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KCNJ1 Gene(Protein Coding)

Potassium Voltage-Gated Channel Subfamily J Member 1

GCID:
GC11M128741
GIFtS:
66
Genes Participants
UDN Logo

Aliases for KCNJ1 Gene

Aliases for KCNJ1 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 1 2 3 5
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 1 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 1 3 4
  • ATP-Regulated Potassium Channel ROM-K 3 4
  • Inward Rectifier K(+) Channel Kir1.1 3 4
  • ROMK1 3 4
  • ATP-Sensitive Inward Rectifier Potassium Channel 1 3
  • Inwardly Rectifying K+ Channel 3
  • KIR1.1 3
  • ROMK 3

External Ids for KCNJ1 Gene

Previous GeneCards Identifiers for KCNJ1 Gene

  • GC11M130709
  • GC11M130220
  • GC11M128245
  • GC11M128213
  • GC11M124655
  • GC11M128706

Summaries for KCNJ1 Gene

Entrez Gene Summary for KCNJ1 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. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNJ1 Gene

KCNJ1 (Potassium Voltage-Gated Channel Subfamily J Member 1) is a Protein Coding gene. Diseases associated with KCNJ1 include Bartter Syndrome, Type 2 and Antenatal Bartter Syndrome. Among its related pathways are Inwardly rectifying K+ channels and Diuretics Pathway, Pharmacodynamics. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and ATP-activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ10.

UniProtKB/Swiss-Prot for KCNJ1 Gene

  • In the kidney, probably plays a major role in potassium homeostasis. 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. This channel is activated by internal ATP and can be blocked by external barium.

Tocris Summary for KCNJ1 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 KCNJ1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ1 Gene

Genomics for KCNJ1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for KCNJ1 Gene

Enhancers for KCNJ1 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
GH11G128723 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.8 +135.3 135307 17.7 HDGF PKNOX1 WRNIP1 FEZF1 GATA2 FOS ZNF263 JUNB REST TSHZ1 FLI1 SENCR LOC101929538 KCNJ1 ETS1 GC11P128789
GH11G128707 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.5 +152.6 152581 15.1 HDGF PKNOX1 WRNIP1 SIN3A INSM2 ZBTB40 GATA2 SCRT2 ZSCAN5C ZNF143 FLI1 LOC101929538 KCNJ1 ETS1 KCNJ5 SENCR GC11P128789
GH11G128802 0.8 Ensembl dbSUPER 7.4 +64.7 64673 0.2 CTCF ZNF239 KDM1A RAD21 SPI1 KCNJ1 GC11P128789 GC11P128821
GH11G128792 0.6 dbSUPER 7 +71.9 71923 5.1 JUND ARID3A JUNB FOS FEZF1 ZBTB40 KCNJ1 GC11P128789 GC11P128821
GH11G128840 0.7 ENCODE 5.2 +25.6 25562 2.0 MTA2 NR2F1 DPF2 TBX21 EP300 JUND ARID3A IKZF1 NBN MLLT1 C11orf45 KCNJ1 GC11P128821
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNJ1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the KCNJ1 gene promoter:

Genomic Location for KCNJ1 Gene

Chromosome:
11
Start:
128,836,315 bp from pter
End:
128,867,373 bp from pter
Size:
31,059 bases
Orientation:
Minus strand

Genomic View for KCNJ1 Gene

Genes around KCNJ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KCNJ1 Gene

Proteins for KCNJ1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KCNJ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48048-KCNJ1_HUMAN
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 1
    Protein Accession:
    P48048
    Secondary Accessions:
    • B2RMR4
    • Q6LD67

    Protein attributes for KCNJ1 Gene

    Size:
    391 amino acids
    Molecular mass:
    44795 Da
    Quaternary structure:
    • Interacts with SGK1 and SLC9A3R2/NHERF2.

    Alternative splice isoforms for KCNJ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNJ1 Gene

Protein Expression for KCNJ1 Gene

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

Post-translational modifications for KCNJ1 Gene

  • Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.
  • Glycosylation at isoforms=2, 3117
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNJ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for KCNJ1
  • Santa Cruz Biotechnology (SCBT) Antibodies for KCNJ1

No data available for DME Specific Peptides for KCNJ1 Gene

Domains & Families for KCNJ1 Gene

Gene Families for KCNJ1 Gene

HGNC:
IUPHAR :

Protein Domains for KCNJ1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48048

UniProtKB/Swiss-Prot:

KCNJ1_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily.
genes like me logo Genes that share domains with KCNJ1: view

Function for KCNJ1 Gene

Products:

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

Molecular function for KCNJ1 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 1,ATP-regulated,expressed in the kidney in the apical membrane thick ascending limb of the loop of Henle regulating SLC12A1 functioning
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by WNK3.
UniProtKB/Swiss-Prot Function:
In the kidney, probably plays a major role in potassium homeostasis. 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. This channel is activated by internal ATP and can be blocked by external barium.

Gene Ontology (GO) - Molecular Function for KCNJ1 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:0005524 ATP binding IEA --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 12086641
GO:0015272 ATP-activated inward rectifier potassium channel activity IBA --
genes like me logo Genes that share ontologies with KCNJ1: view
genes like me logo Genes that share phenotypes with KCNJ1: view

Human Phenotype Ontology for KCNJ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNJ1 Gene

MGI Knock Outs for KCNJ1:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNJ1

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNJ1 Gene

Localization for KCNJ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ1 Gene

Cell membrane; Multi-pass membrane protein. Note=Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.

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 KCNJ1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS 9015377
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNJ1: view

Pathways & Interactions for KCNJ1 Gene

genes like me logo Genes that share pathways with KCNJ1: view

Pathways by source for KCNJ1 Gene

1 PharmGKB pathway for KCNJ1 Gene
1 Qiagen pathway for KCNJ1 Gene

SIGNOR curated interactions for KCNJ1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for KCNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 9015377
GO:0007588 excretion TAS 9015377
GO:0010107 potassium ion import IBA --
genes like me logo Genes that share ontologies with KCNJ1: view

Drugs & Compounds for KCNJ1 Gene

Products:

  1. Drug

(30) Drugs for KCNJ1 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glimepiride Approved Pharma blocker, Target, inhibitor Sulfonylurea compound 234
Glycodiazine Approved Pharma binder, Target, other/unknown 0
Minoxidil Approved Pharma Activator, Target, inducer 34
Tolbutamide Approved Pharma Inhibitor, blocker, Target, inhibitor CAMP inhibitor 22
Glyburide Approved Pharma Channel blocker, blocker Kir6 (KATP) channel blocker 114

(5) Additional Compounds for KCNJ1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for KCNJ1 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 KCNJ1: view

Transcripts for KCNJ1 Gene

Products:

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

mRNA/cDNA for KCNJ1 Gene

(5) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(45) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNJ1 Gene

Potassium inwardly-rectifying channel, subfamily J, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f
SP1: - -
SP2: - - -
SP3: - - -
SP4: - -
SP5:
SP6: - - - -

Relevant External Links for KCNJ1 Gene

GeneLoc Exon Structure for
KCNJ1
ECgene alternative splicing isoforms for
KCNJ1

Expression for KCNJ1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNJ1 Gene

mRNA expression in normal human tissues for KCNJ1 Gene
mRNA expression by BioGPS for KCNJ1 GenemRNA expression by GTEx for KCNJ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ1 Gene

This gene is overexpressed in Kidney - Cortex (x39.8).

Protein differential expression in normal tissues from HIPED for KCNJ1 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNJ1 Gene



Protein tissue co-expression partners for KCNJ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNJ1 Gene:

KCNJ1

SOURCE GeneReport for Unigene cluster for KCNJ1 Gene:

Hs.527830

mRNA Expression by UniProt/SwissProt for KCNJ1 Gene:

P48048-KCNJ1_HUMAN
Tissue specificity: In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver.

Evidence on tissue expression from TISSUES for KCNJ1 Gene

  • Kidney(4.9)
  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • prostate
  • rectum
  • ureter
  • uterus
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
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with KCNJ1: view

Primer Products

Orthologs for KCNJ1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KCNJ1 34 35
  • 99.4 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNJ1 35
  • 93 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia KCNJ1 35
  • 92 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia KCNJ1 34 35
  • 91.67 (n)
cow
(Bos Taurus)
 Mammalia KCNJ1 34 35
  • 90.05 (n)
mouse
(Mus musculus)
 Mammalia Kcnj1 34 16 35
  • 86.79 (n)
rat
(Rattus norvegicus)
 Mammalia Kcnj1 34
  • 86.02 (n)
chicken
(Gallus gallus)
 Aves KCNJ1 34 35
  • 79.69 (n)
lizard
(Anolis carolinensis)
 Reptilia KCNJ1 35
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kcnj1 34
  • 72.76 (n)
zebrafish
(Danio rerio)
 Actinopterygii kcnj1b 34 35
  • 60.64 (n)
kcnj1a.1 35
  • 55 (a)
 OneToMany
kcnj1a.6 35
  • 55 (a)
 OneToMany
kcnj1a.2 35
  • 54 (a)
 OneToMany
kcnj1a.4 35
  • 54 (a)
 OneToMany
kcnj1a.3 35
  • 53 (a)
 OneToMany
kcnj1a.5 35
  • 52 (a)
 OneToMany
zgc63534 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.675 34
fruit fly
(Drosophila melanogaster)
 Insecta Irk3 36
  • 33 (a)
Irk2 35
  • 32 (a)
 ManyToMany
Ir 35
  • 28 (a)
 ManyToMany
Species where no ortholog for KCNJ1 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)
  • 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 KCNJ1 Gene

ENSEMBL:
Gene Tree for KCNJ1 (if available)
TreeFam:
Gene Tree for KCNJ1 (if available)

Paralogs for KCNJ1 Gene

Paralogs for KCNJ1 Gene

(16) SIMAP similar genes for KCNJ1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNJ1: view

Variants for KCNJ1 Gene

Sequence variations from dbSNP and Humsavar for KCNJ1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs104894245 Pathogenic, Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] 128,839,644(-) AAGAG(C/G)CTTCT reference, missense
rs104894246 Pathogenic, Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] 128,839,660(-) AGTGG(C/G/T)TAATC reference, missense
rs104894250 Pathogenic, Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] 128,839,979(-) ACAAA(C/G)ACCTC reference, missense
rs104894251 Pathogenic, Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] 128,839,929(-) GAGAA(A/C/T)ATTAA reference, synonymous-codon, missense
rs104894253 Pathogenic, Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] 128,839,709(-) AGAAC(A/G/T)CAGTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KCNJ1 Gene

Variant ID Type Subtype PubMed ID
esv3628050 CNV loss 21293372

Variation tolerance for KCNJ1 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNJ1 Gene

Human Gene Mutation Database (HGMD)
KCNJ1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ1 Gene

Disorders for KCNJ1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for KCNJ1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bartter syndrome, type 2
  • bartter disease type 2
antenatal bartter syndrome
  • hyperprostaglandin e syndrome
bartter disease
  • aldosteronism with hyperplasia of the adrenal cortex
gitelman syndrome
  • hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
hypokalemia
  • hypopotassemia
- elite association - COSMIC cancer census association via MalaCards
Search KCNJ1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNJ1_HUMAN
  • Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. {ECO:0000269 PubMed:8841184, ECO:0000269 PubMed:9002665, ECO:0000269 PubMed:9727001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for KCNJ1 Gene

Bartter syndrome characterized by an hypokalemic,hypochloremic metabolic alkalosis with hyperkaliury,hyperexcretion of prostaglandin E,hyperreninemia hyperaldosteronism with normal blood pressure,insensitivity to AGT2,and hyperplasia of juxtaglomerular apparatus,autosomal recessive. Presenting as an antenatal form with hydramnios prematurity and dehydration at birth and a classic form with failure to thrive

Relevant External Links for KCNJ1

Genetic Association Database (GAD)
KCNJ1
Human Genome Epidemiology (HuGE) Navigator
KCNJ1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ1
genes like me logo Genes that share disorders with KCNJ1: view

Publications for KCNJ1 Gene

  1. Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA. (PMID: 8190102) Yano H. … Takeda J. (Mol. Pharmacol. 1994) 2 3 4 22 64
  2. Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. (PMID: 18443236) Tobin M.D. … Samani N.J. (Hypertension 2008) 3 22 46 64
  3. Cell surface expression of the ROMK (Kir 1.1) channel is regulated by the aldosterone-induced kinase, SGK-1, and protein kinase A. (PMID: 12684516) Yoo D. … Welling P.A. (J. Biol. Chem. 2003) 3 4 22 64
  4. A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. (PMID: 9727001) Derst C. … Karschin A. (J. Biol. Chem. 1998) 3 4 22 64
  5. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. (PMID: 9002665) Karolyi L. … Hebert S.C. (Hum. Mol. Genet. 1997) 3 4 22 64

Products for KCNJ1 Gene

Sources for KCNJ1 Gene

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