KCNJ16 - potassium inwardly rectifying channel subfamily J member 16 Gene

Also Known as BIR9; HKTD; KIR5.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3773

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	Références	Source
enables inward rectifier potassium channel activity	IGI IGI: Inferred from genetic interaction	20651251	GOA

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

Cellular Component GO Annotation	Evidence	Références	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
400
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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS07143	KCNJ16 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	KCNJ16	NCBI