CLCN7 - chloride voltage-gated channel 7 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1186

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	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

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

Cellular Component GO Annotation	Evidence	Verweise	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

CLCN7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	CLCN7	P51798	SLC38A7	Homo sapiens	Q9NVC3	Y2H Array	32296183
Intra	CLCN7	P51798	SLC38A7	Homo sapiens	Q9NVC3	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	SLC38A7	Homo sapiens	Q9NVC3	Validated Y2H	32296183
Intra	CLCN7	P51798	LYVE1	Homo sapiens	Q9Y5Y7	Y2H Array	32296183
Intra	CLCN7	P51798	LYVE1	Homo sapiens	Q9Y5Y7	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	LYVE1	Homo sapiens	Q9Y5Y7	Validated Y2H	32296183
Intra	CLCN7	P51798	AQP7	Homo sapiens	Q6P5T0	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	AQP7	Homo sapiens	Q6P5T0	Validated Y2H	32296183
Intra	CLCN7	P51798	AQP7	Homo sapiens	Q6P5T0	Y2H Array	32296183
Intra	CLCN7	P51798	OSTM1	Homo sapiens	Q86WC4	Anti Tag CoIP	35271311
Intra	CLCN7	P51798	GDAP1	Homo sapiens	Q8TB36	Y2H Array	32296183
Intra	CLCN7	P51798	GDAP1	Homo sapiens	Q8TB36	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	GDAP1	Homo sapiens	Q8TB36	Validated Y2H	32296183
Intra	CLCN7	P51798	TMEM179B	Homo sapiens	Q7Z7N9	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	TMEM179B	Homo sapiens	Q7Z7N9	Y2H Array	32296183
Intra	CLCN7	P51798	TMEM179B	Homo sapiens	Q7Z7N9	Validated Y2H	32296183
Intra	CLCN7	P51798	OPRM1	Homo sapiens	P35372-10	Y2H Array	32296183
Intra	CLCN7	P51798	OPRM1	Homo sapiens	P35372-10	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	TLCD4	Homo sapiens	Q96MV1	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	TLCD4	Homo sapiens	Q96MV1	Validated Y2H	32296183
Intra	CLCN7	P51798	TLCD4	Homo sapiens	Q96MV1	Y2H Array	32296183
Intra	CLCN7	P51798	KCNN3	Homo sapiens	Q9UGI6-2	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	KCNN3	Homo sapiens	Q9UGI6-2	Y2H Array	32296183
Intra	CLCN7	P51798	KCNN3	Homo sapiens	Q9UGI6-2	Validated Y2H	32296183
Intra	CLCN7	P51798	GET1	Homo sapiens	O00258	Y2H Array	32296183
Intra	CLCN7	P51798	GET1	Homo sapiens	O00258	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	GLE1	Homo sapiens	Q53GS7	Validated Y2H	32814053
Intra	CLCN7	P51798	GLE1	Homo sapiens	Q53GS7	Y2H Pooling	32814053
Intra	CLCN7	P51798	GLE1	Homo sapiens	Q53GS7	Y2H Array	32814053
Intra	CLCN7	P51798	LHFPL5	Homo sapiens	Q8TAF8	Validated Y2H	32296183
Intra	CLCN7	P51798	LHFPL5	Homo sapiens	Q8TAF8	Y2H Array	32296183
Intra	CLCN7	P51798	LHFPL5	Homo sapiens	Q8TAF8	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	SLC66A2	Homo sapiens	Q8N2U9	Validated Y2H	32296183
Intra	CLCN7	P51798	SLC66A2	Homo sapiens	Q8N2U9	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	SLC66A2	Homo sapiens	Q8N2U9	Y2H Array	32296183
Intra	CLCN7	P51798	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	CLCN7	P51798	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	CLCN7	P51798	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	CLCN7	P51798	CD53	Homo sapiens	P19397	Y2H Prey Pooling	32296183
Intra	CLCN7	P51798	CD53	Homo sapiens	P19397	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS02759	CLCN7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20884	Clcn7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27401	Clcn7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CLCN7	NCBI