KCNJ16 - potassium inwardly rectifying channel subfamily J member 16 Gene

Homo sapiens

Also known as BIR9; HKTD; KIR5.1

Gene ID: 3773 | Gene type: protein coding

About KCNJ16

Cytogenetic location: 17q24.3 Genomic coordinates (GRCh38): 17:70,075,225-70,135,608 (from NCBI)

This gene has 10 transcripts (splice variants), 255 orthologues, 15 paralogues and is associated with 1 phenotype. Biased expression in kidney (RPKM 78.7), thyroid (RPKM 73.9) and 4 other tissues.

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, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two Other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

KCNJ16 Products(8)

mRNA	Protein	Name
NM_001270422.2	NP_001257351.1	inward rectifier potassium channel 16 isoform b
NM_001291622.3	NP_001278551.2	inward rectifier potassium channel 16 isoform b
NM_001291623.2	NP_001278552.2	inward rectifier potassium channel 16 isoform b
NM_001291624.1	NP_001278553.1	inward rectifier potassium channel 16 isoform b
NM_001291625.1	NP_001278554.1	inward rectifier potassium channel 16 isoform b
NM_018658.4	NP_061128.3	inward rectifier potassium channel 16 isoform b
NM_170741.4	NP_733937.3	inward rectifier potassium channel 16 isoform b
NM_170742.3	NP_733938.3	inward rectifier potassium channel 16 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables inward rectifier potassium channel activity	IGI IGI: Inferred from genetic interaction	20651251	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within potassium ion transmembrane transport	IGI IGI: Inferred from genetic interaction	20651251	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	20651251	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNJ16 Protein Structure

IRK

0
100
200
300
418 a.a.

Protein Preferred Names

Protein Names

inward rectifier potassium channel 16

inward rectifier K(+) channel Kir5.1

Related Diseases

Diseases

Alias

Hypokalemic Tubulopathy And Deafness

HKTD

Hypokalemia

Potassium Deficiency	Potassium Deficiency Disorder
Hypopotassemia	Potassium
Potassium [K] Deficiency	Hypokalaemic Syndrome
Hypopotassaemia	Hypopotassaemia Syndrome
Hypokalaemic	Potassium Depletion

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance

Sesame Syndrome	East Syndrome
SESAMES	Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance	Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome
Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome	Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance	Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome
Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance
Epilepsy Ataxia Sensorineural Deafness And Tubulopathy	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome

Campomelic Dysplasia

Acampomelic Campomelic Dysplasia	Camptomelic Dysplasia
Campomelic Dysplasia With Autosomal Sex Reversal	Cmpd
CMD1	Cmpd1
Cmpd1/Sra1	Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
Campomelic Dwarfism	Campomelic Syndrome
Dysplasia, Campomelic	Chronic Myeloproliferative Disorder
Familial Dilated Cardiomyopathy

Vitreoretinal Degeneration, Snowflake Type

Snowflake Vitreoretinal Degeneration	SVD
Snowflake Degeneration In Hereditary Vitreoretinal Degeneration

Hypomagnesemia 3, Renal

HOMG3	Renal Hypomagnesemia 3
Fhhnc Without Severe Ocular Involvement	Renal Hypomagnesemia Type 3
Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium	Hypomagnesemia, Isolated Renal
Hypomagnesemia, Familial, With Hypercalciuria And Nephrocalcinosis	Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement
Isolated Renal Hypomagnesemia	Primary Hypomagnesemia Due To Defect In Renal Tubular Transport Of Magnesium
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement	Hypomagnesemia 3
Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis	Fhhnc
Hhn	Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis
Hypomagnesemia, Type 3, Renal	Primary Hypomagnesemia

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Gitelman Syndrome

Familial Hypokalemia-Hypomagnesemia	Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria
Potassium And Magnesium Depletion	GTLMNS
Gitelman'S Syndrome	Gs
Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria	Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria
Bartter Syndrome Gitelman Variant	Bartter Syndrome Hypocalciuric Variant
Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria

Bartter Disease

Bartter Syndrome	Bartter'S Syndrome
Aldosteronism With Hyperplasia Of The Adrenal Cortex	Hypokalemic Alkalosis With Hypercalciuria
Potassium Wasting	Juxtaglomerular Hyperplasia With Secondary Aldosteronism
Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria	Salt-Losing Tubular Disorder, Henle'S Loop Type
Salt-Wasting Tubulopathy, Henle'S Loop Type	Bartters Syndrome

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07143	KCNJ16 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KCNJ16	RGD	RGD:61824
Mus musculus	KCNJ16	MGD	MGI:1314842
Felis catus	KCNJ16	VGNC	VGNC:67914
Macaca mulatta	KCNJ16	VGNC	VGNC:73987
Canis familiaris	KCNJ16	VGNC	VGNC:42262
Bos taurus	KCNJ16	VGNC	VGNC:30459

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