CLCNKA - chloride voltage-gated channel Ka Gene

Homo sapiens

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

Gene ID: 1187 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02760	CLCNKA Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CLCNKA	RGD	RGD:68435

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