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KCNJ16 Gene(Protein Coding)

Potassium Voltage-Gated Channel Subfamily J Member 16

GCID:
GC17P070053
GIFtS:
58
Genes Participants
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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 Sesame Syndrome and Campomelic Dysplasia. Among its related pathways are Inwardly rectifying K+ channels and GABA receptor activation. GO annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ2.

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

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

Genomics for KCNJ16 Gene

Products:

  1. Regulatory Element

Regulatory Elements for KCNJ16 Gene

Enhancers for KCNJ16 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
GH17G070109 1 Ensembl ENCODE 11.8 +57.0 56951 2.1 PKNOX1 ZBTB21 JUN ZSCAN4 INSM2 ZIC2 ZNF664 ZFHX2 GATA2 POLR2A KCNJ16 GC17P070128 GC17P070078
GH17G069856 1 ENCODE 11.1 -196.2 -196235 1.6 PKNOX1 ATF1 FEZF1 TCF12 GATA2 FOS YY2 JUNB NCOA1 MEF2D KCNJ16 LINC01497 GC17P069832 GC17M069883
GH17G070089 0.8 ENCODE 12.9 +36.5 36538 0.5 CTCF INSM2 FEZF1 ZNF384 ZIC2 ZNF664 ZNF121 ZNF316 GATA3 PRDM10 KCNJ16 GC17P070078 GC17P070128
GH17G070074 0.6 ENCODE 16.9 +21.5 21487 1.8 JUND ATF3 HLF CREB1 CEBPB EP300 ATF2 KCNJ16 LOC105371881 GC17P070078
GH17G069997 0.9 ENCODE 11 -56.0 -55975 0.2 FUS SIN3A DMAP1 RARA ZNF766 ELK1 PRPF4 FOS BCLAF1 HCFC1 KCNJ16 SNRPGP4 ENSG00000199801 GC17M070016
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNJ16 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the KCNJ16 gene promoter:

Genomic Location for KCNJ16 Gene

Chromosome:
17
Start:
70,053,429 bp from pter
End:
70,135,608 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for KCNJ16 Gene

Proteins for KCNJ16 Gene

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  1. Antibody
  2. Protein
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  • 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

Other Protein References for KCNJ16 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ16 Gene

Domains & Families for KCNJ16 Gene

Gene Families for KCNJ16 Gene

HGNC:
IUPHAR :

Protein Domains for KCNJ16 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ16 Gene

GenScript: Design optimal peptide antigens:

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

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

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).

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

Cell Line Products

Flow Cytometry 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

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport NAS 11060447
GO:0010107 potassium ion import IBA --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glyburide Approved Pharma Channel blocker Kir6 (KATP) channel blocker 114
Nicorandil Approved Pharma Activator Potassium channel activator, Kir6 (KATP) channel opener and NO donor 17
Magnesium Nutra 0
Levcromakalim Pharma Kir6 (KATP) channel opener; active enantiomer of cromakalim (Cat. No. 1377) 0
Tertiapin-Q Pharma Selective blocker of inward-rectifier K+ channels 0

(5) Tocris Compounds for KCNJ16 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
genes like me logo Genes that share compounds with KCNJ16: view

Transcripts for KCNJ16 Gene

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

mRNA/cDNA for KCNJ16 Gene

(18) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(107) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNJ16 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for KCNJ16 Gene
mRNA expression by BioGPS for KCNJ16 GenemRNA expression by GTEx 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

Primer Products

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 35
  • 99.12 (n)
dog
(Canis familiaris)
 Mammalia KCNJ16 34 35
  • 89 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNJ16 35
  • 87 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Kcnj16 34 16 35
  • 84.45 (n)
rat
(Rattus norvegicus)
 Mammalia Kcnj16 34
  • 83.41 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNJ16 35
  • 79 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia KCNJ16 34 35
  • 77.11 (n)
chicken
(Gallus gallus)
 Aves KCNJ16 34 35
  • 71.38 (n)
lizard
(Anolis carolinensis)
 Reptilia KCNJ16 35
  • 67 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kcnj16 34
  • 65.54 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC100001432 34
  • 57.42 (n)
KCNJ16 35
  • 47 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Irk2 35
  • 32 (a)
 ManyToMany
Ir 35
  • 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)

Paralogs for KCNJ16 Gene

Paralogs for KCNJ16 Gene

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

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 Sequence Context AA Info Type
rs1000053494 -- 70,093,716(+) TACTA(A/G)TAATT intron-variant
rs1000091102 -- 70,099,772(+) TCACA(C/T)AAAAA intron-variant
rs1000216574 -- 70,106,080(+) GAGCC(A/T)TATGC intron-variant
rs1000249230 -- 70,105,872(+) GACAG(A/T)ATAGA intron-variant
rs1000296966 -- 70,075,640(+) AGTCT(G/T)TTAAA intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

(7) MalaCards diseases for KCNJ16 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
sesame syndrome
  • seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
campomelic dysplasia
  • campomelic dysplasia with autosomal sex reversal
body dysmorphic disorder
  • body dysmorphia
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
corneal dystrophy, schnyder type
  • schnyder corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCNJ16

Genetic Association Database (GAD)
KCNJ16
Human Genome Epidemiology (HuGE) Navigator
KCNJ16
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ16
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 Lett. 2001) 2 3 4 22 64
  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. (Cytogenet. Cell Genet. 2000) 3 4 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  5. International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PMID: 16382105) Kubo Y. … Vandenberg C.A. (Pharmacol. Rev. 2005) 2 3 64

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