KCNJ5 Gene (Protein Coding)

Potassium Inwardly Rectifying Channel Subfamily J Member 5

GC11P128891
GIFtS:
48
This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell.... See more...

Aliases for KCNJ5 Gene

Aliases for KCNJ5 Gene

  • Potassium Inwardly Rectifying Channel Subfamily J Member 5 2 3 5
  • G Protein-Activated Inward Rectifier Potassium Channel 4 2 3 4
  • GIRK4 2 3 4
  • CIR 2 3 4
  • Heart KATP Channel 3 4
  • KATP1 2 3
  • LQT13 2 3
  • IRK-4 3 4
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 5 2
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 5 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 5 4
  • Potassium Voltage-Gated Channel Subfamily J Member 5 3
  • Cardiac ATP-Sensitive Potassium Channel 3
  • Inward Rectifier K(+) Channel Kir3.4 4
  • Inward Rectifier K+ Channel KIR3.4 3
  • Cardiac Inward Rectifier 4
  • KIR3.4 3
  • Kir3.4 2
  • GIRK-4 4
  • KATP-1 4
  • KCNJ5 5

External Ids for KCNJ5 Gene

Previous GeneCards Identifiers for KCNJ5 Gene

  • GC11P130761
  • GC11P130273
  • GC11P128794
  • GC11P128298
  • GC11P128266
  • GC11P124711
  • GC11P128760

Summaries for KCNJ5 Gene

Entrez Gene Summary for KCNJ5 Gene

  • This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]

GeneCards Summary for KCNJ5 Gene

KCNJ5 (Potassium Inwardly Rectifying Channel Subfamily J Member 5) is a Protein Coding gene. Diseases associated with KCNJ5 include Hyperaldosteronism, Familial, Type Iii and Long Qt Syndrome 13. Among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Dopamine-DARPP32 Feedback onto cAMP Pathway. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity and G-protein activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ6.

UniProtKB/Swiss-Prot Summary for KCNJ5 Gene

  • This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium.

Tocris Summary for KCNJ5 Gene

  • The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (Kir2.x), the G-protein-activated inward-rectifier channels (Kir3.x) and the ATP-sensitive channels (Kir6.x), which combine with sulphonylurea receptors.

Gene Wiki entry for KCNJ5 Gene

Additional gene information for KCNJ5 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNJ5 Gene

Genomics for KCNJ5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KCNJ5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J128890 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 258.6 +1.6 1641 5.6 ZIC2 ZNF341 RXRA GABPB1 ZNF843 SP2 ZBTB33 TAL1 JUND ZNF2 KCNJ5 lnc-C11orf45-2 TP53AIP1 C11orf45
GH11J128905 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11 +13.5 13474 3.7 CTCF ZIC2 SIN3A VEZF1 ZNF341 EBF1 KLF9 YY1 SP2 PRDM6 C11orf45 TP53AIP1 KCNJ5 MN309310
GH11J129023 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 10.1 +132.5 132514 2.1 ZNF217 ELF1 ZIC2 CUX1 STAT3 JUND POLR2A DPF2 GLIS1 PRDM4 ARHGAP32 KCNJ5 ENSG00000206847 RF00026-212 RNU6-876P TP53AIP1
GH11J128936 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 12 +46.0 45957 2.2 YY1 TAF1 ATF2 RFX1 SP1 RAD21 POLR2A SOX13 RFX3 HSALNG0088135 KCNJ5 C11orf45 ARHGAP32 TP53AIP1 lnc-ARHGAP32-3
GH11J128180 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.3 -710.8 -710750 3.2 EP300 JUND MAFK RCOR1 BHLHE40 GATA2 CHD2 CEBPB FOS NR2F2 ETS1-AS1 KCNJ5 lnc-ETS1-2 lnc-ETS1-6 MK280073-095 LINC02725 ETS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNJ5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNJ5

Top Transcription factor binding sites by QIAGEN in the KCNJ5 gene promoter:
  • C/EBPalpha
  • HOXA3
  • IRF-7A
  • NF-E2 p45
  • S8
  • STAT3

Genomic Locations for KCNJ5 Gene

Latest Assembly
chr11:128,891,356-128,921,163
(GRCh38/hg38)
Size:
29,808 bases
Orientation:
Plus strand

Previous Assembly
chr11:128,761,251-128,791,058
(GRCh37/hg19 by Entrez Gene)
Size:
29,808 bases
Orientation:
Plus strand

chr11:128,761,251-128,790,930
(GRCh37/hg19 by Ensembl)
Size:
29,680 bases
Orientation:
Plus strand

Genomic View for KCNJ5 Gene

Genes around KCNJ5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KCNJ5 Gene

Proteins for KCNJ5 Gene

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  • Protein details for KCNJ5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48544-KCNJ5_HUMAN
    Recommended name:
    G protein-activated inward rectifier potassium channel 4
    Protein Accession:
    P48544
    Secondary Accessions:
    • B2R744
    • Q6DK13
    • Q6DK14
    • Q92807

    Protein attributes for KCNJ5 Gene

    Size:
    419 amino acids
    Molecular mass:
    47668 Da
    Quaternary structure:
    • May associate with GIRK1 and GIRK2 to form a G-protein-activated heteromultimer pore-forming unit. The resulting inward current is much larger.

neXtProt entry for KCNJ5 Gene

Protein Expression for KCNJ5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KCNJ5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ5 Gene

Domains & Families for KCNJ5 Gene

Gene Families for KCNJ5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for KCNJ5 Gene

InterPro:
Blocks:
  • Inward rectifier K+ channel superfamily signature
  • Kir3.4 inward rectifier K+ channel signature
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ5 Gene

GenScript: Design optimal peptide antigens:
  • Potassium channel, inwardly rectifying subfamily J member 5 (IRK5_HUMAN)
  • KCNJ5 protein (Q4QRJ2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48544

UniProtKB/Swiss-Prot:

KCNJ5_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ5 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ5 subfamily.
genes like me logo Genes that share domains with KCNJ5: view

Function for KCNJ5 Gene

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Molecular function for KCNJ5 Gene

UniProtKB/Swiss-Prot Function:
This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium.
GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 5,ATP-regulated,expressed in heart

Phenotypes From GWAS Catalog for KCNJ5 Gene

Gene Ontology (GO) - Molecular Function for KCNJ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 contributes_to inward rectifier potassium channel activity IDA 12297500
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005515 protein binding IPI 12297500
GO:0015467 G-protein activated inward rectifier potassium channel activity TAS 8834003
GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IMP 20560207
genes like me logo Genes that share ontologies with KCNJ5: view
genes like me logo Genes that share phenotypes with KCNJ5: view

Human Phenotype Ontology for KCNJ5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNJ5 Gene

MGI Knock Outs for KCNJ5:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNJ5 Gene

Localization for KCNJ5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ5 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNJ5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KCNJ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IDA 20560207
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNJ5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNJ5 Gene

Pathways & Interactions for KCNJ5 Gene

genes like me logo Genes that share pathways with KCNJ5: view

Pathways by source for KCNJ5 Gene

1 PharmGKB pathway for KCNJ5 Gene
2 Qiagen pathways for KCNJ5 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway
  • G-Beta Gamma Signaling

Gene Ontology (GO) - Biological Process for KCNJ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 8834003
GO:0034220 ion transmembrane transport IEA --
GO:0034765 regulation of ion transmembrane transport IBA 21873635
GO:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNJ5: view

No data available for SIGNOR curated interactions for KCNJ5 Gene

Drugs & Compounds for KCNJ5 Gene

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(113) Drugs for KCNJ5 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Minoxidil Approved, Investigational Pharma Kir6 channel (KATP) opener 50
Nicorandil Approved, Investigational Pharma Potassium channel activator, Kir6 (KATP) channel opener and NO donor 27
Glyburide Approved Pharma Kir6 (KATP) channel blocker 126
Ethanol Approved Pharma Target 3481
Glipizide Approved, Investigational Pharma 42

(27) Additional Compounds for KCNJ5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for KCNJ5 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker 10238-21-8
Minoxidil Kir6 channel (KATP) opener 38304-91-5
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
P1075 Potent Kir6 (KATP) channel opener 60559-98-0
ZM 226600 Kir6 (KATP) channel opener 147695-92-9

(65) ApexBio Compounds for KCNJ5 Gene

Compound Action Cas Number
(-)-[3R,4S]-Chromanol 293B 163163-24-4
1-EBIO 10045-45-1
4-Aminopyridine potassium channel-blocking agent 504-24-5
Agitoxin 2 168147-41-9
AM 92016 hydrochloride Potassium channel blocker 133229-11-5
Amiodarone HCl Anti-arrhythmic drug 19774-82-4
Apamin 24345-16-2
Azimilide 149908-53-2
BDS I
Charybdotoxin 95751-30-7
Chromanol 293B 163163-23-3
CP 339818 hydrochloride 478341-55-8
Cromakalim 94470-67-4
CyPPA 73029-73-9
Dofetilide 115256-11-6
DPO-1 43077-30-1
Dronedarone 141626-36-0
Dronedarone HCl Antiarrhythmic drugs 141625-93-6
E-4031 dihydrochloride 113559-13-0
Gliclazide 21187-98-4
Glipizide 29094-61-9
GW 542573X 660846-41-3
Hydralazine HCl 304-20-1
Iberiotoxin 129203-60-7
ICA 069673 582323-16-8
Indapamide 26807-65-8
L-364,373 103342-82-1
Levcromakalim 94535-50-9
Linopirdine dihydrochloride 113168-57-3
Margatoxin 145808-47-5
MaxiPost 187523-35-9
Minoxidil 38304-91-5
Mitiglinide Calcium 145525-41-3
ML 213 489402-47-3
ML 277 1401242-74-7
ML133 HCl Potassium channel inhibitor for Kir2.1 1222781-70-5
Nateglinide Insulin secretagog agent 105816-04-4
Nicorandil Potassium channel activator 65141-46-0
Nonactin 6833-84-7
NS 11021 956014-19-0
NS 1619 153587-01-0
NS 1643 448895-37-2
NS 3623 343630-41-1
NS 5806 426834-69-7
NS309 18711-16-5
P1075 60559-98-0
PNU 37883 hydrochloride 57568-80-6
Repaglinide Kir6 (KATP) channel blocker 135062-02-1
Retigabine Activator of voltage-gated potassium channel, an anticonvulsant agent 150812-12-7
RuBi-4AP 851956-02-0
ShK-Dap22 220384-25-8
SKA 31 40172-65-4
Tertiapin LQ
Tertiapin-Q 252198-49-5
Tetraethylammonium chloride K+ channel blocker 56-34-8
Tolbutamide CAMP inhibitor 64-77-7
Tolbutamide Sodium 473-41-6
TRAM-34 KCa3.1 blocker,potent and highly selective 289905-88-0
UCL 1684 199934-16-2
UK 78282 hydrochloride 136647-02-4
Valinomycin potassium-specific transporter 2001-95-8
VU 591 hydrochloride 1315380-70-1
Y-26763 127408-31-5
YS-035 hydrochloride 89805-39-0
ZM 226600 147695-92-9
genes like me logo Genes that share compounds with KCNJ5: view

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Transcripts for KCNJ5 Gene

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mRNA/cDNA for KCNJ5 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ5

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b
SP1: -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for KCNJ5 Gene

GeneLoc Exon Structure for
KCNJ5

Expression for KCNJ5 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNJ5 Gene

mRNA expression in normal human tissues for KCNJ5 Gene
mRNA expression by GTEx for KCNJ5 GenemRNA expression by BioGPS for KCNJ5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ5 Gene

This gene is overexpressed in Adrenal Gland (x21.0), Pituitary (x6.4), and Pancreas (x5.1).

Protein differential expression in normal tissues from HIPED for KCNJ5 Gene

This gene is overexpressed in Heart (48.5) and Pancreas (20.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNJ5 Gene



Protein tissue co-expression partners for KCNJ5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNJ5

SOURCE GeneReport for Unigene cluster for KCNJ5 Gene:

Hs.632109

mRNA Expression by UniProt/SwissProt for KCNJ5 Gene:

P48544-KCNJ5_HUMAN
Tissue specificity: Islets, exocrine pancreas and heart. Expressed in the adrenal cortex, particularly the zona glomerulosa.

Evidence on tissue expression from TISSUES for KCNJ5 Gene

  • Heart(4.5)
  • Nervous system(4.4)
  • Pancreas(4.4)
  • Lung(4.1)
  • Adrenal gland(3.2)
  • Muscle(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • sinus
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with KCNJ5: view

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Orthologs for KCNJ5 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KCNJ5 30 31
  • 98.73 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia KCNJ5 31
  • 91 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia KCNJ5 31
  • 90 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KCNJ5 30 31
  • 89.18 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KCNJ5 30 31
  • 89.15 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Kcnj5 30 17 31
  • 88.54 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kcnj5 30
  • 88.54 (n)
Chicken
(Gallus gallus)
 Aves KCNJ5 30 31
  • 78.36 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KCNJ5 31
  • 79 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia kcnj5 30
  • 75.18 (n)
Str.3898 30
African clawed frog
(Xenopus laevis)
 Amphibia kcnj5-A 30
Zebrafish
(Danio rerio)
 Actinopterygii kcnj5 30 31
  • 71.86 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Ir 32
  • 51 (a)
Irk2 32
  • 45 (a)
Worm
(Caenorhabditis elegans)
 Secernentea irk-1 32
  • 45 (a)
irk-2 32
  • 44 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 67 (a)
 OneToMany
Species where no ortholog for KCNJ5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for KCNJ5 Gene

ENSEMBL:
Gene Tree for KCNJ5 (if available)
TreeFam:
Gene Tree for KCNJ5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNJ5: view image

Paralogs for KCNJ5 Gene

Paralogs for KCNJ5 Gene

(16) SIMAP similar genes for KCNJ5 Gene using alignment to 5 proteins:

  • IRK5_HUMAN
  • H7CGH0_HUMAN
  • H9A8K9_HUMAN
  • H9A8L0_HUMAN
  • Q4QRJ2_HUMAN
genes like me logo Genes that share paralogs with KCNJ5: view

Variants for KCNJ5 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNJ5 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
647708 Uncertain Significance: Long QT syndrome 128,911,444(+) TG/CA
NM_000890.5(KCNJ5):c.171_172inv (p.Gly58Ser) 		MISSENSE
836272 Uncertain Significance: Long QT syndrome 128,911,998(+) G/A
NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln) 		MISSENSE
843194 Uncertain Significance: Long QT syndrome 128,916,691(+) A/G
NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg) 		MISSENSE
848336 Uncertain Significance: Long QT syndrome 128,911,936(+) G/A
NM_000890.5(KCNJ5):c.663G>A (p.Val221=) 		SYNONYMOUS
854094 Uncertain Significance: Long QT syndrome 128,911,960(+) C/G
NM_000890.5(KCNJ5):c.687C>G (p.Ile229Met) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNJ5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KCNJ5 Gene

Variant ID Type Subtype PubMed ID
esv2656616 CNV deletion 23128226
esv2657032 CNV deletion 23128226
esv2745242 CNV deletion 23290073
esv2745243 CNV deletion 23290073
esv3628051 CNV loss 21293372
nsv468892 CNV loss 19166990
nsv556563 CNV loss 21841781

Variation tolerance for KCNJ5 Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.83; 34.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNJ5 Gene

Human Gene Mutation Database (HGMD)
KCNJ5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ5 Gene

Disorders for KCNJ5 Gene

MalaCards: The human disease database

(43) MalaCards diseases for KCNJ5 Gene - From: LNC, OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KCNJ5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNJ5_HUMAN
  • Long QT syndrome 13 (LQT13) [MIM:613485]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:20560207}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677]: A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. HALD3 patients present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. Hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension. {ECO:0000269 PubMed:21311022, ECO:0000269 PubMed:22203740, ECO:0000269 PubMed:22275527, ECO:0000269 PubMed:22308486, ECO:0000269 PubMed:22315453, ECO:0000269 PubMed:22628607, ECO:0000269 PubMed:22848660, ECO:0000269 PubMed:24037882, ECO:0000269 PubMed:27099398}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=Somatic mutations in KCNJ5 have been found in aldosterone-producing adrenal adenomas and can be responsible for aldosteronism associated with cell autonomous proliferation. APAs are typically solitary, well circumscribed tumors diagnosed between ages 30 and 70. They come to medical attention due to new or worsening hypertension, often with hypokalemia. The precise role of KCNJ5 mutations in APA is under debate. They produce increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation. However, they may not be causative of APA development but may be a consequence of tumorigenesis, playing only a contributory role toward aldosterone overproduction and tumor growth (PubMed:22275527). Somatic mutations in KCNJ5 have not been found in non-aldosterone secreting adrenal adenomas suggesting that they are specifically associated with APA (PubMed:22275527 and PubMed:22848660). {ECO:0000269 PubMed:21311022, ECO:0000269 PubMed:22203740, ECO:0000269 PubMed:22275527, ECO:0000269 PubMed:22848660}.
  • Note=Mutations in KCNJ5 are involved in the pathogenesis of hypertension without primary aldosteronism but with increased aldosterone response to ACTH stimulation. {ECO:0000269 PubMed:27293068}.

Additional Disease Information for KCNJ5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KCNJ5: view

No data available for Genatlas for KCNJ5 Gene

Publications for KCNJ5 Gene

  1. A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension. (PMID: 22628607) Charmandari E … Chrousos GP (The Journal of clinical endocrinology and metabolism 2012) 3 4 74
  2. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. (PMID: 22203740) Mulatero P … Reincke M (Hypertension (Dallas, Tex. : 1979) 2012) 3 4 74
  3. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. (PMID: 22308486) Scholl UI … Lifton RP (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 74
  4. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. (PMID: 21311022) Choi M … Lifton RP (Science (New York, N.Y.) 2011) 3 4 74
  5. Identification of a Kir3.4 mutation in congenital long QT syndrome. (PMID: 20560207) Yang Y … Chen YH (American journal of human genetics 2010) 3 4 74

ExternalLinks

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