Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3769
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium inwardly rectifying channel subfamily J member 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNJ13
Synonyms (NCBI Gene) Gene synonyms aliases
KIR1.4, KIR7.1, LCA16, SVD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LCA16, SVD
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
Summary Summary of gene provided in NCBI Entrez 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 condu
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT628071 hsa-miR-548c-3p HITS-CLIP 23824327
MIRT628070 hsa-miR-4668-3p HITS-CLIP 23824327
MIRT628069 hsa-miR-605-5p HITS-CLIP 23824327
MIRT628068 hsa-miR-4267 HITS-CLIP 23824327
MIRT628067 hsa-miR-302a-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005242 Function Inward rectifier potassium channel activity IBA 21873635
GO:0005242 Function Inward rectifier potassium channel activity NAS 9738472
GO:0005886 Component Plasma membrane IBA 21873635
GO:0006813 Process Potassium ion transport NAS 9738472
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603208 6259 ENSG00000115474
Protein
UniProt ID O60928
Protein name Inward rectifier potassium channel 13 (Inward rectifier K(+) channel Kir7.1) (Potassium channel, inwardly rectifying subfamily J member 13)
Protein 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 potass
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01007 IRK 21 163 Inward rectifier potassium channel transmembrane domain Domain
PF17655 IRK_C 170 338 Inward rectifier potassium channel C-terminal domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:9738472}.
Sequence
Sequence length 360
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Protein digestion and absorption  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Keratoconus Keratoconus rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Unknown
Disease term Disease name Evidence References Source
Leber Congenital Amaurosis Leber congenital amaurosis, Leber congenital amaurosis 16 GenCC
Snowflake vitreoretinal degeneration snowflake vitreoretinal degeneration GenCC
Associations from Text Mining
Disease Name Relationship Type References
Amaurosis congenita of Leber type 1 Associate 30686507, 40294858
Atrophy Associate 40294858
Blindness Associate 30686507
Cataract Associate 35477418
Channelopathies Associate 30686507
Coronary Artery Disease Associate 28209224
Intervertebral Disc Degeneration Associate 35477418
Leber Congenital Amaurosis Associate 30257863, 30686507, 35477418
Macular Degeneration Associate 35477418
Nerve Degeneration Associate 29058194