CLCN4 - chloride voltage-gated channel 4 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1183

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables antiporter activity IDA
IDA: Inferred from direct assay
28972156 GOA
enables antiporter activity IMP
IMP: Inferred from mutant phenotype
23647072 GOA
enables chloride channel activity IDA
IDA: Inferred from direct assay
10564087 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within chloride transport IDA
IDA: Inferred from direct assay
10564087 GOA
involved in chloride transport IMP
IMP: Inferred from mutant phenotype
23647072 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
17023393 GOA
located in endosome membrane IDA
IDA: Inferred from direct assay
28972156 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
28972156 GOA
located in recycling endosome IDA
IDA: Inferred from direct assay
28972156 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

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

CLCN4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CLCN4 P51793 ABHD5 Homo sapiens Q8WTS1
Y2H Prey Pooling
32296183
Intra
CLCN4 P51793 ABHD5 Homo sapiens Q8WTS1
Validated Y2H
32296183
Intra
CLCN4 P51793 ABHD5 Homo sapiens Q8WTS1
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02756 CLCN4 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others CLCN4 NCBI