Format

Send to:

Choose Destination

CLCN4 chloride voltage-gated channel 4 [ Homo sapiens (human) ]

Gene ID: 1183, updated on 22-Jun-2019

Summary

Official Symbol
CLCN4provided by HGNC
Official Full Name
chloride voltage-gated channel 4provided by HGNC
Primary source
HGNC:HGNC:2022
See related
Ensembl:ENSG00000073464 MIM:302910
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLC4; ClC-4; MRX15; MRX49; ClC-4A; MRXSRC
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]
Expression
Biased expression in brain (RPKM 20.8), heart (RPKM 5.1) and 10 other tissues See more
Orthologs

Genomic context

See CLCN4 in Genome Data Viewer
Location:
Xp22.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (10156945..10237660)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (10124985..10205700)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene claudin 34 Neighboring gene WWC family member 3 Neighboring gene midline 1 Neighboring gene MID1 promoter D Neighboring gene RNA, U6 small nuclear 800, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation 49, X-linked
MedGen: C0796221 OMIM: 300114 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-09-26)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2018-09-26)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

General gene information

Markers

Homology

Clone Names

  • MGC163150

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
antiporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
chloride ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
solute:proton antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
chloride transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
H(+)/Cl(-) exchange transporter 4
Names
chloride channel 4
chloride channel protein 4
chloride channel, voltage-sensitive 4
chloride transporter ClC-4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012496.1 RefSeqGene

    Range
    5001..85716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256944.1NP_001243873.1  H(+)/Cl(-) exchange transporter 4 isoform 2

    See identical proteins and their annotated locations for NP_001243873.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC003666, AK299611, BP310547
    Consensus CDS
    CCDS59159.1
    UniProtKB/Swiss-Prot
    P51793
    Related
    ENSP00000405754.2, ENST00000421085.6
    Conserved Domains (2) summary
    cd03684
    Location:42490
    ClC_3_like; ClC-3-like chloride channel proteins. This CD includes ClC-3, ClC-4, ClC-5 and ClC-Y1. ClC-3 was initially cloned from rat kidney. Expression of ClC-3 produces outwardly-rectifying Cl currents that are inhibited by protein kinase C activation. It has ...
    cd04591
    Location:513651
    CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
  2. NM_001830.4NP_001821.2  H(+)/Cl(-) exchange transporter 4 isoform 1

    See identical proteins and their annotated locations for NP_001821.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB019432, AC003666, BP310547
    Consensus CDS
    CCDS14137.1
    UniProtKB/Swiss-Prot
    P51793
    Related
    ENSP00000370213.4, ENST00000380833.9
    Conserved Domains (2) summary
    cd03684
    Location:78584
    ClC_3_like; ClC-3-like chloride channel proteins. This CD includes ClC-3, ClC-4, ClC-5 and ClC-Y1. ClC-3 was initially cloned from rat kidney. Expression of ClC-3 produces outwardly-rectifying Cl currents that are inhibited by protein kinase C activation. It has ...
    cd04591
    Location:607745
    CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    10156945..10237660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center