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 5
  • Inward Rectifier Potassium Channel 13 3 4
  • Inward Rectifier K(+) Channel Kir7.1 3 4
  • LCA16 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 13 2
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 13 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 13 4
  • Potassium Voltage-Gated Channel Subfamily J Member 13 3
  • KIR1.4 3
  • KIR7.1 3
  • KCNJ13 5
  • Kir7.1 2
  • Kir1.4 2
  • 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 Leber Congenital Amaurosis 16 and Vitreoretinal Degeneration, Snowflake Type. 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

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 Pubs

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 1.4 EPDnew Ensembl ENCODE 250.7 +0.2 214 5.1 JUND FOXA2 CTBP1 BATF ATF2 JUNB HDAC2 MAFK IKZF1 IKZF2 KCNJ13 SNORC NGEF HSALNG0023053 GIGYF2
GH02J232872 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10 -98.8 -98796 4.9 POLR2A KLF11 HOMEZ CTCF ELF1 ZNF511 SAP130 MIER3 RARA DMAP1 SNORC HSALNG0023058 lnc-SNORC-2 NGEF GIGYF2 LOC101928881 KCNJ13 ATG16L1 SCARNA5 piR-51245
GH02J232650 Enhancer 1 Ensembl ENCODE dbSUPER 10.5 +124.0 124003 3.5 CEBPA ZIC2 ZBTB7B ZNF217 CTBP1 RXRA PRDM6 SMARCE1 FOXA1 DPF2 ENSG00000237126 GIGYF2 KCNJ13 ECEL1 SAG EFHD1 HSALNG0023047 RN7SL359P SNODB1027
GH02J233266 Enhancer 1.1 Ensembl ENCODE dbSUPER 10 -492.8 -492766 6.3 BCLAF1 JUND GABPA FOXA2 RXRA CBFB BHLHE40 SMARCE1 ELF1 FOXA1 ATG16L1 SAG KCNJ13 GIGYF2 SCARNA5 HSALNG0023077
GH02J232654 Enhancer 1 Ensembl ENCODE dbSUPER 9.9 +120.5 120507 2.9 YY1 FOXA2 RXRA ZBTB33 JUND FOXA1 HNF4A REST MAX ZNF687 GIGYF2 EFHD1 ENSG00000237126 RPL28P2 PPFIA1P1 KCNJ13 ECEL1 HSALNG0023047 RN7SL359P SNODB1027
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr2:232,765,802-232,776,565
(GRCh38/hg38)
Size:
10,764 bases
Orientation:
Minus strand

Previous Assembly
chr2:233,630,512-233,641,275
(GRCh37/hg19 by Entrez Gene)
Size:
10,764 bases
Orientation:
Minus strand

chr2:233,631,174-233,641,278
(GRCh37/hg19 by Ensembl)
Size:
10,105 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

Antibodies for research

  • Abcam antibodies for KCNJ13
  • Boster Bio Antibodies for KCNJ13
  • Santa Cruz Biotechnology (SCBT) Antibodies for KCNJ13

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

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

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 IEA,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 Models for research

  • Taconic Biosciences Mouse Models for KCNJ13

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ13

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 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNJ13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNJ13: view

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,IBA 21873635
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, Antagonist potassium channel-blocking agent 64
Magnesium Approved, Experimental, Investigational Pharma 0
Glyburide Approved Pharma Kir6 (KATP) channel blocker 126
Minoxidil Approved, Investigational Pharma Kir6 channel (KATP) opener 50
Nicorandil Approved, Investigational Pharma Potassium channel activator, Kir6 (KATP) channel opener and NO donor 29

(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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ13

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(4.6)
  • Eye(4.5)
  • Intestine(4.4)
  • Kidney(2.2)
  • Skin(2.1)
  • Muscle(2)

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

Primer products for research

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 29 30
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNJ13 29 30
  • 94.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNJ13 29 30
  • 92.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnj13 29
  • 90.56 (n)
Mouse
(Mus musculus)
Mammalia Kcnj13 29 16 30
  • 90 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ13 30
  • 88 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCNJ13 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KCNJ13 29 30
  • 77.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNJ13 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kcnj13 29
  • 64.87 (n)
Zebrafish
(Danio rerio)
Actinopterygii kcnj13 29 30
  • 56.87 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Irk3 30
  • 18 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea irk-3 30
  • 24 (a)
OneToOne
Species where no ortholog for KCNJ13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for KCNJ13

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
1009624 Uncertain Significance: not provided 232,770,902(-) C/G
NM_002242.4(KCNJ13):c.460+1G>C
SPLICE_DONOR_VARIANT,INTRON
1010073 Uncertain Significance: not provided 232,768,361(-) G/A
NM_002242.4(KCNJ13):c.913C>T (p.Arg305Ter)
NONSENSE,THREE_PRIME_UTR_VARIANT,INTRON
1012037 Uncertain Significance: not provided 232,771,179(-) C/A
NM_002242.4(KCNJ13):c.184G>T (p.Ala62Ser)
MISSENSE_VARIANT,INTRON
1012688 Uncertain Significance: not provided 232,768,408(-) A/G
NM_002242.4(KCNJ13):c.866T>C (p.Leu289Pro)
MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
1012689 Uncertain Significance: Snowflake vitreoretinal degeneration; not provided 232,768,690(-) C/T
NM_002242.4(KCNJ13):c.584G>A (p.Arg195Gln)
MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNJ13 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
KCNJ13

SNP Genotyping and Copy Number Assays for research

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

Disorders for KCNJ13 Gene

MalaCards: The human disease database

(29) MalaCards diseases for KCNJ13 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for KCNJ13

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KCNJ13: view

No data available for Genatlas for KCNJ13 Gene

Publications for KCNJ13 Gene

  1. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. (PMID: 18179896) Hejtmancik JF … Edwards AO (American journal of human genetics 2008) 3 4 22 72
  2. 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 22
  3. 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 72
  4. 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 22
  5. A novel inward rectifier K+ channel with unique pore properties. (PMID: 9620703) Krapivinsky G … Clapham DE (Neuron 1998) 2 3 4

Products for KCNJ13 Gene

Sources for KCNJ13 Gene