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Aliases for CLCN4 Gene

Aliases for CLCN4 Gene

  • Chloride Voltage-Gated Channel 4 2 3
  • Chloride Channel, Voltage-Sensitive 4 2 3 5
  • Chloride Channel Protein 4 3 4
  • Chloride Transporter ClC-4 3 4
  • Chloride Channel 4 2 3
  • ClC-4 3 4
  • ClC-4A 3
  • CLC4 3

External Ids for CLCN4 Gene

Previous GeneCards Identifiers for CLCN4 Gene

  • GC0XP009154
  • GC0XP008940
  • GC0XP009471
  • GC0XP009536
  • GC0XP009934
  • GC0XP007954

Summaries for CLCN4 Gene

Entrez Gene Summary for CLCN4 Gene

  • 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]

GeneCards Summary for CLCN4 Gene

CLCN4 (Chloride Voltage-Gated Channel 4) is a Protein Coding gene. Diseases associated with CLCN4 include ocular albinism and dent disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Hepatic ABC Transporters. GO annotations related to this gene include ion channel activity and antiporter activity. An important paralog of this gene is CLCN7.

UniProtKB/Swiss-Prot for CLCN4 Gene

  • Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons.

Gene Wiki entry for CLCN4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLCN4 Gene

Genomics for CLCN4 Gene

Regulatory Elements for CLCN4 Gene

Promoters for CLCN4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLCN4 on UCSC Golden Path with GeneCards custom track

Genomic Location for CLCN4 Gene

Chromosome:
X
Start:
10,156,945 bp from pter
End:
10,237,660 bp from pter
Size:
80,716 bases
Orientation:
Plus strand

Genomic View for CLCN4 Gene

Genes around CLCN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLCN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLCN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLCN4 Gene

Proteins for CLCN4 Gene

  • Protein details for CLCN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51793-CLCN4_HUMAN
    Recommended name:
    H(+)/Cl(-) exchange transporter 4
    Protein Accession:
    P51793
    Secondary Accessions:
    • A1L3U1
    • B7Z5Z4
    • Q9UBU1

    Protein attributes for CLCN4 Gene

    Size:
    760 amino acids
    Molecular mass:
    84917 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters.

    Alternative splice isoforms for CLCN4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLCN4 Gene

Proteomics data for CLCN4 Gene at MOPED

Post-translational modifications for CLCN4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLCN4 Gene

Antibody Products

No data available for DME Specific Peptides for CLCN4 Gene

Domains & Families for CLCN4 Gene

Gene Families for CLCN4 Gene

Graphical View of Domain Structure for InterPro Entry

P51793

UniProtKB/Swiss-Prot:

CLCN4_HUMAN :
  • Contains 2 CBS domains.
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-4/CLCN4 subfamily.
Domain:
  • Contains 2 CBS domains.
Family:
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-4/CLCN4 subfamily.
genes like me logo Genes that share domains with CLCN4: view

Function for CLCN4 Gene

Molecular function for CLCN4 Gene

GENATLAS Biochemistry:
chloride voltage-gated channel 4,brain and heart
UniProtKB/Swiss-Prot Function:
Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons.
genes like me logo Genes that share phenotypes with CLCN4: view

Animal Models for CLCN4 Gene

MGI Knock Outs for CLCN4:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CLCN4 Gene

Localization for CLCN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCN4 Gene

Early endosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLCN4 Gene COMPARTMENTS Subcellular localization image for CLCN4 gene
Compartment Confidence
endosome 5
plasma membrane 4
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CLCN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031901 early endosome membrane IEA --
GO:0031902 late endosome membrane IEA --
genes like me logo Genes that share ontologies with CLCN4: view

Pathways & Interactions for CLCN4 Gene

genes like me logo Genes that share pathways with CLCN4: view

Gene Ontology (GO) - Biological Process for CLCN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8069296
GO:0034220 ion transmembrane transport TAS --
GO:1903959 regulation of anion transmembrane transport TAS 8069296
genes like me logo Genes that share ontologies with CLCN4: view

No data available for SIGNOR curated interactions for CLCN4 Gene

Drugs & Compounds for CLCN4 Gene

(2) Drugs for CLCN4 Gene - From: IUPHAR and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cd<sup>2+</sup> Pharma Channel blocker 0
Zn<sup>2+</sup> Pharma Positive, Allosteric regulator 0

(4) Additional Compounds for CLCN4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with CLCN4: view

Transcripts for CLCN4 Gene

Unigene Clusters for CLCN4 Gene

Chloride channel, voltage-sensitive 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLCN4 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: - -
SP3: - - - -
SP4: - - -
SP5:

Relevant External Links for CLCN4 Gene

GeneLoc Exon Structure for
CLCN4
ECgene alternative splicing isoforms for
CLCN4

Expression for CLCN4 Gene

mRNA expression in normal human tissues for CLCN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLCN4 Gene

This gene is overexpressed in Muscle - Skeletal (x6.6) and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for CLCN4 Gene

This gene is overexpressed in Frontal cortex (36.5) and Retina (32.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CLCN4 Gene



SOURCE GeneReport for Unigene cluster for CLCN4 Gene Hs.495674

mRNA Expression by UniProt/SwissProt for CLCN4 Gene

P51793-CLCN4_HUMAN
Tissue specificity: Abundant in skeletal muscle and also detectable in brain and heart.
genes like me logo Genes that share expression patterns with CLCN4: view

Protein tissue co-expression partners for CLCN4 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CLCN4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CLCN4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLCN4 35
  • 90.22 (n)
  • 97.76 (a)
CLCN4 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLCN4 35
  • 91.45 (n)
  • 99.21 (a)
CLCN4 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clcn4-2 35
  • 88.26 (n)
  • 98.53 (a)
Clcn4 16
Clcn4-2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clcn4 35
  • 87.93 (n)
  • 99.07 (a)
oppossum
(Monodelphis domestica)
Mammalia CLCN4 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLCN4 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLCN4 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLCN4 35
  • 81.27 (n)
  • 97.24 (a)
CLCN4 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 23 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia clcn4 35
  • 78.64 (n)
  • 94.74 (a)
Str.12434 35
zebrafish
(Danio rerio)
Actinopterygii clcn4 35
  • 78.18 (n)
  • 90.31 (a)
Dr.7965 35
clcn4 36
  • 89 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.174 35
fruit fly
(Drosophila melanogaster)
Insecta CG5284 37
  • 57 (a)
ClC-c 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea clh-5 36
  • 52 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GEF1 36
  • 30 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06444 35
  • 52.05 (n)
  • 44.71 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for CLCN4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CLCN4 Gene

ENSEMBL:
Gene Tree for CLCN4 (if available)
TreeFam:
Gene Tree for CLCN4 (if available)

Paralogs for CLCN4 Gene

Paralogs for CLCN4 Gene

(2) SIMAP similar genes for CLCN4 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CLCN4: view

Variants for CLCN4 Gene

Sequence variations from dbSNP and Humsavar for CLCN4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs3833 -- 10,237,541(-) AACAC(G/T)TTGCT utr-variant-3-prime
rs10610 -- 10,233,636(+) AAAAA(A/G)AAATA utr-variant-3-prime
rs756826 -- 10,173,460(+) GGTTC(C/G)GCTGC intron-variant
rs1061191 -- 10,234,708(-) CATTA(A/C)AACTG utr-variant-3-prime
rs1061287 -- 10,158,391(+) TCCCC(C/T)CACCC utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CLCN4 Gene

Variant ID Type Subtype PubMed ID
dgv2438e1 CNV Complex 17122850
nsv519068 CNV Gain 19592680
nsv6795 CNV Insertion 18451855

Variation tolerance for CLCN4 Gene

Residual Variation Intolerance Score: 4.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLCN4 Gene

HapMap Linkage Disequilibrium report
CLCN4
Human Gene Mutation Database (HGMD)
CLCN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCN4 Gene

Disorders for CLCN4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CLCN4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ocular albinism
  • xloa
dent disease
  • dent disease 2
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search CLCN4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CLCN4

Genetic Association Database (GAD)
CLCN4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLCN4
genes like me logo Genes that share disorders with CLCN4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLCN4 Gene

Publications for CLCN4 Gene

  1. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. (PMID: 8069296) van Slegtenhorst M.A. … Ballabio A. (Hum. Mol. Genet. 1994) 2 3 4 23 67
  2. Gene trapping identifies chloride channel 4 as a novel inducer of colon cancer cell migration, invasion and metastases. (PMID: 20087350) Ishiguro T. … Boyd D.D. (Br. J. Cancer 2010) 3 23
  3. Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. (PMID: 19546591) Wu F. … Thakker R.V. (Nephron Physiol 2009) 3 23
  4. Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. (PMID: 16034421) Picollo A. … Pusch M. (Nature 2005) 3 23
  5. Identification and functional characterization of a voltage-gated chloride channel and its novel splice variant in taste bud cells. (PMID: 16129671) Huang L. … Brand J.G. (J. Biol. Chem. 2005) 3 23

Products for CLCN4 Gene

Sources for CLCN4 Gene

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