Details for: SLC12A5
Associated with
Other Information
Genular Protein ID: 3783359992
Symbol: S12A5_HUMAN
Name: Solute carrier family 12 member 5
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12106695
Title: Molecular, functional, and genomic characterization of human KCC2, the neuronal K-Cl cotransporter.
PubMed ID: 12106695
PubMed ID: 11780052
Title: The DNA sequence and comparative analysis of human chromosome 20.
PubMed ID: 11780052
DOI: 10.1038/414865a
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: 16344560
Title: Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
PubMed ID: 16344560
DOI: 10.1101/gr.4039406
PubMed ID: 10574461
Title: Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
PubMed ID: 10574461
PubMed ID: 19665974
Title: Sites of regulated phosphorylation that control K-Cl cotransporter activity.
PubMed ID: 19665974
PubMed ID: 21613606
Title: Similar Effects of all WNK3 Variants upon SLC12 Cotransporters.
PubMed ID: 21613606
PubMed ID: 33199848
Title: Cryo-EM structures of the full-length human KCC2 and KCC3 cation-chloride cotransporters.
PubMed ID: 33199848
PubMed ID: 34267353
Title: Author Correction: Cryo-EM structures of the full-length human KCC2 and KCC3 cation-chloride cotransporters.
PubMed ID: 34267353
PubMed ID: 24668262
Title: A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
PubMed ID: 24668262
PubMed ID: 26333769
Title: Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
PubMed ID: 26333769
DOI: 10.1038/ncomms9038
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 24928908
Title: Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
PubMed ID: 24928908
PubMed ID: 26528127
Title: Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.
PubMed ID: 26528127
Sequence Information:
- Length: 1139
- Mass: 126184
- Checksum: 100C097AF1FD4B3E
- Sequence:
MSRRFTVTSL PPAGPARSPD PESRRHSVAD PRHLPGEDVK GDGNPKESSP FINSTDTEKG KEYDGKNMAL FEEEMDTSPM VSSLLSGLAN YTNLPQGSRE HEEAENNEGG KKKPVQAPRM GTFMGVYLPC LQNIFGVILF LRLTWVVGIA GIMESFCMVF ICCSCTMLTA ISMSAIATNG VVPAGGSYYM ISRSLGPEFG GAVGLCFYLG TTFAGAMYIL GTIEILLAYL FPAMAIFKAE DASGEAAAML NNMRVYGTCV LTCMATVVFV GVKYVNKFAL VFLGCVILSI LAIYAGVIKS AFDPPNFPIC LLGNRTLSRH GFDVCAKLAW EGNETVTTRL WGLFCSSRFL NATCDEYFTR NNVTEIQGIP GAASGLIKEN LWSSYLTKGV IVERSGMTSV GLADGTPIDM DHPYVFSDMT SYFTLLVGIY FPSVTGIMAG SNRSGDLRDA QKSIPTGTIL AIATTSAVYI SSVVLFGACI EGVVLRDKFG EAVNGNLVVG TLAWPSPWVI VIGSFFSTCG AGLQSLTGAP RLLQAISRDG IVPFLQVFGH GKANGEPTWA LLLTACICEI GILIASLDEV APILSMFFLM CYMFVNLACA VQTLLRTPNW RPRFRYYHWT LSFLGMSLCL ALMFICSWYY ALVAMLIAGL IYKYIEYRGA EKEWGDGIRG LSLSAARYAL LRLEEGPPHT KNWRPQLLVL VRVDQDQNVV HPQLLSLTSQ LKAGKGLTIV GSVLEGTFLE NHPQAQRAEE SIRRLMEAEK VKGFCQVVIS SNLRDGVSHL IQSGGLGGLQ HNTVLVGWPR NWRQKEDHQT WRNFIELVRE TTAGHLALLV TKNVSMFPGN PERFSEGSID VWWIVHDGGM LMLLPFLLRH HKVWRKCKMR IFTVAQMDDN SIQMKKDLTT FLYHLRITAE VEVVEMHESD ISAYTYEKTL VMEQRSQILK QMHLTKNERE REIQSITDES RGSIRRKNPA NTRLRLNVPE ETAGDSEEKP EEEVQLIHDQ SAPSCPSSSP SPGEEPEGEG ETDPEKVHLT WTKDKSVAEK NKGPSPVSSE GIKDFFSMKP EWENLNQSNV RRMHTAVRLN EVIVKKSRDA KLVLLNMPGP PRNRNGDENY MEFLEVLTEH LDRVMLVRGG GREVITIYS
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.