Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3773
Gene name	Potassium inwardly rectifying channel subfamily J member 16
Gene symbol	KCNJ16
Synonyms (NCBI Gene)	BIR9HKTDKIR5.1
Chromosome	17
Chromosome location	17q24.3
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. The encoded protein, whi

Show/Hide all (75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019460	hsa-miR-148b-3p	Microarray	17612493
MIRT1081437	hsa-miR-103a	CLIP-seq
MIRT1081438	hsa-miR-107	CLIP-seq
MIRT1081439	hsa-miR-1202	CLIP-seq
MIRT1081440	hsa-miR-1289	CLIP-seq
MIRT1081441	hsa-miR-137	CLIP-seq
MIRT1081442	hsa-miR-148a	CLIP-seq
MIRT1081443	hsa-miR-148b	CLIP-seq
MIRT1081444	hsa-miR-150	CLIP-seq
MIRT1081445	hsa-miR-152	CLIP-seq
MIRT1081446	hsa-miR-1825	CLIP-seq
MIRT1081447	hsa-miR-1915	CLIP-seq
MIRT1081448	hsa-miR-3160-3p	CLIP-seq
MIRT1081449	hsa-miR-3164	CLIP-seq
MIRT1081450	hsa-miR-3198	CLIP-seq
MIRT1081451	hsa-miR-3545-3p	CLIP-seq
MIRT1081452	hsa-miR-3944-5p	CLIP-seq
MIRT1081453	hsa-miR-3972	CLIP-seq
MIRT1081454	hsa-miR-4294	CLIP-seq
MIRT1081455	hsa-miR-4299	CLIP-seq
MIRT1081456	hsa-miR-4309	CLIP-seq
MIRT1081457	hsa-miR-4487	CLIP-seq
MIRT1081458	hsa-miR-4710	CLIP-seq
MIRT1081459	hsa-miR-4713-5p	CLIP-seq
MIRT1081460	hsa-miR-4726-3p	CLIP-seq
MIRT1081461	hsa-miR-4792	CLIP-seq
MIRT1081462	hsa-miR-532-3p	CLIP-seq
MIRT1081463	hsa-miR-558	CLIP-seq
MIRT1081464	hsa-miR-582-3p	CLIP-seq
MIRT1081465	hsa-miR-873	CLIP-seq
MIRT1081466	hsa-miR-129-3p	CLIP-seq
MIRT1081467	hsa-miR-3163	CLIP-seq
MIRT1081468	hsa-miR-3662	CLIP-seq
MIRT1081469	hsa-miR-4276	CLIP-seq
MIRT1081470	hsa-miR-4536	CLIP-seq
MIRT1081471	hsa-miR-4687-5p	CLIP-seq
MIRT1081472	hsa-miR-577	CLIP-seq
MIRT1081473	hsa-miR-1252	CLIP-seq
MIRT1081474	hsa-miR-4274	CLIP-seq
MIRT1081475	hsa-miR-4476	CLIP-seq
MIRT1081476	hsa-miR-4495	CLIP-seq
MIRT1081477	hsa-miR-4519	CLIP-seq
MIRT1081478	hsa-miR-4533	CLIP-seq
MIRT1081479	hsa-miR-4779	CLIP-seq
MIRT1081480	hsa-miR-562	CLIP-seq
MIRT2020177	hsa-miR-1470	CLIP-seq
MIRT2020178	hsa-miR-323b-5p	CLIP-seq
MIRT2020179	hsa-miR-4263	CLIP-seq
MIRT2020180	hsa-miR-4286	CLIP-seq
MIRT2020181	hsa-miR-4469	CLIP-seq
MIRT1081476	hsa-miR-4495	CLIP-seq
MIRT2020182	hsa-miR-4667-3p	CLIP-seq
MIRT2020183	hsa-miR-576-5p	CLIP-seq
MIRT2252006	hsa-miR-142-5p	CLIP-seq
MIRT2252007	hsa-miR-15a	CLIP-seq
MIRT2252008	hsa-miR-15b	CLIP-seq
MIRT2252009	hsa-miR-16	CLIP-seq
MIRT2252010	hsa-miR-195	CLIP-seq
MIRT2252011	hsa-miR-3137	CLIP-seq
MIRT2252012	hsa-miR-340	CLIP-seq
MIRT2252013	hsa-miR-424	CLIP-seq
MIRT2252014	hsa-miR-4524	CLIP-seq
MIRT2252015	hsa-miR-4684-3p	CLIP-seq
MIRT2252016	hsa-miR-497	CLIP-seq
MIRT2252017	hsa-miR-503	CLIP-seq
MIRT2252018	hsa-miR-561	CLIP-seq
MIRT2252019	hsa-miR-646	CLIP-seq
MIRT2555283	hsa-miR-4799-5p	CLIP-seq
MIRT2555284	hsa-miR-548a-3p	CLIP-seq
MIRT2555285	hsa-miR-548e	CLIP-seq
MIRT2555286	hsa-miR-548f	CLIP-seq
MIRT2555283	hsa-miR-4799-5p	CLIP-seq
MIRT2555284	hsa-miR-548a-3p	CLIP-seq
MIRT2555285	hsa-miR-548e	CLIP-seq
MIRT2555286	hsa-miR-548f	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IBA
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IGI	20651251
GO:0005242	Function	Inward rectifier potassium channel activity	NAS	11060447
GO:0005886	Component	Plasma membrane	IBA
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:0006813	Process	Potassium ion transport	NAS	11060447
GO:0008076	Component	Voltage-gated potassium channel complex	NAS	11060447
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	20651251
GO:0016323	Component	Basolateral plasma membrane	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:0071805	Process	Potassium ion transmembrane transport	IGI	20651251
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

MIM	HGNC	e!Ensembl
605722	6262	ENSG00000153822

Q9NPI9

Protein name

Inward rectifier potassium channel 16 (Inward rectifier K(+) channel Kir5.1) (Potassium channel, inwardly rectifying subfamily J member 16)

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	37 → 175	Inward rectifier potassium channel transmembrane domain	Domain
PF17655	IRK_C	182 → 349	Inward rectifier potassium channel C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in adult and fetal kidney (at protein level). In the kidney, expressed in the proximal and distal convoluted tubules, but not in glomeruli nor collecting ducts. {ECO:0000269|PubMed:11060447, ECO:00

Sequence

MSYYGSSYHIINADAKYPGYPPEHIIAEKRRARRRLLHKDGSCNVYFKHIFGEWGSYVVD
IFTTLVDTKWRHMFVIFSLSYILSWLIFGSVFWLIAFHHGDLLNDPDITPCVDNVHSFTG
AFLFSLETQTTIGYGYRCVTEECSVAVLMVILQSILSCIINTFIIGAALAKMATARKRAQ
TIRFSYFALIGMRDGKLCLMWRIGDFRPNHVVEGTVRAQLLRYTEDSEGRMTMAFKDLKL
VNDQIILVTPVTIVHEIDHESPLYALDRKAVAKDNFEILVTFIYTGDSTGTSHQSRSSYV
PREILWGHRFNDVLEVKRKYYKVNCLQFEGSVEVYAPFCSAKQLDWKDQQLHIEKAPPVR
ESCTSDTKARRRSFSAVAIVSSCENPEETTTSATHEYRETPYQKALLTLNRISVESQM

Sequence length

418

Interactions

View interactions

	KEGG		Reactome
	Gastric acid secretion		Activation of G protein gated Potassium channels Potassium transport channels Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypokalemic tubulopathy and deafness	Pathogenic; Likely pathogenic	rs766250689, rs189237891, rs1202942323, rs138520154, rs2144303092, rs1362013257, rs377652819, rs2074092203, rs372090809	RCV001528161 RCV001528162 RCV001528163 RCV001528164 RCV001528165 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KCNJ16-related disorder	Likely pathogenic	rs368613259, rs2509887847	RCV003422437 RCV003400166	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Brugada syndrome 1	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29050937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	37466410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	25339316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	36281744	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingival Hyperplasia	Gingival diseases	Pubtator	39257002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	37466410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26663529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	39183338	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SeSAME syndrome	SeSAME Syndrome	BEFREE	20651251, 21633011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37208644	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNJ16 (potassium inwardly rectifying channel subfamily J member 16)