CLCN5 - chloride voltage-gated channel 5 Gene

Also Known as XRN; CLC5; XLRH; CLCK2; ClC-5; DENT1; DENTS; NPHL1; NPHL2; hCIC-K2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1184

About CLCN5

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:49,922,596-50,099,230 (from NCBI)

This gene has 9 transcripts (splice variants), 224 orthologues, 8 paralogues and is associated with 5 phenotypes. Biased expression in kidney (RPKM 20.4), liver (RPKM 3.6) and 13 other tissues.

Summary

This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

CLCN5 Products (5)

mRNA	Protein	Name
NM_000084.5	NP_000075.1	H(+)/Cl(-) exchange transporter 5 isoform b
NM_001127898.4	NP_001121370.1	H(+)/Cl(-) exchange transporter 5 isoform a
NM_001127899.4	NP_001121371.1	H(+)/Cl(-) exchange transporter 5 isoform a
NM_001272102.2	NP_001259031.1	H(+)/Cl(-) exchange transporter 5 isoform c
NM_001282163.2	NP_001269092.1	H(+)/Cl(-) exchange transporter 5 isoform d

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	17195847	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19940036	GOA
enables voltage-gated chloride channel activity	IMP IMP: Inferred from mutant phenotype	8559248	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in chloride transport	IMP IMP: Inferred from mutant phenotype	8559248	GOA
involved in renal system process	IMP IMP: Inferred from mutant phenotype	8559248	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in apical part of cell	IDA IDA: Inferred from direct assay	14675051	GOA
located in membrane	IDA IDA: Inferred from direct assay	14675051	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

CLCN5 Protein Structure

Voltage_CLC

CBS

0
200
400
600
746 a.a.

Protein Preferred Names	Protein Names
H(+)/Cl(-) exchange transporter 5	chloride channel, voltage-sensitive 5

CLCN5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	CLCN5	P51795	CLCN3	Homo sapiens	P51790	Anti Tag CoIP	33961781
Intra	CLCN5	P51795	CLCN5	Homo sapiens	P51795	Solution Sedimentation	17195847
Intra	CLCN5	P51795	TMEM9	Homo sapiens	Q9P0T7	Anti Tag CoIP	33961781
Intra	CLCN5	P51795	APPL2	Homo sapiens	Q8NEU8	Anti Tag CoIP	33961781
Intra	CLCN5	P51795	KIF3B	Homo sapiens	O15066	Anti Tag CoIP	19940036
Intra	CLCN5	P51795	LGALS3	Homo sapiens	P17931	Anti Tag CoIP	33961781
Intra	CLCN5	P51795	KIF3B	Homo sapiens	O15066	Y2H	19940036
Intra	CLCN5	P51795	CREB3	Homo sapiens	O43889-2	Validated Y2H	25910212
Intra	CLCN5	P51795	CLCN5	Homo sapiens	P51795	X-Ray Diffraction	17195847
Intra	CLCN5	P51795	CREB3	Homo sapiens	O43889-2	Y2H Array	25910212
Intra	CLCN5	P51795	KIF3B	Homo sapiens	O15066	Pull Down	19940036

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Rickets X-Linked Recessive Hypophosphatemic Rickets XLRHR Hypophosphatemic Rickets Disorders Rickets Hypophosphatemic Rickets, Hypophosphatemic, X-Linked Recessive Familial Hypophosphatemic Rickets
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Proteinuria, Low Molecular Weight, With Hypercalciuric Nephrocalcinosis Low Molecular Weight Proteinuria With Hypercalciuric Nephrocalcinosis Low Molecular Weight Proteinuria With Hypercalciuria And Nephrocalcinosis LMWPHN
Nephrolithiasis, X-Linked Recessive, With Renal Failure	X-Linked Recessive Nephrolithiasis With Renal Failure XRN Nephrolithiasis 1 Nphl1 Nephrolithiasis, Type I Nephrolithiasis, X-Linked Recessive, Type 1 Urolithiasis, X-Linked Recessive, Type 1 Kidney Calculi Nephrolithiasis
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Nephrocalcinosis	Hypercalcemic Nephropathy
Rickets	Vitamin D Deficiency Vitamin D Active Rickets Hypovitaminosis D Nutritional Rickets Vitamin D Deficiency Disease Vitamin-D Deficiency Rickets Vitamin D-Dependent Rickets Avitaminosis D Infantile Osteomalacia Juvenile Osteomalacia
Aminoaciduria
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
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
Nephrolithiasis, Calcium Oxalate	Kidney Stones Calculus Of Kidney Kidney Calculi Nephrolithiasis Renal Calculi Calcium Oxalate Urolithiasis CAON Urolithiasis, Calcium Oxalate Calcium Oxalate Nephrolithiasis Kidney Stone Nephrolith Renal Calculus Urinary Stones Renal Stone Calculus, Kidney Calculus, Renal Renal Lithiasis Renal Stones Urolithiasis Renal Calculus Or Stone Stone In Kidney Nephritic Calculus Multiple Kidney Calculi Multiple Kidney Calculus Nephrolithiasis Nos Pelvic Nephrolithiasis Pelviolithiasis Pelvis Nephrolithiasis
Hypercalciuria, Absorptive, 2	HCA2 Hypercalciuria, Absorptive, Susceptibility To Hypercalciuria, Absorptive Familial Idiopathic Hypercalciuria Hypercalciuria, Familial Idiopathic Hypercalciuria Absorptive 2 Hypercalciuria Familial Idiopathic Hypercalciuria, Absorptive, Type 2 Hypercalciuria
Hypophosphatemia	Vitamin D-Resistant Rickets Hereditary Hypophosphatemic Rickets Vdrr Vitamin D Resistant Rickets Hypophosphatemic Rickets, X-Linked Dominant Familial Hypophosphatemic Rickets
Donnai-Barrow Syndrome	Faciooculoacousticorenal Syndrome Dbs/Foar Syndrome Foar Syndrome Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome Facio-Oculo-Acoustico-Renal Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome Holmes-Schepens Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness DBS Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss Donnai Barrow Syndrome
Lowe Oculocerebrorenal Syndrome	Lowe Syndrome Oculocerebrorenal Syndrome OCRL Oculocerebrorenal Syndrome Of Lowe Ocrl1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Lowe Disease Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency Cerebrooculorenal Syndrome Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Lowe Oculo-Cerebro-Renal Dystrophy Lowe Oculo-Cerebro-Renal Syndrome Lowe Oculocerebrorenal Dystrophy Low Chromosome 11p Deletion Syndrome Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Ocrl1 - [Oculocerebrorenal Syndrome] Lowe-Terrey-Maclachlan Syndrome Renal-Oculocerebrodystrophy
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemic Nephrolithiasis/Osteoporosis 1 NPHLOP1 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hereditary Hypophosphatemic Rickets With Hypercalciuria HHRH Hypophosphatemic Rickets With Hypercalciuria Hypercalciuric Rickets
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
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Ureteral Obstruction
Adenine Phosphoribosyltransferase Deficiency	Aprt Deficiency 2,8-Dihydroxyadenine Urolithiasis APRTD 2,8-Dihydroxyadeninuria Dihydroxyadeninuria Urolithiasis, 2,8-Dihydroxyadenine Urolithiasis, Dha Nephrolithiasis, Dha Dha Crystalline Nephropathy Nephrolithiasis Dha Urolithiasis Dha
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
X-Linked Nephrolithiasis Type I	Nephrolithiasis 1 Nephrolithiasis X-Linked Recessive Type 1 Nphl1 X-Linked Nephrolithiasis With Renal Failure X-Linked Recessive Urolithiasis Type 1 Xrn
Night Blindness	Nyctalopia
Hypophosphatemic Nephrolithiasis/Osteoporosis	Nephrolithiasis/Osteoporosis, Hypophosphatemic
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Cystinuria	CSNU Cystinuria Type B Cystinuria Type A Cystinuria, Type I, Formerly Csnu1, Formerly Cystinuria, Type Ii, Formerly Cystinuria, Type Iii, Formerly Csnu3, Formerly Cystinuria, Type Non-I, Formerly Cystinuria-Lysinuria Cystinuria-Lysinuria Syndrome Csnu1 Csnu3 Cystinuria 1 Cystinuria Type A/B Cystinuria Type I Cystinuria Type Ii Cystinuria Type Iii Cystinuria Type Non-I Cystinuria, Type A/B Cystinuria Type 1 Cystinuria - Lysinuria Csnu - [Cystinuria] Cystine Disease
Cystinosis	Cystine Storage Disease Cystine Diathesis Cystine Disease Cystinoses Protein Defect Of Cystin Transport Cystin Transport, Protein Defect Of Nephropathic Cystinosis Protein Defect Of Cystine Transport
Schimmelpenning-Feuerstein-Mims Syndrome	Nevus Sebaceus Of Jadassohn Organoid Nevus Phakomatosis Linear Nevus Sebaceous Syndrome Sfm Syndrome Jadassohn Nevus Phakomatosis Jnp Schimmelpenning Syndrome Solomon Syndrome SFM Linear Sebaceous Nevus Syndrome Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic Nevus Sebaceus Syndrome Organoid Nevus Syndrome Schimmelpenning Feuerstein Mims Syndrome Sebaceous Nevus Syndrome, Linear Epidermal Nevus Syndrome, Formerly Sebaceous Nevus Syndrome Linear Linear Nevus Sebaceus Syndrome Epidermal Nevus Syndrome Ss Nevus Sebaceous
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Megalencephalic Leukoencephalopathy With Subcortical Cysts	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Mlc Van Der Knaap Disease Lvm Leukoencephalopathy With Swelling And Cysts Megalencephaly-Cystic Leukodystrophy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome Infantile Leukoencephalopathy And Megalencephaly Leukoencephalopathy With Swelling And A Discrepantly Mild Course Vacuolating Leukoencephalopathy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystrophy Syndrome Van Der Knaap Syndrome Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS02757	CLCN5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CLCN5	MGD	MGI:99486
Canis familiaris	CLCN5	VGNC	VGNC:39305
Felis catus	CLCN5	VGNC	VGNC:60927
Bos taurus	CLCN5	VGNC	VGNC:27399
Rattus norvegicus	CLCN5	RGD	RGD:2362
Macaca mulatta	CLCN5	VGNC	VGNC:71238
Others	CLCN5	NCBI