KCNJ14 (potassium inwardly rectifying channel subfamily J member 14) - Rat Genome Database

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Gene: KCNJ14 (potassium inwardly rectifying channel subfamily J member 14) Homo sapiens
Analyze
Symbol: KCNJ14
Name: potassium inwardly rectifying channel subfamily J member 14
RGD ID: 735432
HGNC Page HGNC:6260
Description: Predicted to enable inward rectifier potassium channel activity. Predicted to be involved in potassium ion import across plasma membrane and regulation of ion transmembrane transport. Predicted to be located in dendrite; membrane; and neuronal cell body. Predicted to be integral component of membrane. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ATP-sensitive inward rectifier potassium channel 14; inward rectifier K(+) channel Kir2.4; inwardly rectifying potassium channel KIR2.4; IRK-4; IRK4; KIAA1942; KIR2.4; MGC46111; potassium channel, inwardly rectifying subfamily J member 14; potassium channel, inwardly rectifying subfamily J, member 14; potassium inwardly-rectifying channel, subfamily J, member 14; potassium voltage-gated channel subfamily J member 14
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
GRCh381948,455,574 - 48,466,980 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1948,455,574 - 48,466,980 (+)EnsemblGRCh38hg38GRCh38
GRCh371948,958,831 - 48,970,237 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,650,578 - 53,661,179 (+)NCBINCBI36hg18NCBI36
Build 341953,656,317 - 53,661,179NCBI
Celera1945,824,005 - 45,834,608 (+)NCBI
Cytogenetic Map19q13.33NCBI
HuRef1945,339,157 - 45,349,560 (+)NCBIHuRef
CHM1_11948,960,783 - 48,971,187 (+)NCBICHM1_1
T2T-CHM13v2.01951,449,735 - 51,461,143 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. 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.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Kir2.4: a novel K+ inward rectifier channel associated with motoneurons of cranial nerve nuclei. Topert C, etal., J Neurosci 1998 Jun 1;18(11):4096-105.
Additional References at PubMed
PMID:8889548   PMID:10723734   PMID:10942728   PMID:11853319   PMID:12477932   PMID:15489334   PMID:15958527   PMID:16382105   PMID:17347781   PMID:18391953   PMID:20424473   PMID:21873635  


Genomics

Comparative Map Data
KCNJ14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381948,455,574 - 48,466,980 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1948,455,574 - 48,466,980 (+)EnsemblGRCh38hg38GRCh38
GRCh371948,958,831 - 48,970,237 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,650,578 - 53,661,179 (+)NCBINCBI36hg18NCBI36
Build 341953,656,317 - 53,661,179NCBI
Celera1945,824,005 - 45,834,608 (+)NCBI
Cytogenetic Map19q13.33NCBI
HuRef1945,339,157 - 45,349,560 (+)NCBIHuRef
CHM1_11948,960,783 - 48,971,187 (+)NCBICHM1_1
T2T-CHM13v2.01951,449,735 - 51,461,143 (+)NCBI
Kcnj14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,465,871 - 45,474,171 (-)NCBIGRCm39mm39
GRCm39 Ensembl745,465,884 - 45,474,206 (-)Ensembl
GRCm38745,816,467 - 45,824,747 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,816,460 - 45,824,782 (-)EnsemblGRCm38mm10GRCm38
MGSCv37753,071,837 - 53,080,117 (-)NCBIGRCm37mm9NCBIm37
MGSCv36745,684,509 - 45,692,789 (-)NCBImm8
Celera741,280,615 - 41,288,895 (-)NCBICelera
Cytogenetic Map7B3NCBI
Kcnj14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2196,293,159 - 96,300,810 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl196,293,435 - 96,495,459 (-)Ensembl
Rnor_6.01101,805,531 - 101,809,544 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1101,805,531 - 101,809,544 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01102,884,516 - 102,888,529 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4196,293,795 - 96,297,747 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1196,371,905 - 96,375,858 (-)NCBI
Celera190,545,941 - 90,549,958 (-)NCBICelera
Cytogenetic Map1q22NCBI
Kcnj14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555592,023,444 - 2,028,491 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555592,023,993 - 2,028,082 (-)NCBIChiLan1.0ChiLan1.0
KCNJ14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11954,055,580 - 54,060,204 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1954,055,580 - 54,060,204 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01945,456,082 - 45,469,017 (+)NCBIMhudiblu_PPA_v0panPan3
KCNJ14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,804,400 - 107,813,888 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1107,806,285 - 107,809,199 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1107,326,278 - 107,336,127 (-)NCBI
ROS_Cfam_1.01108,329,375 - 108,339,219 (-)NCBI
ROS_Cfam_1.0 Ensembl1108,331,263 - 108,334,177 (-)Ensembl
UMICH_Zoey_3.11107,995,497 - 108,005,344 (-)NCBI
UNSW_CanFamBas_1.01107,642,816 - 107,652,672 (-)NCBI
UU_Cfam_GSD_1.01108,478,677 - 108,488,526 (-)NCBI
Kcnj14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934920,937,184 - 20,946,068 (+)NCBI
SpeTri2.0NW_0049366642,555,727 - 2,564,245 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNJ14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl653,862,194 - 53,866,395 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1653,861,755 - 53,866,765 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2649,552,004 - 49,557,744 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNJ14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1641,715,293 - 41,727,017 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl641,723,429 - 41,726,451 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607321,507,807 - 21,513,506 (+)NCBIVero_WHO_p1.0
Kcnj14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248325,346,245 - 5,349,071 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248325,344,917 - 5,349,071 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-111700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,966,424 - 48,966,695UniSTSGRCh37
Build 361953,658,236 - 53,658,507RGDNCBI36
Celera1945,831,665 - 45,831,936RGD
Cytogenetic Map19q13UniSTS
HuRef1945,346,618 - 45,346,889UniSTS
TNG Radiation Hybrid Map1918642.0UniSTS
KCNJ14_874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,968,614 - 48,969,320UniSTSGRCh37
Build 361953,660,426 - 53,661,132RGDNCBI36
Celera1945,833,855 - 45,834,561RGD
HuRef1945,348,808 - 45,349,514UniSTS
RH12000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,956,958 - 48,957,089UniSTSGRCh37
Build 361953,648,770 - 53,648,901RGDNCBI36
Celera1945,822,197 - 45,822,328RGD
Cytogenetic Map19q13UniSTS
Cytogenetic Map19q13.33UniSTS
HuRef1945,337,151 - 45,337,282UniSTS
GeneMap99-GB4 RH Map19266.31UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:954
Count of miRNA genes:405
Interacting mature miRNAs:435
Transcripts:ENST00000342291, ENST00000391884
Prediction methods: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.


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 5 10 8 1 2 2 3 12 17
Low 1947 1269 1324 392 1168 250 4046 1512 3505 312 1425 1545 155 1 1130 2559 2
Below cutoff 480 1703 388 228 760 211 307 679 205 103 11 46 16 74 229 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000342291   ⟹   ENSP00000341479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,455,574 - 48,466,980 (+)Ensembl
RefSeq Acc Id: ENST00000391884   ⟹   ENSP00000375756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,461,249 - 48,466,980 (+)Ensembl
RefSeq Acc Id: NM_013348   ⟹   NP_037480
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,455,574 - 48,466,980 (+)NCBI
Build 361953,650,578 - 53,661,179 (+)NCBI Archive
Celera1945,824,005 - 45,834,608 (+)RGD
HuRef1945,339,157 - 45,349,560 (+)NCBI
CHM1_11948,960,783 - 48,971,187 (+)NCBI
T2T-CHM13v2.01951,449,735 - 51,461,143 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_037480 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD51376 (Get FASTA)   NCBI Sequence Viewer  
  AAF97619 (Get FASTA)   NCBI Sequence Viewer  
  AAH35918 (Get FASTA)   NCBI Sequence Viewer  
  EAW52348 (Get FASTA)   NCBI Sequence Viewer  
  Q9UNX9 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_037480   ⟸   NM_013348
- UniProtKB: Q9UNX9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000375756   ⟸   ENST00000391884
RefSeq Acc Id: ENSP00000341479   ⟸   ENST00000342291

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UNX9-F1-model_v2 AlphaFold Q9UNX9 1-436 view protein structure

Promoters
RGD ID:13204953
Promoter ID:EPDNEW_H26061
Type:multiple initiation site
Name:KCNJ14_1
Description:potassium voltage-gated channel subfamily J member 14
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
GRCh381948,455,579 - 48,455,639EPDNEW
RGD ID:6795686
Promoter ID:HG_KWN:30445
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_013348
Position:
Human AssemblyChrPosition (strand)Source
Build 361953,649,636 - 53,650,837 (+)MPROMDB
RGD ID:6795692
Promoter ID:HG_KWN:30446
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_170720
Position:
Human AssemblyChrPosition (strand)Source
Build 361953,656,686 - 53,657,186 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
NM_013348.3(KCNJ14):c.282C>T (p.Ser94=) single nucleotide variant Malignant melanoma [RCV000072235] Chr19:48462006 [GRCh38]
Chr19:48965263 [GRCh37]
Chr19:53657075 [NCBI36]
Chr19:19q13.33
not provided
NM_013348.3(KCNJ14):c.834C>T (p.Ile278=) single nucleotide variant Malignant melanoma [RCV000072236] Chr19:48464300 [GRCh38]
Chr19:48967557 [GRCh37]
Chr19:53659369 [NCBI36]
Chr19:19q13.33
not provided
NM_013348.3(KCNJ14):c.254G>A (p.Arg85His) single nucleotide variant Malignant melanoma [RCV000063590] Chr19:48461978 [GRCh38]
Chr19:48965235 [GRCh37]
Chr19:53657047 [NCBI36]
Chr19:19q13.33
not provided
GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3 copy number gain See cases [RCV000240360] Chr19:48876760..49053557 [GRCh37]
Chr19:19q13.33
uncertain significance
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
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(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
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
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42
not provided
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3 copy number gain not provided [RCV001259943] Chr19:48854319..49430535 [GRCh37]
Chr19:19q13.33
likely pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6260 AgrOrtholog
COSMIC KCNJ14 COSMIC
Ensembl Genes ENSG00000182324 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000341479 ENTREZGENE
  ENSP00000341479.1 UniProtKB/Swiss-Prot
  ENSP00000375756.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342291 ENTREZGENE
  ENST00000342291.3 UniProtKB/Swiss-Prot
  ENST00000391884.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.1400 UniProtKB/Swiss-Prot
GTEx ENSG00000182324 GTEx
HGNC ID HGNC:6260 ENTREZGENE
Human Proteome Map KCNJ14 Human Proteome Map
InterPro Ig_E-set UniProtKB/Swiss-Prot
  IRK_C UniProtKB/Swiss-Prot
  K_chnl_inward-rec_Kir UniProtKB/Swiss-Prot
  K_chnl_inward-rec_Kir_cyto UniProtKB/Swiss-Prot
  Kir_TM UniProtKB/Swiss-Prot
KEGG Report hsa:3770 UniProtKB/Swiss-Prot
NCBI Gene 3770 ENTREZGENE
OMIM 603953 OMIM
PANTHER PTHR11767 UniProtKB/Swiss-Prot
Pfam IRK UniProtKB/Swiss-Prot
  IRK_C UniProtKB/Swiss-Prot
PharmGKB PA30045 PharmGKB
PIRSF GIRK_kir UniProtKB/Swiss-Prot
PRINTS KIRCHANNEL UniProtKB/Swiss-Prot
Superfamily-SCOP SSF81296 UniProtKB/Swiss-Prot
UniProt KCJ14_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-23 KCNJ14  potassium inwardly rectifying channel subfamily J member 14  KCNJ14  potassium voltage-gated channel subfamily J member 14  Symbol and/or name change 5135510 APPROVED
2016-02-10 KCNJ14  potassium voltage-gated channel subfamily J member 14  KCNJ14  potassium channel, inwardly rectifying subfamily J, member 14  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNJ14  potassium channel, inwardly rectifying subfamily J, member 14  KCNJ14  potassium inwardly-rectifying channel, subfamily J, member 14  Symbol and/or name change 5135510 APPROVED