CLCN7 - chloride voltage-gated channel 7 Gene

Homo sapiens

Also known as HOD; CLC7; CLC-7; OPTA2; OPTB4; PPP1R63

Gene ID: 1186 | Gene type: protein coding

About CLCN7

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,444,935-1,475,028 (from NCBI)

This gene has 16 transcripts (splice variants), 199 orthologues, 8 paralogues and is associated with 7 phenotypes. Ubiquitous expression in spleen (RPKM 16.9), kidney (RPKM 15.1) and 25 other tissues.

Summary

The product of this gene belongs to the CLC Chloride Channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes Chloride Channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]

CLCN7 Products(2)

mRNA	Protein	Name
NM_001114331.3	NP_001107803.1	H(+)/Cl(-) exchange transporter 7 isoform b
NM_001287.6	NP_001278.1	H(+)/Cl(-) exchange transporter 7 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in transepithelial chloride transport	IDA IDA: Inferred from direct assay	32851177	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of chloride channel complex	IPI IPI: Inferred from physical interaction	32851177	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	21527911	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

CLCN7 Protein Structure

Voltage_CLC

CBS

0
200
400
600
805 a.a.

Protein Preferred Names

Protein Names

H(+)/Cl(-) exchange transporter 7

chloride channel 7 alpha subunit

Related Diseases

Diseases

Alias

Osteopetrosis, Autosomal Dominant 2

OPTA2	Autosomal Dominant Osteopetrosis 2
Osteopetrosis Autosomal Dominant Type 2	Osteopetrosis, Autosomal Dominant, Type Ii
Albers-Schonberg Osteopetrosis	Autosomal Dominant Albers-Schonberg Disease
Osteopetrosis	Marble Bones, Autosomal Dominant
Osteosclerosis Fragilis Generalisata	Albers-Schonberg Disease, Autosomal Dominant
Autosomal Dominant Osteopetrosis Type Ii	Albers-Schönberg Osteopetrosis
Autosomal Dominant Osteopetrosis Type 2	Marble Disease Autosomal Dominant
Osteopetrosis, Autosomal Dominant, Type 2

Osteopetrosis, Autosomal Recessive 4

Autosomal Recessive Osteopetrosis 4	OPTB4
Infantile Malignant Osteopetrosis 2	Osteopetrosis, Infantile Malignant 2
Osteopetrosis, Autosomal Recessive, Type 4

Hypopigmentation, Organomegaly, And Delayed Myelination And Development

HOD	Hypertrophic Olivary Degeneration

Osteopetrosis

Marble Bone Disease	Albers-Schonberg Disease
Osteopetroses	Marble Bones
Osteopetrosis And Related Disorders	Congenital Osteopetrosis
Marble Bone	Albers-Schoenberg Disease
Albers-Schonberg Osteopetrosis	Osteosclerosis Fragilis
Ivory Bones

Autosomal Recessive Malignant Osteopetrosis

Infantile Malignant Osteopetrosis

Osteopetrosis, Autosomal Recessive 6

OPTB6	Autosomal Recessive Osteopetrosis 6
Autosomal Recessive Osteopetrosis Intermediate Form	Osteopetrosis, Autosomal Recessive, Intermediate Form
Osteopetrosis Autosomal Recessive 6	Autosomal Recessive Osteopetrosis Type 6
Osteopetrosis Autosomal Recessive Intermediate Form	Intermediate Osteopetrosis
Autosomal Recessive Intermediate Osteopetrosis	Osteopetrosis, Autosomal Recessive, Type 6

Endosteal Hyperostosis, Autosomal Dominant

Osteosclerosis	Worth Syndrome
Osteosclerosis, Autosomal Dominant	Hyperostosis, Endosteal
Endosteal Hyperostosis, Worth Type	Worth Disease
Autosomal Dominant Endosteal Hyperostosis	Autosomal Dominant Osteosclerosis, Worth Type
Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus	Autosomal Dominant Osteosclerosis
Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus	Worth'S Syndrome
Worth Type Autosomal Dominant Osteosclerosis	Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus
Osteosclerosis, Autosomal Dominant, Worth Type	WENHY
Endosteal Hyperostosis Autosomal Dominant	Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus
Osteosclerosis Autosomal Dominant	Acquired Osteosclerosis

Clcn7-Related Osteopetrosis

Osteopetrosis, Autosomal Recessive 2

OPTB2	Autosomal Recessive Osteopetrosis 2
Osteopetrosis, Mild Autosomal Recessive Form	Osteoclast-Poor Osteopetrosis
Osteopetrosis, Osteoclast-Poor	Mild Autosomal Recessive Form Osteopetrosis
Osteopetrosis Autosomal Recessive 2	Autosomal Recessive Osteopetrosis Type 2
Osteopetrosis Osteoclast-Poor	Osteopetrosis, Autosomal Recessive, Type 2

Osteopetrosis, Autosomal Recessive 5

OPTB5	Autosomal Recessive Osteopetrosis 5
Infantile Malignant Osteopetrosis 3	Osteopetrosis, Infantile Malignant 3
Osteopetrosis Autosomal Recessive 5	Osteopetrosis And Infantile Neuroaxonal Dystrophy
Autosomal Recessive Osteopetrosis Type 5	Osteopetrosis Infantile Malignant 3
Osteopetrosis, Autosomal Recessive, Type 5

Osteopetrosis, Autosomal Recessive 1

OPTB1	Autosomal Recessive Osteopetrosis 1
Autosomal Recessive Albers-Schonberg Disease	Infantile Malignant Osteopetrosis
Osteopetrosis, Infantile Malignant 1	Marble Bones, Autosomal Recessive
Albers-Schonberg Disease, Autosomal Recessive	Infantile Malignant Osteopetrosis 1
Osteopetrosis Autosomal Recessive 1	Autosomal Recessive Osteopetrosis Type 1
Marble Bones Autosomal Recessive	Osteopetrosis Infantile Malignant 1
Osteopetrosis, Autosomal Recessive, Type 1

Beach Ear

Acute Swimmer'S Ear	Acute Bacterial Inflammation Of External Ear
Acute Otitis Externa, Diffuse	Acute Swimmers' Ear
Tank Ear

Osteopetrosis, Autosomal Recessive 7

OPTB7	Autosomal Recessive Osteopetrosis 7
Autosomal Recessive Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia	Autosomal Recessive Osteopetrosis Type 7
Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia	Osteopetrosis-Hypogammaglobulinemia Syndrome
Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia	Osteopetrosis Autosomal Recessive 7
Osteopetrosis Osteoclast-Poor With Hypogammaglobulinemia	Osteopetrosis, Autosomal Recessive, Type 7

Pycnodysostosis

Pyknodysostosis	PKND
Pycd	Toulouse-Lautrec Syndrome

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis	Marble Brain Disease
OPTB3	Guibaud-Vainsel Syndrome
Carbonic Anhydrase Ii Deficiency	Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis
Autosomal Recessive Osteopetrosis 3	Carbonic Anhydrase 2 Deficiency
Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis	Osteopetrosis Autosomal Recessive 3
Autosomal Recessive Osteopetrosis Type 3	Guibaud Vainsel Syndrome
Mixed Rta	Mixed Renal Tubular Acidosis
Renal Tubular Acidosis Type 3	Carbonic Anhydrase Ii Deficiency Syndrome
Carbonic Anhydrase Ii Variant	Osteopetrosis, Autosomal Recessive, Type 3
Carbonic Anhydrase 2

Osteopetrosis, Autosomal Dominant 1

OPTA1	Autosomal Dominant Osteopetrosis 1
Autosomal Dominant Osteopetrosis Type 1	Osteopetrosis Autosomal Dominant Type 1
Osteopetrosis, Autosomal Dominant, Type I	Osteopetrosis, Autosomal Dominant, Type 1

Axial Osteomalacia

Atypical Osteomalacia Involving The Axial Skeleton

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

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

Nephrocalcinosis

Hypercalcemic Nephropathy

Bone Disease

Bone Diseases	Skeletal Disease
Skeletal Disorder	Disorder Of Skeletal System

Osteopetrosis, Autosomal Recessive 8

Autosomal Recessive Osteopetrosis 8	OPTB8
Osteopetrosis, Autosomal Recessive, Type 8

Dental Abscess

Leopard Syndrome 2

LPRD2	Noonan Syndrome With Multiple Lentigines 2
Leopard Syndrome, Type 2

Fibrogenesis Imperfecta Ossium

Baker'S Disease

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia	CMDD
Cmdj	Cmd
Autosomal Dominant Craniometaphyseal Dysplasia	Craniometaphyseal Dysplasia, Jackson Type
Craniometaphyseal Dysplasia Jackson Type	Autosomal Recessive Craniometaphyseal Dysplasia
Cmdr	Dysplasia, Craniometaphyseal, Autosomal Dominant
Craniometaphyseal Dysplasia, Autosomal Recessive Type

Multiple Cranial Nerve Palsy

Multiple Cranial Nerve Palsies

Melorheostosis

Candle Wax Disease	Flowing Hyperostosis
Hyperostosis, Monomelic	Leri Syndrome
Leri'S Disease	Melorheostoses
Melorheostosis Of Leri	Melorheostosis, Isolated
Periostitis	Monomelic
Rheostosis

Mucolipidosis Iv

Mucolipidosis Type Iv	ML4
Sialolipidosis	Mucolipidosis Type 4
Ganglioside Sialidase Deficiency	Mliv
Ml Iv	Berman Syndrome
Ganglioside Neuraminidase Deficiency	Ml 4
Mucolipidosis 4	Type Iv Mucolipidosis
Gangliosidoses

Bone Remodeling Disease

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

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

Mucolipidosis

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

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-RS02759	CLCN7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CLCN7	VGNC	VGNC:39307
Rattus norvegicus	CLCN7	RGD	RGD:61836
Bos taurus	CLCN7	VGNC	VGNC:27401
Felis catus	CLCN7	VGNC	VGNC:60929
Macaca mulatta	CLCN7	VGNC	VGNC:71241
Mus musculus	CLCN7	MGD	MGI:1347048