2. Gene
  3. CLCN4 - chloride voltage-gated channel 4 Gene

CLCN4 - chloride voltage-gated channel 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CLC4; ClC-4; MRX15; MRX49; ClC-4A; MRXSRC

Gene ID: 1183 | Gene type: protein coding

About CLCN4

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:10,156,975-10,237,660 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues, 8 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 20.8), heart (RPKM 5.1) and 10 other tissues.

Summary

The CLCN family of voltage-dependent Chloride Channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride Channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of Chloride Channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]

CLCN4 Products(2)

mRNA Protein Name
NM_001256944.2 NP_001243873.1 H(+)/Cl(-) exchange transporter 4 isoform 2
NM_001830.4 NP_001821.2 H(+)/Cl(-) exchange transporter 4 isoform 1

CLCN4 Protein Structure

Voltage_CLC

Voltage_CLC: Voltage gated chloride channel (163 - 564)

CBS

CBS: CBS domain (597 - 659)

CBS

CBS: CBS domain (694 - 746)

  • 0
  • 200
  • 400
  • 600
  • 760 a.a.
Protein Preferred Names Protein Names

H(+)/Cl(-) exchange transporter 4

chloride channel 4

Related Diseases

Diseases Alias
Raynaud-Claes Syndrome

Mrx49

MRXSRC

Mental Retardation, X-Linked 49

Mrx15

Clcn4-Related X-Linked Intellectual Disability Syndrome

Mental Retardation, X-Linked 15

X-Linked Mental Retardation 15

X-Linked Mental Retardation 49

Mental Retardation, X-Linked-49
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Ocular Albinism

Albinism, Ocular

Oa

Xloa

Albinism Ocular
Acute Dacryocystitis

Dacryocystitis - Acute
Intestinal Impaction
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
Acute Inflammation Of Lacrimal Passage
Dacryocystitis

Nasolacrimal Sac Infection
Neurodevelopmental Disorder With Involuntary Movements

NEDIM
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
N Syndrome

NSX

Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia
Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder
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
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
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-RS02756 CLCN4 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus CLCN4 MGD MGI:104571
Bos taurus CLCN4 VGNC VGNC:27398
Canis familiaris CLCN4 VGNC VGNC:39304
Felis catus CLCN4 VGNC VGNC:60926
Macaca mulatta CLCN4 VGNC VGNC:71237
Rattus norvegicus CLCN4 RGD RGD:708381