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Aliases for KCNJ16 Gene

Aliases for KCNJ16 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 16 2 3 5
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 16 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 16 3 4
  • Inward Rectifier K(+) Channel Kir5.1 3 4
  • Inward Rectifier Potassium Channel 16 3
  • Inward Rectifier K+ Channel KIR5.1 3
  • KIR5.1 3
  • BIR9 3

External Ids for KCNJ16 Gene

Previous GeneCards Identifiers for KCNJ16 Gene

  • GC17P067826
  • GC17P071031
  • GC17P068535
  • GC17P068668
  • GC17P065583
  • GC17P068071
  • GC17P063457

Summaries for KCNJ16 Gene

Entrez Gene Summary for KCNJ16 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 tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

GeneCards Summary for KCNJ16 Gene

KCNJ16 (Potassium Voltage-Gated Channel Subfamily J Member 16) is a Protein Coding gene. Diseases associated with KCNJ16 include Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance and Campomelic Dysplasia. Among its related pathways are GABA receptor activation and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ13.

UniProtKB/Swiss-Prot for KCNJ16 Gene

  • 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. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201).

Tocris Summary for KCNJ16 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 KCNJ16 Gene

Additional gene information for KCNJ16 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ16 Gene

Genomics for KCNJ16 Gene

GeneHancer (GH) Regulatory Elements for KCNJ16 Gene

Promoters and enhancers for KCNJ16 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
GH17J070074 Promoter/Enhancer 1.1 EPDnew ENCODE 666.9 +21.5 21487 1.8 SP1 POLR2A HLF CREB1 CEBPB ATF7 EP300 ATF2 KCNJ16 LOC105371881 GC17P070078
GH17J070053 Enhancer 0.6 Ensembl ENCODE 655.5 +0.2 246 1.2 CREB1 ATF2 ZBTB20 KCNJ16 LOC105371881 LINC01028 GC17P070078
GH17J070109 Enhancer 0.9 Ensembl ENCODE 11.8 +57.0 56951 2.1 ZBTB21 JUN ZSCAN4 INSM2 ZNF398 ZIC2 ZNF843 ATF2 OSR2 ZFHX2 KCNJ16 GC17P070128 LOC105371881 GC17P070078
GH17J069856 Enhancer 0.9 ENCODE 11.1 -196.2 -196235 1.6 PKNOX1 ATF1 FEZF1 TCF12 FOS ATF7 YY2 NCOA1 MBD2 MEF2D KCNJ16 LINC01497 GC17P069832 GC17M069883 LINC01483
GH17J069059 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 6.1 -992.1 -992091 4.4 BCOR USF1 HLF CREB1 ZMYM3 HNF4A KDM1A ABCA9 KCNJ16 ABCA6 ABCA10 GC17P069034
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNJ16 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNJ16 gene promoter:
  • Pax-4a
  • SRY
  • C/EBPalpha
  • ARP-1
  • POU2F1
  • POU2F1a
  • AP-1
  • STAT3
  • FOXO3
  • FOXO3a

Genomic Locations for KCNJ16 Gene

Genomic Locations for KCNJ16 Gene
chr17:70,053,429-70,135,608
(GRCh38/hg38)
Size:
82,180 bases
Orientation:
Plus strand
chr17:68,049,570-68,131,749
(GRCh37/hg19)
Size:
82,180 bases
Orientation:
Plus strand

Genomic View for KCNJ16 Gene

Genes around KCNJ16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ16 Gene

Proteins for KCNJ16 Gene

  • Protein details for KCNJ16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPI9-KCJ16_HUMAN
    Recommended name:
    Inward rectifier potassium channel 16
    Protein Accession:
    Q9NPI9

    Protein attributes for KCNJ16 Gene

    Size:
    418 amino acids
    Molecular mass:
    47949 Da
    Quaternary structure:
    • Heterodimer with Kir4.1/KCNJ10; this interaction is required for KCNJ16 localization to the basolateral membrane in kidney cells. As a heterodimer with KCNJ10, may interact with MAGI1; this interaction may facilitate KCNJ10/KCNJ16 potassium channel expression at the basolateral membrane in kidney cells (PubMed:24561201). May form heterodimers with Kir2.1/KCNJ2 (Probable).

neXtProt entry for KCNJ16 Gene

Post-translational modifications for KCNJ16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCNJ16 Gene

Domains & Families for KCNJ16 Gene

Gene Families for KCNJ16 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Graphical View of Domain Structure for InterPro Entry

Q9NPI9

UniProtKB/Swiss-Prot:

KCJ16_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ16 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ16 subfamily.
genes like me logo Genes that share domains with KCNJ16: view

Function for KCNJ16 Gene

Molecular function for KCNJ16 Gene

UniProtKB/Swiss-Prot Function:
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. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201).

Phenotypes From GWAS Catalog for KCNJ16 Gene

Gene Ontology (GO) - Molecular Function for KCNJ16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity TAS --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0015467 G-protein activated inward rectifier potassium channel activity TAS --
genes like me logo Genes that share ontologies with KCNJ16: view
genes like me logo Genes that share phenotypes with KCNJ16: view

Animal Models for KCNJ16 Gene

MGI Knock Outs for KCNJ16:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNJ16

CRISPR Products

miRNA for KCNJ16 Gene

miRTarBase miRNAs that target KCNJ16

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ16

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNJ16 Gene

Localization for KCNJ16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ16 Gene

Membrane; Multi-pass membrane protein. Basolateral cell membrane. Note=In kidney distal convoluted tubules, located in the basolateral membrane in the presence of KCNJ10. {ECO:0000269 PubMed:24561201}.

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 KCNJ16 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KCNJ16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0008076 voltage-gated potassium channel complex NAS 11060447
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNJ16: view

Pathways & Interactions for KCNJ16 Gene

genes like me logo Genes that share pathways with KCNJ16: view

Gene Ontology (GO) - Biological Process for KCNJ16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport NAS 11060447
GO:0010107 potassium ion import IBA --
GO:0034220 ion transmembrane transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNJ16: view

No data available for SIGNOR curated interactions for KCNJ16 Gene

Drugs & Compounds for KCNJ16 Gene

(6) Drugs for KCNJ16 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
Glyburide Approved Pharma Channel blocker, Inhibitor, Inhibition Kir6 (KATP) channel blocker 116
Minoxidil Approved, Investigational Pharma Activator Kir6 channel (KATP) opener 35
Nicorandil Approved, Investigational Pharma Activator Potassium channel activator, Kir6 (KATP) channel opener and NO donor 19
P1075 Pharma Potent Kir6 (KATP) channel opener 0

(5) Tocris Compounds for KCNJ16 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 KCNJ16: view

Transcripts for KCNJ16 Gene

Unigene Clusters for KCNJ16 Gene

Potassium inwardly-rectifying channel, subfamily J, member 16:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ16

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ16 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f
SP1: - -
SP2: - - - - -
SP3: - - - - - - -
SP4:
SP5: - - -
SP6: - - -
SP7: - - - - - - - -
SP8: - - - -

Relevant External Links for KCNJ16 Gene

GeneLoc Exon Structure for
KCNJ16
ECgene alternative splicing isoforms for
KCNJ16

Expression for KCNJ16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNJ16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ16 Gene

This gene is overexpressed in Thyroid (x14.4), Kidney - Cortex (x13.0), and Pancreas (x5.7).

NURSA nuclear receptor signaling pathways regulating expression of KCNJ16 Gene:

KCNJ16

SOURCE GeneReport for Unigene cluster for KCNJ16 Gene:

Hs.463985

mRNA Expression by UniProt/SwissProt for KCNJ16 Gene:

Q9NPI9-KCJ16_HUMAN
Tissue specificity: Widely expressed, with highest levels in adult and fetal kidney (at protein level). In the kidney, expressed in the proximal and distal convoluted tubules, but not in glomeruli nor collecting ducts.

Evidence on tissue expression from TISSUES for KCNJ16 Gene

  • Kidney(4.7)
  • Thyroid gland(4.5)
  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with KCNJ16: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ16 Gene

Orthologs for KCNJ16 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNJ16 34 33
  • 99.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ16 34 33
  • 89 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNJ16 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj16 16 34 33
  • 84.45 (n)
rat
(Rattus norvegicus)
Mammalia Kcnj16 33
  • 83.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ16 34
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNJ16 34 33
  • 77.11 (n)
OneToOne
chicken
(Gallus gallus)
Aves KCNJ16 34 33
  • 71.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ16 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj16 33
  • 65.54 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100001432 33
  • 57.42 (n)
KCNJ16 34
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Irk2 34
  • 32 (a)
ManyToMany
Ir 34
  • 27 (a)
ManyToMany
Species where no ortholog for KCNJ16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNJ16 Gene

ENSEMBL:
Gene Tree for KCNJ16 (if available)
TreeFam:
Gene Tree for KCNJ16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNJ16: view image

Paralogs for KCNJ16 Gene

Paralogs for KCNJ16 Gene

(16) SIMAP similar genes for KCNJ16 Gene using alignment to 6 proteins:

  • IRK16_HUMAN
  • K7EJR9_HUMAN
  • K7EKJ4_HUMAN
  • K7ELL5_HUMAN
  • K7EPW9_HUMAN
  • Q8N538_HUMAN
genes like me logo Genes that share paralogs with KCNJ16: view

Variants for KCNJ16 Gene

Sequence variations from dbSNP and Humsavar for KCNJ16 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000053494 -- 70,093,716(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000091102 -- 70,099,772(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000216574 -- 70,106,080(+) A/T intron_variant
rs1000249230 -- 70,105,872(+) T/A intron_variant
rs1000296966 -- 70,075,640(+) G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNJ16 Gene

Variant ID Type Subtype PubMed ID
dgv563e199 CNV deletion 23128226
esv2666209 CNV deletion 23128226
esv3582894 CNV loss 25503493
esv3641142 CNV loss 21293372
esv3641143 CNV loss 21293372
esv3641144 CNV loss 21293372
nsv1109102 CNV deletion 24896259
nsv2131 CNV deletion 18451855
nsv483015 CNV loss 15286789
nsv498875 CNV loss 21111241
nsv520048 CNV loss 19592680
nsv526271 CNV loss 19592680
nsv828096 CNV loss 20364138
nsv833528 CNV loss 17160897

Variation tolerance for KCNJ16 Gene

Residual Variation Intolerance Score: 83.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNJ16 Gene

Human Gene Mutation Database (HGMD)
KCNJ16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ16 Gene

Disorders for KCNJ16 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KCNJ16 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
  • sesames
campomelic dysplasia
  • cmpd
body dysmorphic disorder
  • body dysmorphia
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
brugada syndrome
  • right bundle branch block, st segment elevation, and sudden death syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KCNJ16

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 KCNJ16: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNJ16 Gene

Publications for KCNJ16 Gene

  1. Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. (PMID: 11240146) Derst C … Karschin A (FEBS letters 2001) 2 3 4 22 58
  2. The human inward rectifier K(+) channel subunit kir5.1 (KCNJ16) maps to chromosome 17q25 and is expressed in kidney and pancreas. (PMID: 11060447) Liu Y … Swanson R (Cytogenetics and cell genetics 2000) 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
  5. International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PMID: 16382105) Kubo Y … Vandenberg CA (Pharmacological reviews 2005) 2 3 58

Products for KCNJ16 Gene

Sources for KCNJ16 Gene

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