KCNJ1 (potassium inwardly rectifying channel subfamily J member 1)

Gene

• Entrez ID: 3758
• Gene name: Potassium inwardly rectifying channel subfamily J member 1
• Gene symbol: KCNJ1
• Synonyms (NCBI Gene): KIR1.1, ROMK, ROMK1
• Chromosome: 11
• Chromosome location: 11q24.3
• Summary: Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by inter

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs59172778	A>G	Benign, pathogenic	Coding sequence variant, missense variant
rs104894244	G>A,C	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs104894245	G>C	Pathogenic	Missense variant, coding sequence variant
rs104894246	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs104894250	C>G	Pathogenic	Missense variant, coding sequence variant
rs104894251	A>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs104894253	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104894254	C>T	Pathogenic	Missense variant, coding sequence variant
rs185212943	T>A,C	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs201707868	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs377205432	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs746509804	G>T	Pathogenic	Stop gained, coding sequence variant
rs768286324	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs769554073	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT527653	hsa-miR-5195-5p	PAR-CLIP	22012620
MIRT527652	hsa-miR-5196-3p	PAR-CLIP	22012620
MIRT527651	hsa-miR-4793-5p	PAR-CLIP	22012620
MIRT527650	hsa-miR-5009-3p	PAR-CLIP	22012620
MIRT527649	hsa-miR-126-3p	PAR-CLIP	22012620
MIRT527647	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT527653	hsa-miR-5195-5p	PAR-CLIP	22012620
MIRT527652	hsa-miR-5196-3p	PAR-CLIP	22012620
MIRT527651	hsa-miR-4793-5p	PAR-CLIP	22012620
MIRT527650	hsa-miR-5009-3p	PAR-CLIP	22012620
MIRT527649	hsa-miR-126-3p	PAR-CLIP	22012620
MIRT527647	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT1081355	hsa-miR-1197	CLIP-seq
MIRT1081356	hsa-miR-1303	CLIP-seq
MIRT1081357	hsa-miR-1587	CLIP-seq
MIRT1081358	hsa-miR-1911	CLIP-seq
MIRT1081359	hsa-miR-3153	CLIP-seq
MIRT1081360	hsa-miR-3180-5p	CLIP-seq
MIRT1081361	hsa-miR-3617	CLIP-seq
MIRT1081362	hsa-miR-3655	CLIP-seq
MIRT1081363	hsa-miR-4270	CLIP-seq
MIRT1081364	hsa-miR-4328	CLIP-seq
MIRT1081365	hsa-miR-4436a	CLIP-seq
MIRT1081366	hsa-miR-4441	CLIP-seq
MIRT1081367	hsa-miR-4492	CLIP-seq
MIRT1081368	hsa-miR-4498	CLIP-seq
MIRT1081369	hsa-miR-4656	CLIP-seq
MIRT1081370	hsa-miR-4675	CLIP-seq
MIRT1081371	hsa-miR-4741	CLIP-seq
MIRT1081372	hsa-miR-509-3p	CLIP-seq
MIRT1081373	hsa-miR-578	CLIP-seq
MIRT1081374	hsa-miR-616	CLIP-seq
MIRT1081375	hsa-miR-641	CLIP-seq
MIRT1081376	hsa-miR-642b	CLIP-seq
MIRT1081377	hsa-miR-646	CLIP-seq
MIRT1081378	hsa-miR-665	CLIP-seq
MIRT1081379	hsa-miR-762	CLIP-seq
MIRT1081362	hsa-miR-3655	CLIP-seq
MIRT1081372	hsa-miR-509-3p	CLIP-seq
MIRT1081373	hsa-miR-578	CLIP-seq
MIRT1081374	hsa-miR-616	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	7929082
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	ISS
GO:0005267	Function	Potassium channel activity	IDA	16357011
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	12086641
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16357011
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0030001	Process	Metal ion transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IBA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IEA
GO:0070294	Process	Renal sodium ion absorption	IEA
GO:0072359	Process	Circulatory system development	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	ISS

Other IDs

• MIM: 600359
• HGNC: 6255
• e!Ensembl: ENSG00000151704

Protein

• UniProt ID: P48048
• Protein name: ATP-sensitive inward rectifier potassium channel 1 (ATP-regulated potassium channel ROM-K) (Inward rectifier K(+) channel Kir1.1) (Potassium channel, inwardly rectifying subfamily J member 1)
• 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	43 → 185	Inward rectifier potassium channel transmembrane domain	Domain
  PF17655	IRK_C	192 → 365	Inward rectifier potassium channel C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver. {ECO:0000269|PubMed:7635463}.
• Sequence:

  MNASSRNVFDTLIRVLTESMFKHLRKWVVTRFFGHSRQRARLVSKDGRCNIEFGNVEAQS
  RFIFFVDIWTTVLDLKWRYKMTIFITAFLGSWFFFGLLWYAVAYIHKDLPEFHPSANHTP
  CVENINGLTSAFLFSLETQVTIGYGFRCVTEQCATAIFLLIFQSILGVIINSFMCGAILA
  KISRPKKRAKTITFSKNAVISKRGGKLCLLIRVANLRKSLLIGSHIYGKLLKTTVTPEGE
  TIILDQININFVVDAGNENLFFISPLTIYHVIDHNSPFFHMAAETLLQQDFELVVFLDGT
  VESTSATCQVRTSYVPEEVLWGYRFAPIVSKTKEGKYRVDFHNFSKTVEVETPHCAMCLY
  NEKDVRARMKRGYDNPNFILSEVNETDDTKM

• Sequence length: 391

Pathways

KEGG:

Aldosterone-regulated sodium reabsorption
Gastric acid secretion

Reactome:

Potassium transport channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Bartter disease type 2	Likely pathogenic; Pathogenic	rs779864905, rs373198476, rs753949204, rs764778741, rs755164642, rs104894244, rs2135941091, rs104894245, rs104894253, rs104894254, rs104894250, rs104894251, rs1049368346, rs935108422, rs1213764655, rs769554073, rs762787323, rs2497572464, rs2497567253, rs201707868, rs185212943, rs377205432, rs768286324, rs746509804, rs373367600, rs1411280373, rs1380025163, rs780691086, rs764078087, rs373745258	RCV001808837 RCV005042640 RCV005042751 RCV002468723 RCV005042858 RCV000009723 RCV000009724 RCV000009725 RCV000009729 RCV000009730 RCV000009731 RCV000009732 RCV003388812 RCV003447741 RCV005047691 RCV005047748 RCV005047765 RCV003989966 RCV003991687 RCV003992016 RCV000406974 RCV000414946 RCV000763228 RCV005046972 RCV001784350 RCV000778314 RCV000855726 RCV001089940 RCV001089939 RCV006249711 RCV004799424 RCV001261008	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter syndrome	Likely pathogenic; Pathogenic	rs753949204, rs764778741, rs779747435, rs2497573845, rs104894253, rs104894254, rs758128834, rs373367600, rs764078087	RCV002240079 RCV004765526 RCV002469957 RCV003155871 RCV004579516 RCV004585994 RCV003236387 RCV003226388 RCV004798898	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal tubulopathies	Likely pathogenic; Pathogenic	rs764078087	RCV006250224	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Antenatal Bartter syndrome	Benign; Likely benign; Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BARTTER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, ANTENATAL , TYPE 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 2, ANTENATAL	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNJ1-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	25165391, 28544176		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG	23341834		★☆☆☆☆ Found in Text Mining only
Antenatal Bartter syndrome	Antenatal Bartter Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	Gordon syndrome	BEFREE	25503323		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21458570		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	10532965, 10611379, 10878442, 11810218, 12122007, 12130653, 12381810, 12640382, 12911542, 15980941, 17401586, 21071987, 21431899, 21631963, 21865213, 22245519, 24659592, 25344677, 29092859, 31441846, 9002665, 9015377, 9690036, 9727001, 9848791, 9988141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	CTD_human_DG	10561751, 12911542, 22275899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	LHGDN	12589089, 17401586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Syndrome	Bartter syndrome	Pubtator	10611379, 12472765, 12589089, 12911530, 15287206, 17401586, 22441188, 24659592, 25344677, 29953267, 31441846, 34663630, 35761198, 37956218	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter syndrome type 3	Bartter syndrome	Pubtator	17401586, 18443236, 32590952, 34663630, 35195872, 35761198, 37537162, 37956218, 40428323	Associate	★☆☆☆☆ Found in Text Mining only
Bartter syndrome, antenatal , type 2	Bartter syndrome	BEFREE	18443236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, antenatal , type 2	Bartter syndrome	GENOMICS_ENGLAND_DG	23341834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, antenatal , type 2	Bartter syndrome	UNIPROT_DG	8841184, 9002665, 9727001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, antenatal , type 2	Bartter syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, antenatal , type 2	Bartter syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, antenatal type 1	Bartter syndrome	ORPHANET_DG	23782368, 8841184, 9002665		★☆☆☆☆ Found in Text Mining only
Bartter syndrome, type 3	Bartter syndrome	BEFREE	12920401		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25344677	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	19096086		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19096086		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25344677		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31480784	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22907731, 25344677		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36313769	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22907731, 25344677		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25344677	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	8621016, 9032109, 9867219		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	20810575, 20848653, 9988141		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman syndrome	Pubtator	29953267	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	12130653, 29092859		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	21071987, 28979772		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	17401586	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkalemia	Hyperkalemia	Pubtator	12589089, 18550644	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18391953, 18443236, 30113482	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	22228705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	29222092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemic Nephropathy, Familial Juvenile 1	Hyperuricemic Nephropathy	BEFREE	21081491		★☆☆☆☆ Found in Text Mining only
Hypochloremia (disorder)	Hypochloremia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypokalemic alkalosis	Hypokalemia	BEFREE	21071987		★☆☆☆☆ Found in Text Mining only
Hypokalemic metabolic alkalosis	Hypokalemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	18391953, 18443236, 30113482	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	7601286		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21458570		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	19096086		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25344677		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	8621016		★☆☆☆☆ Found in Text Mining only
Medullary Cystic Kidney Disease Type 2	Medullary Cystic Kidney Disease	BEFREE	21081491		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25344677		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	19096086, 21431899, 28979772		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	35761198	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoaldosteronism	BEFREE	17401586		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoaldosteronism	LHGDN	17401586		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoparathyroidism	Pubtator	17401586	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	BEFREE	25503323		★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	20110696		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31436597		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	9261995		★☆☆☆☆ Found in Text Mining only