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KCNJ13 (potassium voltage-gated channel subfamily J member 13)

Identity

Alias_namespotassium inwardly-rectifying channel
Alias_symbol (synonym)Kir7.1
Kir1.4
LCA16
Other aliasKIR1.4
KIR7.1
SVD
HGNC (Hugo) KCNJ13
LocusID (NCBI) 3769
Atlas_Id 53158
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 232765802 and ends at 232776565 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KCNJ13   6259
Cards
Entrez_Gene (NCBI)KCNJ13  3769  potassium voltage-gated channel subfamily J member 13
AliasesKIR1.4; KIR7.1; LCA16; SVD
GeneCards (Weizmann)KCNJ13
Ensembl hg19 (Hinxton)ENSG00000115474 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115474 [Gene_View]  chr2:232765802-232776565 [Contig_View]  KCNJ13 [Vega]
ICGC DataPortalENSG00000115474
TCGA cBioPortalKCNJ13
AceView (NCBI)KCNJ13
Genatlas (Paris)KCNJ13
WikiGenes3769
SOURCE (Princeton)KCNJ13
Genetics Home Reference (NIH)KCNJ13
Genomic and cartography
GoldenPath hg38 (UCSC)KCNJ13  -     chr2:232765802-232776565 -  2q37.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNJ13  -     2q37.1   [Description]    (hg19-Feb_2009)
EnsemblKCNJ13 - 2q37.1 [CytoView hg19]  KCNJ13 - 2q37.1 [CytoView hg38]
Mapping of homologs : NCBIKCNJ13 [Mapview hg19]  KCNJ13 [Mapview hg38]
OMIM193230   603208   614186   
Gene and transcription
Genbank (Entrez)AF061118 AJ006128 AJ007557 AK314019 AY758240
RefSeq transcript (Entrez)NM_001172416 NM_001172417 NM_002242
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNJ13
Cluster EST : UnigeneHs.467338 [ NCBI ]
CGAP (NCI)Hs.467338
Alternative Splicing GalleryENSG00000115474
Gene ExpressionKCNJ13 [ NCBI-GEO ]   KCNJ13 [ EBI - ARRAY_EXPRESS ]   KCNJ13 [ SEEK ]   KCNJ13 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNJ13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3769
GTEX Portal (Tissue expression)KCNJ13
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60928   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60928  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60928
Splice isoforms : SwissVarO60928
PhosPhoSitePlusO60928
Domains : Interpro (EBI)Ig_E-set    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir_cyto    KCNJ13   
Domain families : Pfam (Sanger)IRK (PF01007)   
Domain families : Pfam (NCBI)pfam01007   
Conserved Domain (NCBI)KCNJ13
DMDM Disease mutations3769
Blocks (Seattle)KCNJ13
SuperfamilyO60928
Human Protein AtlasENSG00000115474
Peptide AtlasO60928
HPRD04441
IPIIPI00000058   IPI00917924   IPI00795898   IPI00916204   
Protein Interaction databases
DIP (DOE-UCLA)O60928
IntAct (EBI)O60928
FunCoupENSG00000115474
BioGRIDKCNJ13
STRING (EMBL)KCNJ13
ZODIACKCNJ13
Ontologies - Pathways
QuickGOO60928
Ontology : AmiGOinward rectifier potassium channel activity  inward rectifier potassium channel activity  integral component of plasma membrane  potassium ion transport  potassium ion import  regulation of ion transmembrane transport  
Ontology : EGO-EBIinward rectifier potassium channel activity  inward rectifier potassium channel activity  integral component of plasma membrane  potassium ion transport  potassium ion import  regulation of ion transmembrane transport  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkKCNJ13
Atlas of Cancer Signalling NetworkKCNJ13
Wikipedia pathwaysKCNJ13
Orthology - Evolution
OrthoDB3769
GeneTree (enSembl)ENSG00000115474
Phylogenetic Trees/Animal Genes : TreeFamKCNJ13
HOVERGENO60928
HOGENOMO60928
Homologs : HomoloGeneKCNJ13
Homology/Alignments : Family Browser (UCSC)KCNJ13
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNJ13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ13
dbVarKCNJ13
ClinVarKCNJ13
1000_GenomesKCNJ13 
Exome Variant ServerKCNJ13
ExAC (Exome Aggregation Consortium)KCNJ13 (select the gene name)
Genetic variants : HAPMAP3769
Genomic Variants (DGV)KCNJ13 [DGVbeta]
DECIPHERKCNJ13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNJ13 
Mutations
ICGC Data PortalKCNJ13 
TCGA Data PortalKCNJ13 
Broad Tumor PortalKCNJ13
OASIS PortalKCNJ13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNJ13  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNJ13
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch KCNJ13
DgiDB (Drug Gene Interaction Database)KCNJ13
DoCM (Curated mutations)KCNJ13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNJ13 (select a term)
intoGenKCNJ13
Cancer3DKCNJ13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM193230    603208    614186   
Orphanet3243    12155   
MedgenKCNJ13
Genetic Testing Registry KCNJ13
NextProtO60928 [Medical]
TSGene3769
GENETestsKCNJ13
Target ValidationKCNJ13
Huge Navigator KCNJ13 [HugePedia]
snp3D : Map Gene to Disease3769
BioCentury BCIQKCNJ13
ClinGenKCNJ13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3769
Chemical/Pharm GKB GenePA30044
Clinical trialKCNJ13
Miscellaneous
canSAR (ICR)KCNJ13 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNJ13
EVEXKCNJ13
GoPubMedKCNJ13
iHOPKCNJ13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:14:07 CEST 2017

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