• Gene id: 1183

Gene Summary

• Gene Symbol: CLCN4   Gene   UCSC   Ensembl
• Aliases: CLC4, ClC-4, ClC-4A, MRX15, MRX49, MRXSRC
• Gene name: chloride voltage-gated channel 4
• Alternate names: H(+)/Cl(-) exchange transporter 4, chloride channel 4, chloride channel protein 4, chloride channel, voltage-sensitive 4, chloride transporter ClC-4,
• Gene location: Xp22.2 (10156944: 10237659)     Exons: 13     NC_000023.11
• Gene summary(Entrez): 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 conserve
• OMIM: 159350

Protein Summary

• Protein general information: P51793  
  • Name: H(+)/Cl( ) exchange transporter 4 (Chloride channel protein 4) (ClC 4) (Chloride transporter ClC 4)
  • Length: 760  
  • Mass: 84917
  • Tissue specificity: Abundant in skeletal muscle and also detectable in brain and heart.
• Sequence:

  MVNAGAMSGSGNLMDFLDEPFPDVGTYEDFHTIDWLREKSRDTDRHRKITSKSKESIWEFIKSLLDAWSGWVVML
  LIGLLAGTLAGVIDLAVDWMTDLKEGVCLSAFWYSHEQCCWTSNETTFEDRDKCPLWQKWSELLVNQSEGASAYI
  LNYLMYILWALLFAFLAVSLVRVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLLIKTVTLVLVVSSGLSLGKEG
  PLVHVACCCGNFFSSLFSKYSKNEGKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALV
  AAFTLRSINPFGNSRLVLFYVEYHTPWYMAELFPFILLGVFGGLWGTLFIRCNIAWCRRRKTTRLGKYPVLEVIV
  VTAITAIIAYPNPYTRQSTSELISELFNDCGALESSQLCDYINDPNMTRPVDDIPDRPAGVGVYTAMWQLALALI
  FKIVVTIFTFGMKIPSGLFIPSMAVGAIAGRMVGIGVEQLAYHHHDWIIFRNWCRPGADCVTPGLYAMVGAAACL
  GGVTRMTVSLVVIMFELTGGLEYIVPLMAAAVTSKWVADAFGKEGIYEAHIHLNGYPFLDVKDEFTHRTLATDVM
  RPRRGEPPLSVLTQDSMTVEDVETLIKETDYNGFPVVVSRDSERLIGFAQRRELILAIKNARQRQEGIVSNSIMY
  FTEEPPELPANSPHPLKLRRILNLSPFTVTDHTPMETVVDIFRKLGLRQCLVTRSGRLLGIITKKDVLRHMAQMA
  NQDPESIMFN

• Structural information:
  • Protein Domains: (600..66-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (697..75-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703"-)
  • Interpro: IPR000644  IPR014743  IPR001807  IPR002246  
  • Prosite: PS51371
  • STRING: ENSP00000370213
• Other Databases: GeneCards:  CLCN4  Malacards:  CLCN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005247	voltage-gated chloride channel activity	IBA	molecular function
GO:0005769	early endosome	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0031404	chloride ion binding	IBA	molecular function
GO:0005768	endosome	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0015299	solute:proton antiporter activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0015297	antiporter activity	IDA	molecular function
GO:0055037	recycling endosome	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0015297	antiporter activity	IMP	molecular function
GO:0006821	chloride transport	IMP	biological process
GO:0006821	chloride transport	IMP	biological process
GO:0015297	antiporter activity	IMP	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0005247	voltage-gated chloride channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0015297	antiporter activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005247	voltage-gated chloride channel activity	TAS	molecular function
GO:0006821	chloride transport	IDA	biological process
GO:0005254	chloride channel activity	IDA	molecular function
GO:0010008	endosome membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq