KCNJ13 (potassium inwardly rectifying channel subfamily J member 13)

2013-02-01 Affiliation

Identity

HGNC

KCNJ13

LOCATION

2q37.1

LOCUSID

3769

ALIAS

KIR1.4,KIR7.1,LCA16,SVD

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

Other Information

Locus ID:

NCBI: 3769
MIM: 603208
HGNC: 6259
Ensembl: ENSG00000115474

Variants:

dbSNP: 3769
ClinVar: 3769
TCGA: ENSG00000115474
COSMIC: KCNJ13

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000115474	ENST00000233826	O60928
ENSG00000115474	ENST00000409779	O60928
ENSG00000115474	ENST00000410029	O60928
ENSG00000115474	ENST00000438786	C9JWD6
ENSG00000115474	ENST00000444142	H7C4D1

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Protein digestion and absorption	KEGG	ko04974
Protein digestion and absorption	KEGG	hsa04974

References

Pubmed ID	Year	Title	Citations
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
21763485	2011	Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.	51
18179896	2008	Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.	32
25056913	2014	The inwardly rectifying K+ channel KIR7.1 controls uterine excitability throughout pregnancy.	23
25921210	2015	A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).	19
18035352	2008	Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium.	11
18094146	2008	Modulation of the Kir7.1 potassium channel by extracellular and intracellular pH.	9
23977131	2013	Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.	9
28603013	2017	Oxytocin (OXT)-stimulated inhibition of Kir7.1 activity is through PIP<sub>2</sub>-dependent Ca<sup>2+</sup> response of the oxytocin receptor in the retinal pigment epithelium in vitro.	6
18976636	2008	Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and protein Kinase C.	5

Citation

Dessen P

KCNJ13 (potassium inwardly rectifying channel subfamily J member 13)

Atlas Genet Cytogenet Oncol Haematol. 2013-02-01

Online version: http://atlasgeneticsoncology.org/gene/53158/kcnj13