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KCNK9 - potassium two pore domain channel subfamily K member 9 Gene

Also Known as KT3.2; TASK3; BIBARS; K2p9.1; TASK-3; TASK32

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51305

About KCNK9

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:139,600,838-139,703,123 (from NCBI)

This gene has 12 transcripts (splice variants), 221 orthologues, 14 paralogues and is associated with 3 phenotypes. Biased expression in adrenal (RPKM 2.3) and brain (RPKM 2.1).

Summary

This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent Potassium Channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

KCNK9 Products (1)

mRNA	Protein	Name
NM_001282534.2	NP_001269463.1	potassium channel subfamily K member 9

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables outward rectifier potassium channel activity	IDA IDA: Inferred from direct assay	26919430	GOA
enables potassium channel activity	IDA IDA: Inferred from direct assay	11042359	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within potassium ion import across plasma membrane	IDA IDA: Inferred from direct assay	11042359	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	11042359	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

KCNK9 Protein Structure

Ion_trans_2

0
100
200
300
374 a.a.

Protein Preferred Names	Protein Names
potassium channel subfamily K member 9	TWIK-related acid-sensitive K(+) channel 3

KCNK9 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810313	KCNK9 Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Birk-Barel Syndrome	Birk-Barel Mental Retardation Dysmorphism Syndrome BIBARS Mental Retardation With Hypotonia And Facial Dysmorphism Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome Kcnk9 Imprinting Syndrome
Kcnk9 Imprinting Syndrome	Birk-Barel Syndrome Birk-Barel Mental Retardation Dysmorphism Syndrome Intellectual Disability, Birk-Barel Type Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome Mental Retardation With Hypotonia And Facial Dysmorphism
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Central Sleep Apnea	Central Sleep Apnea Syndrome Sleep Apnea, Central Primary Central Sleep Apnea Central Sleep Apnea, Primary Central Sleep Apnoea Syndrome Csa - [Central Sleep Apnoea] Csas - [Central Sleep Apnoea Syndrome] Central Sleep Apnoea Due To Substances Including Medications
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	CLIFAHDD Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome Clifahdd Syndrome Doid:0081048 Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
Adrenal Cortical Adenocarcinoma	Adrenal Cortex Adenocarcinoma Adrenocortical Carcinoma
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-139064	NPBA	Modulator	99.56%	Unkown
HY-RS07163	KCNK9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KCNK9	VGNC	VGNC:42280
Bos taurus	KCNK9	VGNC	VGNC:30478
Macaca mulatta	KCNK9	VGNC	VGNC:73997
Rattus norvegicus	KCNK9	RGD	RGD:621451
Mus musculus	KCNK9	MGD	MGI:3521816
Others	KCNK9	NCBI