Details for: CLCN4
Associated with
Other Information
Genular Protein ID: 1632650736
Symbol: CLCN4_HUMAN
Name: H(+)/Cl(-) exchange transporter 4
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8069296
Title: A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.
PubMed ID: 8069296
DOI: 10.1093/hmg/3.4.547
PubMed ID: 10564087
Title: Identification of an acid-activated Cl- channel from human skeletal muscles.
PubMed ID: 10564087
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15772651
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17023393
Title: The human ClC-4 protein, a member of the CLC chloride channel/transporter family, is localized to the endoplasmic reticulum by its N-terminus.
PubMed ID: 17023393
PubMed ID: 18063579
Title: Determinants of anion-proton coupling in mammalian endosomal CLC proteins.
PubMed ID: 18063579
PubMed ID: 28972156
Title: Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments.
PubMed ID: 28972156
PubMed ID: 29845874
Title: CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease.
PubMed ID: 29845874
PubMed ID: 23647072
Title: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
PubMed ID: 23647072
DOI: 10.1111/epi.12201
PubMed ID: 26034137
Title: Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.
PubMed ID: 26034137
DOI: 10.1093/hmg/ddv196
PubMed ID: 27550844
Title: De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
PubMed ID: 27550844
DOI: 10.1038/mp.2016.135
PubMed ID: 25644381
Title: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
PubMed ID: 25644381
DOI: 10.1038/mp.2014.193
Sequence Information:
- Length: 760
- Mass: 84917
- Checksum: 3A5A25D1FEF3F217
- Sequence:
MVNAGAMSGS GNLMDFLDEP FPDVGTYEDF HTIDWLREKS RDTDRHRKIT SKSKESIWEF IKSLLDAWSG WVVMLLIGLL AGTLAGVIDL AVDWMTDLKE GVCLSAFWYS HEQCCWTSNE TTFEDRDKCP LWQKWSELLV NQSEGASAYI LNYLMYILWA LLFAFLAVSL VRVFAPYACG SGIPEIKTIL SGFIIRGYLG KWTLLIKTVT LVLVVSSGLS LGKEGPLVHV ACCCGNFFSS LFSKYSKNEG KRREVLSAAA AAGVSVAFGA PIGGVLFSLE EVSYYFPLKT LWRSFFAALV AAFTLRSINP FGNSRLVLFY VEYHTPWYMA ELFPFILLGV FGGLWGTLFI RCNIAWCRRR KTTRLGKYPV LEVIVVTAIT AIIAYPNPYT RQSTSELISE LFNDCGALES SQLCDYINDP NMTRPVDDIP DRPAGVGVYT AMWQLALALI FKIVVTIFTF GMKIPSGLFI PSMAVGAIAG RMVGIGVEQL AYHHHDWIIF RNWCRPGADC VTPGLYAMVG AAACLGGVTR MTVSLVVIMF ELTGGLEYIV PLMAAAVTSK WVADAFGKEG IYEAHIHLNG YPFLDVKDEF THRTLATDVM RPRRGEPPLS VLTQDSMTVE DVETLIKETD YNGFPVVVSR DSERLIGFAQ RRELILAIKN ARQRQEGIVS NSIMYFTEEP PELPANSPHP LKLRRILNLS PFTVTDHTPM ETVVDIFRKL GLRQCLVTRS GRLLGIITKK DVLRHMAQMA NQDPESIMFN
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.