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KCNJ5 Gene(Protein Coding)

Potassium Voltage-Gated Channel Subfamily J Member 5

GCID:
GC11P128891
GIFtS:
63
Genes Participants
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Aliases for KCNJ5 Gene

Aliases for KCNJ5 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 5 2 3 5
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 5 2 3
  • Heart KATP Channel 3 4
  • IRK-4 3 4
  • GIRK4 3 4
  • CIR 3 4
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 5 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 5 4
  • G Protein-Activated Inward Rectifier Potassium Channel 4 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
  • GIRK-4 4
  • KATP-1 4
  • KATP1 3
  • LQT13 3

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

  • Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNJ5 Gene

KCNJ5 (Potassium Voltage-Gated 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 Serotonergic synapse and GABAergic synapse. 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 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

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ5 Gene

Genomics for KCNJ5 Gene

Products:

  1. Regulatory Element

Regulatory Elements for KCNJ5 Gene

Enhancers for KCNJ5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G128902 1.2 FANTOM5 Ensembl ENCODE 11 +11.9 11931 1.3 CTCF NFIB SUZ12 BHLHE40 CBX2 MAX ZFHX2 NFIC CTBP2 FOS KCNJ5 C11orf45 GC11M128892
GH11G128180 1.1 Ensembl ENCODE dbSUPER 10.3 -710.5 -710490 1.6 JUN BHLHE40 EP300 NR2F2 JUND GATA2 FOS MAFK LOC101929517 KCNJ5 LOC105369563 LINC02098
GH11G129023 1.1 Ensembl ENCODE 10.1 +132.7 132716 1.7 ELF3 TAF1 JUN MAX CEBPG ZIC2 YY1 ZNF121 POLR2A HNF4G KCNJ5 ARHGAP32 GC11P129031 GC11M128994 RNU6-876P
GH11G128835 0.9 Ensembl ENCODE 10.8 -54.8 -54821 2.4 PKNOX1 GATA2 PBX2 MAX HNF4A FOS GABPA NR2F2 KCNJ5 C11orf45 GC11P128821 KCNJ1
GH11G128890 1.1 Ensembl ENCODE 8.7 +2.0 2005 4.9 ELF3 ZSCAN4 ZNF2 YY1 TCF12 ZNF121 GLIS2 ZNF366 ETV6 EGR2 TP53AIP1 KCNJ5 C11orf45 GC11M128892
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNJ5 on UCSC Golden Path with GeneCards custom track

Promoters for KCNJ5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000046942 -256 1001 ZNF777 SUZ12 ZSCAN4 RBBP5 ZIC2 ZNF2 ZFHX2 ZNF366 ZBTB48 ZNF600

Transcription factor binding sites by QIAGEN in the KCNJ5 gene promoter:

Genomic Location for KCNJ5 Gene

Chromosome:
11
Start:
128,891,356 bp from pter
End:
128,921,163 bp from pter
Size:
29,808 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

Products:

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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 :

Protein Domains for KCNJ5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ5 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for KCNJ5 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 5,ATP-regulated,expressed in heart
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.

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 Model Products

CRISPR Products

Inhibitory RNA Products

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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 1
endoplasmic reticulum 1
cytosol 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,TAS 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

Pathways & Interactions for KCNJ5 Gene

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

Gene Ontology (GO) - Biological Process for KCNJ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 8834003
GO:0010107 potassium ion import IDA 12297500
GO:0034765 regulation of 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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  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glyburide Approved Pharma Channel blocker, Target, inhibitor Kir6 (KATP) channel blocker 114
Nicorandil Approved Pharma Activator Potassium channel activator, Kir6 (KATP) channel opener and NO donor 17
Ethanol Approved Pharma Target 2137
Glipizide Approved Pharma 38
Minoxidil Approved Pharma Activator 34

(30) 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
Levcromakalim Kir6 (KATP) channel opener; active enantiomer of cromakalim (Cat. No. 1377) 94535-50-9
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
Tertiapin-Q Selective blocker of inward-rectifier K+ channels 252198-49-5
Y-26763 Kir6 (KATP) channel opener 127408-31-5

(77) 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
Azimilide Dihydrochloride 149888-94-8
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
DMP 543 160588-45-4
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
Glyburide 10238-21-8
GW 542573X 660846-41-3
Hydralazine HCl 304-20-1
Iberiotoxin 129203-60-7
ICA 069673 582323-16-8
ICA 110381 325457-99-6
Indapamide 26807-65-8
Kaliotoxin 145199-73-1
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
ML365 947914-18-3
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
PD 118057 313674-97-4
Penitrem A 12627-35-9
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
UCL 2077 918311-87-2
UK 78282 hydrochloride 136647-02-4
Valinomycin potassium-specific transporter 2001-95-8
VU 590 dihydrochloride 313505-85-0
VU 591 hydrochloride 1315380-70-1
XE 991 dihydrochloride 122955-13-9
Y-26763 127408-31-5
Y-27152 127408-30-4
YS-035 hydrochloride 89805-39-0
ZM 226600 147695-92-9
genes like me logo Genes that share compounds with KCNJ5: view

Transcripts for KCNJ5 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for KCNJ5 Gene

(3) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(41) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNJ5 Gene

Potassium inwardly-rectifying channel, subfamily J, member 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
KCNJ5

Expression for KCNJ5 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for KCNJ5 Gene
mRNA expression by BioGPS for KCNJ5 GenemRNA expression by GTEx 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, PaxDb, and MOPED for KCNJ5 Gene



Protein tissue co-expression partners for KCNJ5 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNJ5 Gene:

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(4.2)
  • Lung(4.1)
  • Adrenal gland(3.2)
  • Muscle(2.2)

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
Organs:
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

Primer Products

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 34 35
  • 98.73 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNJ5 35
  • 91 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNJ5 35
  • 90 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia KCNJ5 34 35
  • 89.18 (n)
cow
(Bos Taurus)
 Mammalia KCNJ5 34 35
  • 89.15 (n)
mouse
(Mus musculus)
 Mammalia Kcnj5 34 16 35
  • 88.54 (n)
rat
(Rattus norvegicus)
 Mammalia Kcnj5 34
  • 88.54 (n)
chicken
(Gallus gallus)
 Aves KCNJ5 34 35
  • 78.36 (n)
lizard
(Anolis carolinensis)
 Reptilia KCNJ5 35
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kcnj5 34
  • 75.18 (n)
Str.3898 34
African clawed frog
(Xenopus laevis)
 Amphibia kcnj5-A 34
zebrafish
(Danio rerio)
 Actinopterygii kcnj5 34 35
  • 71.86 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Ir 36
  • 51 (a)
Irk2 36
  • 45 (a)
worm
(Caenorhabditis elegans)
 Secernentea irk-1 36
  • 45 (a)
irk-2 36
  • 44 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 67 (a)
 OneToMany
Species where no ortholog for KCNJ5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for KCNJ5 Gene

Paralogs for KCNJ5 Gene

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

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

Variants for KCNJ5 Gene

Sequence variations from dbSNP and Humsavar for KCNJ5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs199830292 Pathogenic, Long QT syndrome 13 (LQT13) [MIM:613485] 128,916,630(+) TGCTG(C/G)GGGGC reference, missense
rs386352319 Pathogenic, Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] 128,911,724(+) CCATT(A/C/G)GGTAT reference, missense
rs387906778 Pathogenic, Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] 128,911,745(+) TCATC(A/G)CAGAG reference, missense
rs587777437 Pathogenic, Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] 128,911,725(+) CATTG(A/G)GTATG reference, missense
rs587777438 Pathogenic, Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] 128,911,743(+) AGTCA(G/T)CACAG reference, missense

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)

Relevant External Links for KCNJ5 Gene

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

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

Disorders for KCNJ5 Gene

MalaCards: The human disease database

(24) MalaCards diseases for KCNJ5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperaldosteronism, familial, type iii
  • familial hyperaldosteronism type iii
long qt syndrome 13
  • lqt13
andersen syndrome
  • andersen cardiodysrhythmic periodic paralysis
long qt syndrome 1
  • long qt syndrome 1, acquired
hyperaldosteronism
- 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
  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.
  • 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}.
  • 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}.

Relevant External Links for KCNJ5

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

No data available for Genatlas for KCNJ5 Gene

Publications for KCNJ5 Gene

  1. Genetic variation in the inwardly rectifying K channel subunits KCNJ3 (GIRK1) and KCNJ5 (GIRK4) in patients with sinus node dysfunction. (PMID: 20110696) Holmegard H.N. … Svendsen J.H. (Cardiology 2010) 3 22 46 64
  2. A G-protein-activated inwardly rectifying K+ channel (GIRK4) from human hippocampus associates with other GIRK channels. (PMID: 8558261) Spauschus A. … Karschin A. (J. Neurosci. 1996) 3 4 22 64
  3. a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. (PMID: 24037882) Monticone S. … Rainey W.E. (J. Clin. Endocrinol. Metab. 2013) 3 4 64
  4. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. (PMID: 22203740) Mulatero P. … Reincke M. (Hypertension 2012) 3 4 64
  5. Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism. (PMID: 22275527) Boulkroun S. … Zennaro M.C. (Hypertension 2012) 3 4 64

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