCBI
CHM1_12139,204,895 - 39,234,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260975   ⟹   XP_005261032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,296,656 - 38,303,126 (+)NCBI
GRCh372139,601,837 - 39,675,043 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724002   ⟹   XP_006724065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,270,751 - 38,303,126 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529560   ⟹   XP_011527862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,256,675 - 38,303,126 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529561   ⟹   XP_011527863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,257,244 - 38,303,126 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028343   ⟹   XP_016883832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,256,804 - 38,303,126 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028344   ⟹   XP_016883833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,296,530 - 38,303,126 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028345   ⟹   XP_016883834
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,296,638 - 38,303,126 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002234   ⟸   NM_002243
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_733932   ⟸   NM_170736
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_733933   ⟸   NM_170737
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263368   ⟸   NM_001276439
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263366   ⟸   NM_001276437
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263367   ⟸   NM_001276438
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263365   ⟸   NM_001276436
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263364   ⟸   NM_001276435
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261032   ⟸   XM_005260975
- Peptide Label: isoform X1
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724065   ⟸   XM_006724002
- Peptide Label: isoform X1
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527862   ⟸   XM_011529560
- Peptide Label: isoform X1
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527863   ⟸   XM_011529561
- Peptide Label: isoform X1
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883832   ⟸   XM_017028343
- Peptide Label: isoform X1
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883833   ⟸   XM_017028344
- Peptide Label: isoform X1
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883834   ⟸   XM_017028345
- Peptide Label: isoform X1
- UniProtKB: Q99712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000381904   ⟸   ENST00000398930
RefSeq Acc Id: ENSP00000381905   ⟸   ENST00000398932
RefSeq Acc Id: ENSP00000381907   ⟸   ENST00000398934
RefSeq Acc Id: ENSP00000381911   ⟸   ENST00000398938
RefSeq Acc Id: ENSP00000381899   ⟸   ENST00000398925
RefSeq Acc Id: ENSP00000381901   ⟸   ENST00000398927
RefSeq Acc Id: ENSP00000381902   ⟸   ENST00000398928
RefSeq Acc Id: ENSP00000414487   ⟸   ENST00000438657
RefSeq Acc Id: ENSP00000450254   ⟸   ENST00000547595
RefSeq Acc Id: ENSP00000447111   ⟸   ENST00000547341
RefSeq Acc Id: ENSP00000448886   ⟸   ENST00000548700
RefSeq Acc Id: ENSP00000484960   ⟸   ENST00000612702
RefSeq Acc Id: ENSP00000479100   ⟸   ENST00000613499
RefSeq Acc Id: ENSP00000392951   ⟸   ENST00000417042
RefSeq Acc Id: ENSP00000448676   ⟸   ENST00000549932
RefSeq Acc Id: ENSP00000448770   ⟸   ENST00000549805
RefSeq Acc Id: ENSP00000449140   ⟸   ENST00000549158
RefSeq Acc Id: ENSP00000413013   ⟸   ENST00000443341
RefSeq Acc Id: ENSP00000400849   ⟸   ENST00000419868
RefSeq Acc Id: ENSP00000331698   ⟸   ENST00000328656
RefSeq Acc Id: ENSP00000449419   ⟸   ENST00000551422
Protein Domains
IRK   IRK_C

Promoters
RGD ID:13602816
Promoter ID:EPDNEW_H27592
Type:initiation region
Name:KCNJ15_2
Description:potassium voltage-gated channel subfamily J member 15
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27593  EPDNEW_H27594  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,256,741 - 38,256,801EPDNEW
RGD ID:13602818
Promoter ID:EPDNEW_H27593
Type:initiation region
Name:KCNJ15_1
Description:potassium voltage-gated channel subfamily J member 15
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27592  EPDNEW_H27594  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,256,991 - 38,257,051EPDNEW
RGD ID:13602820
Promoter ID:EPDNEW_H27594
Type:initiation region
Name:KCNJ15_3
Description:potassium voltage-gated channel subfamily J member 15
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27592  EPDNEW_H27593  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382138,272,508 - 38,272,568EPDNEW
RGD ID:6799474
Promoter ID:HG_KWN:40859
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000398930,   ENST00000398932,   OTTHUMT00000207190
Position:
Human AssemblyChrPosition (strand)Source
Build 362138,566,041 - 38,566,541 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1 copy number loss See cases [RCV000051047] Chr21:37135738..42434515 [GRCh38]
Chr21:38508038..43854625 [GRCh37]
Chr21:37429908..42727694 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.2(chr21:37408770-38645794)x1 copy number loss See cases [RCV000052837] Chr21:37408770..38645794 [GRCh38]
Chr21:38781072..40017718 [GRCh37]
Chr21:37702942..38939588 [NCBI36]
Chr21:21q22.13-22.2
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3 copy number gain See cases [RCV000053071] Chr21:36396699..38951223 [GRCh38]
Chr21:37768997..40323148 [GRCh37]
Chr21:36690867..39245018 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_002243.4(KCNJ15):c.20G>A (p.Gly7Asp) single nucleotide variant Malignant melanoma [RCV000072833] Chr21:38299281 [GRCh38]
Chr21:39671203 [GRCh37]
Chr21:38593073 [NCBI36]
Chr21:21q22.13
not provided
NM_002243.4(KCNJ15):c.228G>A (p.Met76Ile) single nucleotide variant Malignant melanoma [RCV000063829] Chr21:38299489 [GRCh38]
Chr21:39671411 [GRCh37]
Chr21:38593281 [NCBI36]
Chr21:21q22.13
not provided
NM_002243.4(KCNJ15):c.504C>T (p.Ile168=) single nucleotide variant Malignant melanoma [RCV000063830] Chr21:38299765 [GRCh38]
Chr21:39671687 [GRCh37]
Chr21:38593557 [NCBI36]
Chr21:21q22.13
not provided
GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106) copy number loss Mental retardation, autosomal dominant 7 [RCV000190475] Chr21:38741104..40274106 [GRCh37]
Chr21:21q22.13-22.2
pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526) copy number loss Mental retardation, autosomal dominant 7 [RCV000190476] Chr21:37839410..41427526 [GRCh37]
Chr21:21q22.13-22.2
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1 copy number loss See cases [RCV000133619] Chr21:35772177..38558509 [GRCh38]
Chr21:37144475..39930433 [GRCh37]
Chr21:36066345..38852303 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1 copy number loss See cases [RCV000135412] Chr21:35543872..39993338 [GRCh38]
Chr21:36916169..41365265 [GRCh37]
Chr21:35838039..40287135 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
NC_000021.8:g.(?_38007970)_(39747620_?)del deletion Seizures [RCV000149563] Chr21:38007970..39747620 [GRCh37]
Chr21:21q22.13-22.2
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1 copy number loss See cases [RCV000449183] Chr21:38176362..41901945 [GRCh37]
Chr21:21q22.13-22.2
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1 copy number loss See cases [RCV000446516] Chr21:38790552..43619940 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.13(chr21:38990885-39697938)x3 copy number gain See cases [RCV000510146] Chr21:38990885..39697938 [GRCh37]
Chr21:21q22.13
likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3 copy number gain See cases [RCV000512585] Chr21:36183329..42311538 [GRCh37]
Chr21:21q22.12-22.2
likely pathogenic
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2
pathogenic
GRCh37/hg19 21q22.13(chr21:39593444-39646635)x1 copy number loss not provided [RCV000684135] Chr21:39593444..39646635 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.13(chr21:39651181-39655032)x1 copy number loss not provided [RCV000741564] Chr21:39651181..39655032 [GRCh37]
Chr21:21q22.13
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_170736.3(KCNJ15):c.16A>G (p.Ile6Val) single nucleotide variant not provided [RCV000950023] Chr21:38299277 [GRCh38]
Chr21:39671199 [GRCh37]
Chr21:21q22.13
benign
GRCh37/hg19 21q22.13(chr21:39602066-39667589)x1 copy number loss not provided [RCV001007133] Chr21:39602066..39667589 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1 copy number loss not provided [RCV001007132] Chr21:39410438..45171756 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:39270345-41091831)x1 copy number loss not provided [RCV001259411] Chr21:39270345..41091831 [GRCh37]
Chr21:21q22.13-22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6261 AgrOrtholog
COSMIC KCNJ15 COSMIC
Ensembl Genes ENSG00000157551 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000331698 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381899 UniProtKB/TrEMBL
  ENSP00000381901 UniProtKB/TrEMBL
  ENSP00000381902 UniProtKB/TrEMBL
  ENSP00000381904 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381905 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381907 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381911 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392951 UniProtKB/TrEMBL
  ENSP00000400849 UniProtKB/TrEMBL
  ENSP00000413013 UniProtKB/TrEMBL
  ENSP00000414487 UniProtKB/TrEMBL
  ENSP00000447111 UniProtKB/TrEMBL
  ENSP00000448676 UniProtKB/TrEMBL
  ENSP00000448770 UniProtKB/TrEMBL
  ENSP00000448886 UniProtKB/TrEMBL
  ENSP00000449140 UniProtKB/TrEMBL
  ENSP00000449419 UniProtKB/TrEMBL
  ENSP00000450254 UniProtKB/TrEMBL
  ENSP00000479100 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484960 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000328656 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398925 UniProtKB/TrEMBL
  ENST00000398927 UniProtKB/TrEMBL
  ENST00000398928 UniProtKB/TrEMBL
  ENST00000398930 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398932 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398934 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398938 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417042 UniProtKB/TrEMBL
  ENST00000419868 UniProtKB/TrEMBL
  ENST00000438657 UniProtKB/TrEMBL
  ENST00000443341 UniProtKB/TrEMBL
  ENST00000547341 UniProtKB/TrEMBL
  ENST00000547595 UniProtKB/TrEMBL
  ENST00000548700 UniProtKB/TrEMBL
  ENST00000549158 UniProtKB/TrEMBL
  ENST00000549805 UniProtKB/TrEMBL
  ENST00000549932 UniProtKB/TrEMBL
  ENST00000551422 UniProtKB/TrEMBL
  ENST00000612702 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000613499 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.1400 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157551 GTEx
HGNC ID HGNC:6261 ENTREZGENE
Human Proteome Map KCNJ15 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_Kir1.3 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:3772 UniProtKB/Swiss-Prot
NCBI Gene 3772 ENTREZGENE
OMIM 602106 OMIM
PANTHER PTHR11767 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11767:SF20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IRK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRK_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30046 PharmGKB
PIRSF GIRK_kir UniProtKB/Swiss-Prot
PRINTS KIR13CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KIRCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MTZ5_HUMAN UniProtKB/TrEMBL
  A8MVK1_HUMAN UniProtKB/TrEMBL
  C9J0W5_HUMAN UniProtKB/TrEMBL
  C9JTX1_HUMAN UniProtKB/TrEMBL
  E7EPG3_HUMAN UniProtKB/TrEMBL
  E7EWV2_HUMAN UniProtKB/TrEMBL
  F8VW46_HUMAN UniProtKB/TrEMBL
  F8VX74_HUMAN UniProtKB/TrEMBL
  KCJ15_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DSH5 UniProtKB/Swiss-Prot
  O00564 UniProtKB/Swiss-Prot
  Q96L28 UniProtKB/Swiss-Prot
  Q99446 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-23 KCNJ15  potassium inwardly rectifying channel subfamily J member 15  KCNJ15  potassium voltage-gated channel subfamily J member 15  Symbol and/or name change 5135510 APPROVED
2016-02-10 KCNJ15  potassium voltage-gated channel subfamily J member 15    potassium channel, inwardly rectifying subfamily J, member 15  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNJ15  potassium channel, inwardly rectifying subfamily J, member 15    potassium inwardly-rectifying channel, subfamily J, member 15  Symbol and/or name change 5135510 APPROVED
2011-08-17 KCNJ15  potassium inwardly-rectifying channel, subfamily J, member 15  KCNJ15  potassium inwardly-rectifying channel, subfamily J, member 15  Symbol and/or name change 5135510 APPROVED