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

Homo sapiens

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

Gene ID: 51305 | Gene type: protein coding

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

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-139064	NPBA	Modulator	99.98%	Unkown
HY-RS07163	KCNK9 Human Pre-designed siRNA Set A		/	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

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