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KCNJ8 Gene(Protein Coding)

Potassium Voltage-Gated Channel Subfamily J Member 8

GCID:
GC12M021764
GIFtS:
50
Genes Participants
UDN Logo

Aliases for KCNJ8 Gene

Aliases for KCNJ8 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 8 2 3 5
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 8 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 8 3 4
  • Inward Rectifier K(+) Channel Kir6.1 3 4
  • UKATP-1 3 4
  • ATP-Sensitive Inward Rectifier Potassium Channel 8 3
  • Inwardly Rectifying Potassium Channel KIR6.1 3
  • KIR6.1 3

External Ids for KCNJ8 Gene

Previous GeneCards Identifiers for KCNJ8 Gene

  • GC12M022204
  • GC12M021920
  • GC12M021818
  • GC12M021809
  • GC12M021692
  • GC12M021917

Summaries for KCNJ8 Gene

Entrez Gene Summary for KCNJ8 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. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]

GeneCards Summary for KCNJ8 Gene

KCNJ8 (Potassium Voltage-Gated Channel Subfamily J Member 8) is a Protein Coding gene. Diseases associated with KCNJ8 include Cantu Syndrome and Sudden Infant Death Syndrome. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity and ATP-activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ11.

UniProtKB/Swiss-Prot for KCNJ8 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 (By similarity).

Tocris Summary for KCNJ8 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 KCNJ8 Gene

Additional gene information for KCNJ8 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ8 Gene

Genomics for KCNJ8 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for KCNJ8 Gene

Promoters and enhancers for KCNJ8 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
GH12J021773 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +0.5 522 3.7 PKNOX1 FOXA2 ZNF2 RAD21 YY1 ZNF335 GLIS2 SCRT2 ZNF202 ZNF362 KCNJ8 PYROXD1 GC12M021765 LOC105369689
GH12J021819 Enhancer 0.8 Ensembl ENCODE 11.1 -43.8 -43812 0.6 SOX5 FOXA2 RXRA TEAD1 FOXA3 ZNF384 NR2F2 TEAD3 HIC1 SP1 KCNJ8 ENSG00000256615 ENSG00000257022 ABCC9 LOC105369689
GH12J021818 Enhancer 0.4 ENCODE 11.1 -43.2 -43201 0.2 ATF3 RAD21 KCNJ8 ENSG00000257022 ABCC9 LOC105369689
GH12J021275 Enhancer 0.2 FANTOM5 1.5 +499.5 499533 0.1 PIR55925 GYS2 SLCO1B1 SLCO1A2 SLCO1B3 KCNJ8 GC12P021259
GH12J021763 Enhancer 0.6 ENCODE 0.4 +11.4 11437 1.7 SCRT1 RXRA MAX REST RAD21 YY1 SP1 JUND ATF3 SCRT2 GC12M021765 LDHB ENSG00000255644 KCNJ8 LOC105369689
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNJ8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNJ8 gene promoter:
  • GR-alpha
  • GR
  • Olf-1
  • ISGF-3
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • PPAR-gamma2
  • Gfi-1

Genomic Locations for KCNJ8 Gene

Genomic Locations for KCNJ8 Gene
chr12:21,764,955-21,775,581
(GRCh38/hg38)
Size:
10,627 bases
Orientation:
Minus strand
chr12:21,917,889-21,928,515
(GRCh37/hg19)
Size:
10,627 bases
Orientation:
Minus strand

Genomic View for KCNJ8 Gene

Genes around KCNJ8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ8 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KCNJ8 Gene

Proteins for KCNJ8 Gene

Products:

  1. Antibody
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  3. Assay

  • Protein details for KCNJ8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15842-KCNJ8_HUMAN
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 8
    Protein Accession:
    Q15842
    Secondary Accessions:
    • O00657

    Protein attributes for KCNJ8 Gene

    Size:
    424 amino acids
    Molecular mass:
    47968 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KCNJ8 Gene

Post-translational modifications for KCNJ8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ8 Gene

Domains & Families for KCNJ8 Gene

Gene Families for KCNJ8 Gene

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

Protein Domains for KCNJ8 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15842

UniProtKB/Swiss-Prot:

KCNJ8_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily.
genes like me logo Genes that share domains with KCNJ8: view

Function for KCNJ8 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for KCNJ8 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 (By similarity).
GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 8,involved in the regulation of membrane potential,preferentially expressed in the heart,component with SER2 of an ATP dependent potassium channel

Gene Ontology (GO) - Molecular Function for KCNJ8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity IEA,TAS 7890693
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005524 ATP binding IEA --
GO:0015272 ATP-activated inward rectifier potassium channel activity IDA,IEA 20558321
GO:0017098 sulfonylurea receptor binding IEA --
genes like me logo Genes that share ontologies with KCNJ8: view
genes like me logo Genes that share phenotypes with KCNJ8: view

Human Phenotype Ontology for KCNJ8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNJ8 Gene

MGI Knock Outs for KCNJ8:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNJ8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for KCNJ8 Gene

Localization for KCNJ8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ8 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 KCNJ8 gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
nucleus 2
cytosol 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for KCNJ8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS 7890693
GO:0008282 inward rectifying potassium channel IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KCNJ8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNJ8 Gene

Pathways & Interactions for KCNJ8 Gene

genes like me logo Genes that share pathways with KCNJ8: view

Pathways by source for KCNJ8 Gene

1 PharmGKB pathway for KCNJ8 Gene
1 KEGG pathway for KCNJ8 Gene
1 GeneGo (Thomson Reuters) pathway for KCNJ8 Gene
1 Qiagen pathway for KCNJ8 Gene

Gene Ontology (GO) - Biological Process for KCNJ8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA,TAS 7890693
GO:0007507 heart development IEA --
GO:0009268 response to pH IEA --
genes like me logo Genes that share ontologies with KCNJ8: view

No data available for SIGNOR curated interactions for KCNJ8 Gene

Drugs & Compounds for KCNJ8 Gene

Products:

  1. Drug

(18) Drugs for KCNJ8 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glyburide Approved Pharma Channel blocker, Inhibitor, Inhibition, blocker, Target, inhibitor Kir6 (KATP) channel blocker 116
Thiamylal Approved, Vet_approved Pharma antagonist, Target, inhibitor 0
Minoxidil Approved, Investigational Pharma Activator Kir6 channel (KATP) opener 35
Gliquidone Approved, Investigational Pharma Target, inhibitor 5
Levosimendan Approved, Investigational Pharma Target, inducer 0

(2) Additional Compounds for KCNJ8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for KCNJ8 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
genes like me logo Genes that share compounds with KCNJ8: view

Transcripts for KCNJ8 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KCNJ8 Gene

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

Unigene Clusters for KCNJ8 Gene

Potassium inwardly-rectifying channel, subfamily J, member 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ8 Gene

No ASD Table

Relevant External Links for KCNJ8 Gene

GeneLoc Exon Structure for
KCNJ8
ECgene alternative splicing isoforms for
KCNJ8

Expression for KCNJ8 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNJ8 Gene

mRNA expression in normal human tissues for KCNJ8 Gene
mRNA expression by BioGPS for KCNJ8 GenemRNA expression by GTEx for KCNJ8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ8 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.0).

NURSA nuclear receptor signaling pathways regulating expression of KCNJ8 Gene:

KCNJ8

SOURCE GeneReport for Unigene cluster for KCNJ8 Gene:

Hs.102308

mRNA Expression by UniProt/SwissProt for KCNJ8 Gene:

Q15842-KCNJ8_HUMAN
Tissue specificity: Predominantly detected in fetal and adult heart.

Evidence on tissue expression from TISSUES for KCNJ8 Gene

  • Nervous system(4.4)
  • Lung(4.2)
  • Heart(3.3)
  • Muscle(3)
  • Kidney(2.3)
  • Pancreas(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • scalp
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
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
  • hair
  • lymph node
  • lymph vessel
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with KCNJ8: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KCNJ8 Gene

Orthologs for KCNJ8 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KCNJ8 34 33
  • 99.84 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia KCNJ8 34
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia KCNJ8 34 33
  • 92.69 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia KCNJ8 34 33
  • 91.12 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Kcnj8 16 34 33
  • 89.47 (n)
rat
(Rattus norvegicus)
 Mammalia Kcnj8 33
  • 88.76 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNJ8 34
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KCNJ8 34 33
  • 80.92 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia KCNJ8 34
  • 89 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii kcnj8 34 33
  • 71.44 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001284 33
  • 50.05 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Irk2 34 35
  • 36 (a)
 ManyToMany
Irk3 35
  • 35 (a)
Ir 34
  • 31 (a)
 ManyToMany
Species where no ortholog for KCNJ8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNJ8 Gene

ENSEMBL:
Gene Tree for KCNJ8 (if available)
TreeFam:
Gene Tree for KCNJ8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNJ8: view image

Paralogs for KCNJ8 Gene

Paralogs for KCNJ8 Gene

(16) SIMAP similar genes for KCNJ8 Gene using alignment to 2 proteins:

  • IRK8_HUMAN
  • F5GY12_HUMAN
genes like me logo Genes that share paralogs with KCNJ8: view

Variants for KCNJ8 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for KCNJ8 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs117808169 uncertain-significance, not specified, Brugada syndrome 21,773,354(-) G/C coding_sequence_variant, missense_variant
rs143319002 likely-benign, conflicting-interpretations-of-pathogenicity, Cardiovascular phenotype, not specified 21,766,527(-) C/A/G/T coding_sequence_variant, synonymous_variant
rs147316959 uncertain-significance, not specified, Sudden infant death syndrome (SIDS) [MIM:272120] 21,765,962(-) C/T coding_sequence_variant, missense_variant
rs149127157 uncertain-significance, Brugada syndrome 21,766,177(-) C/T coding_sequence_variant, missense_variant
rs16924297 benign, Brugada syndrome 21,766,205(-) A/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNJ8 Gene

Variant ID Type Subtype PubMed ID
nsv557741 CNV gain 21841781
nsv557744 CNV loss 21841781
nsv832349 CNV gain 17160897

Variation tolerance for KCNJ8 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNJ8 Gene

Human Gene Mutation Database (HGMD)
KCNJ8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ8 Gene

Disorders for KCNJ8 Gene

MalaCards: The human disease database

(8) MalaCards diseases for KCNJ8 Gene - From: HGMD, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cantu syndrome
  • hypertrichotic osteochondrodysplasia
sudden infant death syndrome
  • sids
brugada syndrome
  • right bundle branch block, st segment elevation, and sudden death syndrome
osteochondrodysplasia
  • mucopolysaccharidosis iv
cardiomyopathy, dilated, 1o
  • cmd1o
- elite association - COSMIC cancer census association via MalaCards
Search KCNJ8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNJ8_HUMAN
  • Note=Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG). The J point denotes the junction of the QRS complex and the ST segment on the ECG, marking the end of depolarization and the beginning of repolarization. An abnormal J wave is a deflection with a dome or hump morphology immediately following the QRS complex of the surface ECG. Examples of J-wave disorders are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases of idiopathic ventricular fibrillation (VF) with an early repolarization pattern in the inferior, inferolateral or global leads, as well as arrhythmias associated with hypothermia.
  • Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. {ECO:0000269 PubMed:21836131}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]: A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability. {ECO:0000269 PubMed:24176758, ECO:0000269 PubMed:24700710, ECO:0000269 PubMed:28842488}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Additional Disease Information for KCNJ8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KCNJ8: view

No data available for Genatlas for KCNJ8 Gene

Publications for KCNJ8 Gene

  1. cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8). (PMID: 8595887) Inagaki N … Seino S (Genomics 1995) 2 3 4 22 58
  2. Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KCNJ8 and ABCC9. (PMID: 19952277) Ellis JA … Harrap SB (Physiological genomics 2010) 3 22 44 58
  3. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. (PMID: 20558321) Medeiros-Domingo A … Ackerman MJ (Heart rhythm 2010) 3 4 44 58
  4. Cantú syndrome resulting from activating mutation in the KCNJ8 gene. (PMID: 24700710) Cooper PE … Nichols CG (Human mutation 2014) 3 4 58
  5. Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome. (PMID: 21836131) Tester DJ … Ackerman MJ (Circulation. Cardiovascular genetics 2011) 3 4 58

Products for KCNJ8 Gene

Sources for KCNJ8 Gene

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