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Aliases for KCNJ13 Gene

Aliases for KCNJ13 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 13 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 13 2 3
  • Inward Rectifier K(+) Channel Kir7.1 3 4
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 13 4
  • KIR1.4 3
  • KIR7.1 3
  • LCA16 3
  • SVD 3

External Ids for KCNJ13 Gene

Previous GeneCards Identifiers for KCNJ13 Gene

  • GC02M231687
  • GC02M232360
  • GC02M233595
  • GC02M233833
  • GC02M233829
  • GC02M233458
  • GC02M233339
  • GC02M233630
  • GC02M225479

Summaries for KCNJ13 Gene

Entrez Gene Summary for KCNJ13 Gene

  • This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

GeneCards Summary for KCNJ13 Gene

KCNJ13 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 13) is a Protein Coding gene. Diseases associated with KCNJ13 include snowflake vitreoretinal degeneration and leber congenital amaurosis 16. Among its related pathways are Protein digestion and absorption and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include inward rectifier potassium channel activity.

UniProtKB/Swiss-Prot for KCNJ13 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. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium

Tocris Summary for KCNJ13 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 KCNJ13 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ13 Gene

Genomics for KCNJ13 Gene

Regulatory Elements for KCNJ13 Gene

Genomic Location for KCNJ13 Gene

Chromosome:
2
Start:
232,765,802 bp from pter
End:
232,776,568 bp from pter
Size:
10,767 bases
Orientation:
Minus strand

Genomic View for KCNJ13 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNJ13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ13 Gene

Proteins for KCNJ13 Gene

  • Protein details for KCNJ13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60928-KCJ13_HUMAN
    Recommended name:
    Inward rectifier potassium channel 13
    Protein Accession:
    O60928
    Secondary Accessions:
    • A0PGH1
    • O76023
    • Q53SA1
    • Q8N3Y4

    Protein attributes for KCNJ13 Gene

    Size:
    360 amino acids
    Molecular mass:
    40530 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KCNJ13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNJ13 Gene

Proteomics data for KCNJ13 Gene at MOPED

Post-translational modifications for KCNJ13 Gene

  • Phosphorylation at Ser-201 by PKC strongly inhibits ionic currents, while phosphorylation at Ser-287 by PKA increases them.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ13 Gene

Antibody Products

No data available for DME Specific Peptides for KCNJ13 Gene

Domains & Families for KCNJ13 Gene

Graphical View of Domain Structure for InterPro Entry

O60928

UniProtKB/Swiss-Prot:

KCJ13_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ13 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ13 subfamily.
genes like me logo Genes that share domains with KCNJ13: view

Function for KCNJ13 Gene

Molecular function for KCNJ13 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel,wealkly inwardly rectifying,subfamily J,member 13,novel subunit KIR7.1,predominantly expressed in thyroid follicular cells,choroid plexus,small intestine and moderately in the kidney,stomach,spinal cord and brain,located in the basolateral membrane of follicular cells,in the apical membrane of epithelia,putatively involved in the functional coupling between the channel and Na+K+ ATPase
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. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium

Gene Ontology (GO) - Molecular Function for KCNJ13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity NAS 9738472
genes like me logo Genes that share ontologies with KCNJ13: view
genes like me logo Genes that share phenotypes with KCNJ13: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNJ13

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNJ13 Gene

Localization for KCNJ13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ13 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNJ13 Gene COMPARTMENTS Subcellular localization image for KCNJ13 gene
Compartment Confidence
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for KCNJ13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with KCNJ13: view

Pathways & Interactions for KCNJ13 Gene

genes like me logo Genes that share pathways with KCNJ13: view

Pathways by source for KCNJ13 Gene

1 Qiagen pathway for KCNJ13 Gene
1 KEGG pathway for KCNJ13 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for KCNJ13 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000233826%0d%0a9606.ENSP00000225698%0d%0a9606.ENSP00000360200%0d%0a9606.ENSP00000293813%0d%0a9606.ENSP00000365272%0d%0a
Selected Interacting proteins: ENSP00000233826 for KCNJ13 Gene via STRING

SIGNOR curated interactions for KCNJ13 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KCNJ13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport NAS 9738472
GO:0010107 potassium ion import IBA --
GO:0034765 regulation of ion transmembrane transport IBA --
genes like me logo Genes that share ontologies with KCNJ13: view

Drugs & Compounds for KCNJ13 Gene

(9) Drugs for KCNJ13 Gene - From: IUPHAR, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dalfampridine Approved Pharma Inhibitor 47
Diazoxide Approved Pharma Activator Blocks desensitization of AMPA receptors 20
Glyburide Approved Pharma Inhibition, Inhibitor Kir6 (KATP) channel blocker 100
Minoxidil Approved Pharma Activator Kir6 channel (KATP) opener 33
Terfenadine Withdrawn Pharma Pore Blocker Histamine H1-receptor antagonist, H1 antagonist. Also KV11.1 (hERG) and Kir6 (KATP) channel blocker 28

(1) Additional Compounds for KCNJ13 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ZM 226600
147695-92-9
genes like me logo Genes that share compounds with KCNJ13: view

Transcripts for KCNJ13 Gene

Unigene Clusters for KCNJ13 Gene

Potassium inwardly-rectifying channel, subfamily J, member 13:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNJ13

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ13 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d
SP1: - -
SP2: -
SP3: - -
SP4:

Relevant External Links for KCNJ13 Gene

GeneLoc Exon Structure for
KCNJ13
ECgene alternative splicing isoforms for
KCNJ13

Expression for KCNJ13 Gene

mRNA expression in normal human tissues for KCNJ13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KCNJ13 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNJ13 Gene



SOURCE GeneReport for Unigene cluster for KCNJ13 Gene Hs.467338

mRNA Expression by UniProt/SwissProt for KCNJ13 Gene

O60928-KCJ13_HUMAN
Tissue specificity: Predominantly expressed in small intestine. Expression is also detected in stomach, kidney, and all central nervous system regions tested with the exception of spinal cord
genes like me logo Genes that share expression patterns with KCNJ13: view

Protein tissue co-expression partners for KCNJ13 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for KCNJ13 Gene

Orthologs for KCNJ13 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ13 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNJ13 35
  • 92.04 (n)
  • 94.44 (a)
KCNJ13 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ13 35
  • 94.63 (n)
  • 96.67 (a)
KCNJ13 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj13 35
  • 90 (n)
  • 93.06 (a)
Kcnj13 16
Kcnj13 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNJ13 35
  • 99.81 (n)
  • 99.72 (a)
KCNJ13 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj13 35
  • 90.56 (n)
  • 93.89 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNJ13 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ13 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNJ13 35
  • 77.25 (n)
  • 81.89 (a)
KCNJ13 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ13 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj13 35
  • 64.87 (n)
  • 67.99 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnj13 35
  • 56.87 (n)
  • 52.52 (a)
kcnj13 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Irk3 36
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea irk-3 36
  • 24 (a)
OneToOne
Species with no ortholog for KCNJ13:
  • 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)

Evolution for KCNJ13 Gene

ENSEMBL:
Gene Tree for KCNJ13 (if available)
TreeFam:
Gene Tree for KCNJ13 (if available)

Paralogs for KCNJ13 Gene

(16) SIMAP similar genes for KCNJ13 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KCNJ13: view

No data available for Paralogs for KCNJ13 Gene

Variants for KCNJ13 Gene

Sequence variations from dbSNP and Humsavar for KCNJ13 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
VAR_016193 -
VAR_043509 Snowflake vitreoretinal degeneration (SVD)
VAR_043510 -
VAR_043511 -
VAR_066488 Leber congenital amaurosis 16 (LCA16)

Structural Variations from Database of Genomic Variants (DGV) for KCNJ13 Gene

Variant ID Type Subtype PubMed ID
nsv834570 CNV Gain 17160897
nsv460134 CNV Loss 19166990

Variation tolerance for KCNJ13 Gene

Residual Variation Intolerance Score: 34.15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.83; 79.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNJ13 Gene

HapMap Linkage Disequilibrium report
KCNJ13
Human Gene Mutation Database (HGMD)
KCNJ13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ13 Gene

Disorders for KCNJ13 Gene

MalaCards: The human disease database

(15) MalaCards diseases for KCNJ13 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
snowflake vitreoretinal degeneration
  • snowflake degeneration in hereditary vitreoretinal degeneration
leber congenital amaurosis 16
  • lca16
kcnj13-related leber congenital amaurosis
  • leber's amaurosis
vitreoretinal degeneration
vitreous syneresis
  • vitreous degeneration
- elite association

UniProtKB/Swiss-Prot

KCJ13_HUMAN
  • Leber congenital amaurosis 16 (LCA16) [MIM:614186]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:21763485}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Snowflake vitreoretinal degeneration (SVD) [MIM:193230]: Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment. {ECO:0000269 PubMed:18179896}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNJ13

Genetic Association Database (GAD)
KCNJ13
Human Genome Epidemiology (HuGE) Navigator
KCNJ13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ13
genes like me logo Genes that share disorders with KCNJ13: view

No data available for Genatlas for KCNJ13 Gene

Publications for KCNJ13 Gene

  1. Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13). (PMID: 9878260) Derst C. … Grzeschik K.-H. (Genomics 1998) 2 23 67
  2. Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium. (PMID: 18035352) Yang D. … Hughes B.A. (Exp. Eye Res. 2008) 23 67
  3. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. (PMID: 18179896) Hejtmancik J.F. … Edwards A.O. (Am. J. Hum. Genet. 2008) 23 67
  4. 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 67
  5. A novel inward rectifier K+ channel with unique pore properties. (PMID: 9620703) Krapivinsky G. … Clapham D.E. (Neuron 1998) 2 67

Products for KCNJ13 Gene

Sources for KCNJ13 Gene

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