TRANSPORTERS FROM HUMANS:
Transporter Information: | |
Name: | potassium inwardly-rectifying channel, subfamily J, member 6 |
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Symbol: | KCNJ6 |
TC: | 1.A.2.1.3 |
Locations: | 21q22.1 |
Aliases: | GIRK2, KATP2, BIR1, Kir3.2 |
Swiss-Prot: | P48051 |
Accession Number: | NM_002240 |
GDB | GDB:547949 |
LocusLink | 3763 |
OMIM | 600877 |
PubMed (7796919): | Sakura H, Bond C, Warren-Perry M, Horsley S, Kearney L, Tucker S, Adelman J,Turner R, Ashcroft FM. Characterization and variation of a human inwardly-rectifying-K-channel gene(KCNJ6): a putative ATP-sensitive K-channel subunit.FEBS Lett. 1995 Jun 26;367(2):193-7. PMID: 7796919 [PubMed - indexed for MEDLINE] The ATP-sensitive K-channel plays a central role in insulin release from pancreatic beta-cells. We report here the cloning of the gene (KCNJ6) encoding a putative subunit of a human ATP-sensitive K-channel expressed in brain and beta-cells, and characterisation of its exon-intron structure. Screening of a somatic cell mapping panel and fluorescent in situ hybridization place the gene on chromosome 21 (21q22.1-22.2). Analysis of single-stranded conformational polymorphisms revealed the presence of two silent polymorphisms (Pro-149: CCG-CCA and Asp-328: GAC-GAT) with similar frequencies in normal and non-insulin-dependent diabetic patients. |
>sp|P48051|IRK6_HUMAN G protein-activated inward rectifier potassium channel 2 OS=Homo sapiens GN=KCNJ6 PE=1 SV=1 MAKLTESMTNVLEGDSMDQDVESPVAIHQPKLPKQARDDLPRHISRDRTKRKIQRYVRKDGKCNVHHGNVRETYRYLTDI FTTLVDLKWRFNLLIFVMVYTVTWLFFGMIWWLIAYIRGDMDHIEDPSWTPCVTNLNGFVSAFLFSIETETTIGYGYRVI TDKCPEGIILLLIQSVLGSIVNAFMVGCMFVKISQPKKRAETLVFSTHAVISMRDGKLCLMFRVGDLRNSHIVEASIRAK LIKSKQTSEGEFIPLNQTDINVGYYTGDDRLFLVSPLIISHEINQQSPFWEISKAQLPKEELEIVVILEGMVEATGMTCQ ARSSYITSEILWGYRFTPVLTLEDGFYEVDYNSFHETYETSTPSLSAKELAELASRAELPLSWSVSSKLNQHAELETEEE EKNLEEQTERNGDVANLENESKV |