CLCNKA - chloride voltage-gated channel Ka Gene

Also Known as CLCK1; ClC-K1; hClC-Ka

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1187

About CLCNKA

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:16,022,036-16,034,050 (from NCBI)

This gene has 7 transcripts (splice variants), 117 orthologues, 8 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 55.9), salivary gland (RPKM 4.5) and 1 other tissue.

Summary

This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CLCNKA Products (3)

mRNA	Protein	Name
NM_001042704.2	NP_001036169.1	chloride channel protein ClC-Ka isoform 2
NM_001257139.2	NP_001244068.1	chloride channel protein ClC-Ka isoform 3
NM_004070.4	NP_004061.3	chloride channel protein ClC-Ka isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables chloride channel activity	IDA IDA: Inferred from direct assay	12111250	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17562318	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12111250	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

CLCNKA Protein Structure

Voltage_CLC

CBS

0
200
400
600
687 a.a.

Protein Preferred Names	Protein Names
chloride channel protein ClC-Ka	chloride channel Ka

CLCNKA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CLCNKA	P51800	CLCNKA	Homo sapiens	P51800	Solution Sedimentation	17562318
Intra	CLCNKA	P51800	CLCNKA	Homo sapiens	P51800	X-Ray Diffraction	17562318

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Bartter Syndrome, Type 4b, Neonatal, With Sensorineural Deafness	BARTS4B Bartter Syndrome, Type 4b, Digenic Bartter Disease Type 4b Neonatal Bartter Syndrome Type 4b With Sensorineural Deafness Bartter Syndrome 4b, Neonatal, With Sensorineural Deafness Bartter Syndrome 4b Bsnd Infantile Bartter Syndrome With Sensorineural Deafness Bartter Syndrome, Type 4b Bartter Syndrome, Type 4a
Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness	Bsnd Sensorineural Deafness With Mild Renal Dysfunction Bartter Disease Type 4a BARTS4A Bartter Syndrome, Type 4a Bartter Syndrome Type 4 Bartter Syndrome, Neonatal, With Sensorineural Deafness Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type 4a Neonatal Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type Iv Bartter Syndrome With Sensorineural Hearing Loss Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness Hyperprostanglandin E Syndrome 4 Hypokalemic Alkalosis With Hypercalciuria Antenatal 4 Infantile Bartter Syndrome With Sensorineural Deafness
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
Diabetes Insipidus
Uterine Adnexa Cancer
Deafness, Autosomal Recessive 96	DFNB96 Autosomal Recessive Nonsyndromic Deafness 96 Autosomal Recessive Deafness 96
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Waardenburg Syndrome, Type 4b	Waardenburg Syndrome Type 4b WS4B Waardenburg Syndrome Type Ivb Waardenburg Syndrome With Hirschsprung Disease Type 4b Waardenburg Syndrome, Type 4b, With Hirschsprung Disease Waardenburg Syndrome, Type Ivb Waardenburg Syndrome 4b Hirschsprung Disease With Pigmentary Anomaly Shah-Waardenburg Syndrome Waardenburg-Shah Syndrome Waardenburg Syndrome, Type 4a
Nephrogenic Diabetes Insipidus	Vasopressin-Resistant Diabetes Insipidus Diabetes Insipidus, Nephrogenic Diabetes Insipidus Nephrogenic Congenital Nephrogenic Diabetes Insipidus Adh Resistant Diabetes Insipidus Diabetes Insipidus Nephrogenic X-Linked Diabetes Insipidus Nephrogenic Type 1 Adh-Resistant Diabetes Insipidus Diabetes Insipidus Renalis Ndi Renal Diabetes Insipidus Familial Nephrogenic Diabetes Antidiuretic-Hormone-Resistant Diabetes Insipidus Adiuretin-Resistant Diabetes Insipidus Ndi - [Nephrogenic Diabetes Insipidus] Diabetes Tenuifluus Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus Hereditary Nephrogenic Diabetes Insipidus Familial Nephrogenic Diabetes Insipidus Primary Nephrogenic Diabetes Insipidus
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
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
Bartter Syndrome, Type 3	Bartter Disease Type 3 BARTS3 Bartter Syndrome Type 3 Bartter Syndrome, Classic Classic Bartter Syndrome Bartter Syndrome Classic Bartter Syndrome Type Iii Bartter Syndrome 3
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
Orofaciodigital Syndrome X	OFD10 Orofaciodigital Syndrome With Fibular Aplasia Oral-Facial-Digital Syndrome With Fibular Aplasia Ofds X Oral-Facial-Digital Syndrome, Type X Orofaciodigital Syndrome 10 Ofd Syndrome 10 Ofds 10 Oral Facial Digital Syndrome 10 Oral Facial Digital Syndrome Type 10 Oral-Facial-Digital Syndrome 10 Orofaciodigital Syndrome Type Figuera Orofaciodigital Syndrome Type 10 Figuera Syndrome Oral-Facial-Digital Syndrome Type 10
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Hypomagnesemia 4, Renal	Renal Hypomagnesemia 4 HOMG4 Hypomagnesemia, Renal, Normocalciuric Hypomagnesemia 4 Renal Hypomagnesemia Normocalciuric Hypomagnesemia, Type 4, Renal
Bartter Syndrome, Type 1, Antenatal	Hyperprostaglandin E Syndrome 1 Bartter Disease Type 1 BARTS1 Bartter Syndrome, Type 1 Bartter Syndrome Type 1 Hypokalemic Alkalosis With Hypercalciuria Antenatal 1 Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal Bartter Syndrome Type 1 Antenatal Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal Bartter Syndrome Antenatal Type 1 Antenatal Bartter Syndrome Type 1 Bartter Syndrome Type I Bartter Syndrome 1, Antenatal Abs1 Antenatal Bartter Syndrome 1 Bs1 Bartter Syndrome, Antenatal Type 1 Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Bartter Syndrome, Type 2, Antenatal	Bartter Disease Type 2 BARTS2 Hyperprostaglandin E Syndrome 2 Bartter Syndrome, Type 2 Bartter Syndrome Type 2 Hypokalemic Alkalosis With Hypercalciuria Antenatal 2 Hypokalemic Alkalosis With Hypercalciuria 2, Antenatal Bartter Syndrome Type 2 Antenatal Hypokalemic Alkalosis With Hypercalciuria 2 Antenatal Bartter Syndrome Antenatal Type 2 Bartter Syndrome Type Ii Bartter Syndrome 2, Antenatal Abs2 Antenatal Bartter Syndrome 2 Bartter Syndrome 2 Bs2 Hyperprostanglandin E Syndrome 2 Bartter Syndrome, Antenatal , Type 2 Antley-Bixler Syndrome, Autosomal Dominant
Myotonia Congenita	Congenital Myotonia, Autosomal Dominant Form Congenital Myotonia Thomsen And Becker Disease Thomsen Disease Thomsen'S Disease Generalized Myotonia Of Thomsen Congenital Myotonic Muscular Dystrophy Myotonia Congenita Nos
Polyhydramnios
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter

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.	상품명	효과	Purity	Rare Diseases
HY-RS02760	CLCNKA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CLCNKA	RGD	RGD:68435
Others	CLCNKA	NCBI