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 v... See more...

Aliases for KCNJ13 Gene

Aliases for KCNJ13 Gene

  • Potassium Inwardly Rectifying Channel Subfamily J Member 13 2 3
  • Potassium Voltage-Gated Channel Subfamily J Member 13 3 5
  • Inward Rectifier Potassium Channel 13 3 4
  • Inward Rectifier K(+) Channel Kir7.1 3 4
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 13 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 13 2
  • 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 Inwardly Rectifying Channel Subfamily J Member 13) is a Protein Coding gene. Diseases associated with KCNJ13 include Vitreoretinal Degeneration, Snowflake Type and Leber Congenital Amaurosis 16. Among its related pathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ10.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for KCNJ13 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNJ13 Gene

Genomics for KCNJ13 Gene

GeneHancer (GH) Regulatory Elements for KCNJ13 Gene

Promoters and enhancers for KCNJ13 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
GH02J232774 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.7 +0.2 214 5.1 CTBP1 CREB1 FOXA2 JUND BATF GATA3 JUNB ATF2 HDAC2 MAFK KCNJ13 SNORC NGEF ENSG00000241409 GIGYF2
GH02J232872 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10 -98.8 -98796 4.9 EP300 POLR2G CTCF ZBTB25 TGIF2 ZBTB7A HDAC2 POLR2A EZH2 PCBP1 SNORC lnc-SNORC-2 NGEF SCARNA6 DIS3L2 GIGYF2 KCNJ13 ENSG00000222001 ENSG00000271639 ATG16L1
GH02J232650 Enhancer 1 Ensembl ENCODE dbSUPER 10.5 +124.0 124003 3.5 ZNF217 ZSCAN5C ZIC2 RFX1 GATAD2B CTBP1 OSR2 ESRRA ZBTB17 TCF7L2 ENSG00000237126 GIGYF2 KCNJ13 ECEL1 SAG EFHD1 RN7SL359P RF00017-3459 lnc-GIGYF2-3 RF01210-231
GH02J233266 Enhancer 1.1 Ensembl ENCODE dbSUPER 10 -492.8 -492830 6.1 ZBTB40 CLOCK FOXA2 CBFB POLR2A ESR1 JUND ZFHX2 USF1 GATA3 ATG16L1 SAG KCNJ13 GIGYF2 AY077737 SCARNA5
GH02J232661 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 9.9 +114.0 114026 1.3 FOXA1 DPF2 E2F1 TCF7L2 SMARCE1 FOS EFHD1 ENSG00000237126 GIGYF2 KCNJ13 ECEL1 RN7SL359P lnc-GIGYF2-3 RF00017-3459 RF01210-231
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNJ13 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNJ13

Top Transcription factor binding sites by QIAGEN in the KCNJ13 gene promoter:
  • CUTL1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • PPAR-gamma2

Genomic Locations for KCNJ13 Gene

Genomic Locations for KCNJ13 Gene
chr2:232,765,802-232,776,565
(GRCh38/hg38)
Size:
10,764 bases
Orientation:
Minus strand
chr2:233,630,512-233,641,278
(GRCh37/hg19)
Size:
10,767 bases
Orientation:
Minus strand

Genomic View for KCNJ13 Gene

Genes around KCNJ13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

No data available for DME Specific Peptides for KCNJ13 Gene

Domains & Families for KCNJ13 Gene

Gene Families for KCNJ13 Gene

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

Protein Domains for KCNJ13 Gene

Blocks:
  • Inward rectifier K+ channel superfamily signature
  • Kir7 inward rectifier K+ channel signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ13 Gene

GenScript: Design optimal peptide antigens:
  • Potassium channel, inwardly rectifying subfamily J member 13 (IRK13_HUMAN)
  • cDNA, FLJ94677, highly similar to Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), mRNA (Q53SA1_HUMAN)

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

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.
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

Phenotypes From GWAS Catalog for KCNJ13 Gene

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
GO:0005244 voltage-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with KCNJ13: view
genes like me logo Genes that share phenotypes with KCNJ13: view

Human Phenotype Ontology for KCNJ13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNJ13 Gene

MGI Knock Outs for KCNJ13:
  • Kcnj13 Kcnj13<tm1b(KOMP)Wtsi>
  • Kcnj13 Kcnj13<tm1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNJ13

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 KCNJ13 gene
Compartment Confidence
plasma membrane 3
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KCNJ13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNJ13: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNJ13 Gene

Pathways & Interactions for KCNJ13 Gene

PathCards logo

SuperPathways for KCNJ13 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
2 Dopamine-DARPP32 Feedback onto cAMP Pathway
-
genes like me logo Genes that share pathways with KCNJ13: view

Pathways by source for KCNJ13 Gene

1 KEGG pathway for KCNJ13 Gene
1 Qiagen pathway for KCNJ13 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

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:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA,NAS 9738472
GO:0034220 ion transmembrane transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNJ13: view

Drugs & Compounds for KCNJ13 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker, Inhibitor, Antagonist potassium channel-blocking agent 59
Magnesium Approved, Experimental, Investigational Pharma 0
Glyburide Approved Pharma Channel blocker, Inhibitor, Inhibition Kir6 (KATP) channel blocker 125
Minoxidil Approved, Investigational Pharma Activator Kir6 channel (KATP) opener 43
Nicorandil Approved, Investigational Pharma Activator Potassium channel activator, Kir6 (KATP) channel opener and NO donor 22

(5) Tocris Compounds for KCNJ13 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 KCNJ13: view

Transcripts for KCNJ13 Gene

mRNA/cDNA for KCNJ13 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for KCNJ13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for KCNJ13 Gene



Protein tissue co-expression partners for KCNJ13 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNJ13

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.

Evidence on tissue expression from TISSUES for KCNJ13 Gene

  • Nervous system(4.5)
  • Eye(4.4)
  • Intestine(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ13 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • olfactory bulb
  • skull
Abdomen:
  • liver
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with KCNJ13: view

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
chimpanzee
(Pan troglodytes)
Mammalia KCNJ13 31 30
  • 99.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ13 31 30
  • 94.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KCNJ13 31 30
  • 92.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj13 30
  • 90.56 (n)
mouse
(Mus musculus)
Mammalia Kcnj13 17 31 30
  • 90 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ13 31
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNJ13 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNJ13 31 30
  • 77.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ13 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj13 30
  • 64.87 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnj13 31 30
  • 56.87 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Irk3 31
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea irk-3 31
  • 24 (a)
OneToOne
Species where no ortholog for KCNJ13 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)

Evolution for KCNJ13 Gene

ENSEMBL:
Gene Tree for KCNJ13 (if available)
TreeFam:
Gene Tree for KCNJ13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNJ13: view image

Paralogs for KCNJ13 Gene

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

  • IRK13_HUMAN
  • C9JWD6_HUMAN
  • H7C4D1_HUMAN
genes like me logo Genes that share paralogs with KCNJ13: view

Variants for KCNJ13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNJ13 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
764938 Likely Benign: not provided 232,770,925(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
783258 Likely Benign: not provided 232,771,246(-) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
809186 Likely Benign: not provided 232,768,344(-) T/C SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs114432797 Uncertain Significance: Leber congenital amaurosis 232,767,572(-) G/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs116740510 Uncertain Significance: Leber congenital amaurosis 232,766,990(-) G/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for KCNJ13 Gene

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

Variant ID Type Subtype PubMed ID
nsv460134 CNV loss 19166990
nsv584696 CNV loss 21841781
nsv834570 CNV gain 17160897

Variation tolerance for KCNJ13 Gene

Residual Variation Intolerance Score: 34.2% 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)

Additional Variant Information for KCNJ13 Gene

Human Gene Mutation Database (HGMD)
KCNJ13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ13

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

Disorders for KCNJ13 Gene

MalaCards: The human disease database

(17) MalaCards diseases for KCNJ13 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KCJ13_HUMAN
  • 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.
  • 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.

Additional Disease Information for KCNJ13

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 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 KH (Genomics 1998) 2 3 4 23 54
  2. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. (PMID: 18179896) Hejtmancik JF … Edwards AO (American journal of human genetics 2008) 3 4 23 54
  3. Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium. (PMID: 18035352) Yang D … Hughes BA (Experimental eye research 2008) 3 4 23 54
  4. A novel inward rectifier K+ channel with unique pore properties. (PMID: 9620703) Krapivinsky G … Clapham DE (Neuron 1998) 2 3 4 54
  5. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. (PMID: 21763485) Sergouniotis PI … Webster AR (American journal of human genetics 2011) 3 4 54

Products for KCNJ13 Gene

Sources for KCNJ13 Gene