LOCUS       NM_170741               3986 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 16 (KCNJ16), transcript variant 2, mRNA.
ACCESSION   NM_170741 XM_006721884
VERSION     NM_170741.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3986)
  AUTHORS   Guo,Y., Gao,Y. and Liu,S.
  TITLE     lncRNA XIST is associated with preeclampsia and mediates
            trophoblast cell invasion via miR-340-5p/KCNJ16 signaling pathway
  JOURNAL   Transpl Immunol 74, 101666 (2022)
   PUBMED   35809813
  REMARK    GeneRIF: lncRNA XIST is associated with preeclampsia and mediates
            trophoblast cell invasion via miR-340-5p/KCNJ16 signaling pathway.
REFERENCE   2  (bases 1 to 3986)
  AUTHORS   Staruschenko,A., Hodges,M.R. and Palygin,O.
  TITLE     Kir5.1 channels: potential role in epilepsy and seizure disorders
  JOURNAL   Am J Physiol Cell Physiol 323 (3), C706-C717 (2022)
   PUBMED   35848616
  REMARK    GeneRIF: Kir5.1 channels: potential role in epilepsy and seizure
            disorders.
            Review article
REFERENCE   3  (bases 1 to 3986)
  AUTHORS   Schlingmann,K.P., Renigunta,A., Hoorn,E.J., Forst,A.L.,
            Renigunta,V., Atanasov,V., Mahendran,S., Barakat,T.S., Gillion,V.,
            Godefroid,N., Brooks,A.S., Lugtenberg,D., Lake,J., Debaix,H.,
            Rudin,C., Knebelmann,B., Tellier,S., Rousset-Rouviere,C.,
            Viering,D., de Baaij,J.H.F., Weber,S., Palygin,O., Staruschenko,A.,
            Kleta,R., Houillier,P., Bockenhauer,D., Devuyst,O.,
            Vargas-Poussou,R., Warth,R., Zdebik,A.A. and Konrad,M.
  TITLE     Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt
            Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural
            Deafness
  JOURNAL   J Am Soc Nephrol 32 (6), 1498-1512 (2021)
   PUBMED   33811157
  REMARK    GeneRIF: Defects in KCNJ16 Cause a Novel Tubulopathy with
            Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and
            Sensorineural Deafness.
REFERENCE   4  (bases 1 to 3986)
  AUTHORS   Kompatscher,A., de Baaij,J.H.F., Aboudehen,K., Hoefnagels,A.P.W.M.,
            Igarashi,P., Bindels,R.J.M., Veenstra,G.J.C. and Hoenderop,J.G.J.
  TITLE     Loss of transcriptional activation of the potassium channel Kir5.1
            by HNF1beta drives autosomal dominant tubulointerstitial kidney
            disease
  JOURNAL   Kidney Int 92 (5), 1145-1156 (2017)
   PUBMED   28577853
  REMARK    GeneRIF: HNF1beta is a transcriptional activator of Kcnj16. Hence,
            patients with HNF1beta mutations may have reduced Kir5.1 activity
            in the kidney, resulting in hypokalemia and hypomagnesemia.
REFERENCE   5  (bases 1 to 3986)
  AUTHORS   Konstas,A.A., Korbmacher,C. and Tucker,S.J.
  TITLE     Identification of domains that control the heteromeric assembly of
            Kir5.1/Kir4.0 potassium channels
  JOURNAL   Am J Physiol Cell Physiol 284 (4), C910-C917 (2003)
   PUBMED   12456399
REFERENCE   6  (bases 1 to 3986)
  AUTHORS   Tanemoto,M., Fujita,A., Higashi,K. and Kurachi,Y.
  TITLE     PSD-95 mediates formation of a functional homomeric Kir5.1 channel
            in the brain
  JOURNAL   Neuron 34 (3), 387-397 (2002)
   PUBMED   11988170
REFERENCE   7  (bases 1 to 3986)
  AUTHORS   Pessia,M., Imbrici,P., D'Adamo,M.C., Salvatore,L. and Tucker,S.J.
  TITLE     Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels
            and their modulation by heteropolymerisation with Kir5.1
  JOURNAL   J Physiol 532 (Pt 2), 359-367 (2001)
   PUBMED   11306656
REFERENCE   8  (bases 1 to 3986)
  AUTHORS   Derst,C., Karschin,C., Wischmeyer,E., Hirsch,J.R.,
            Preisig-Muller,R., Rajan,S., Engel,H., Grzeschik,K., Daut,J. and
            Karschin,A.
  TITLE     Genetic and functional linkage of Kir5.1 and Kir2.1 channel
            subunits
  JOURNAL   FEBS Lett 491 (3), 305-311 (2001)
   PUBMED   11240146
REFERENCE   9  (bases 1 to 3986)
  AUTHORS   Liu,Y., McKenna,E., Figueroa,D.J., Blevins,R., Austin,C.P.,
            Bennett,P.B. and Swanson,R.
  TITLE     The human inward rectifier K(+) channel subunit kir5.1 (KCNJ16)
            maps to chromosome 17q25 and is expressed in kidney and pancreas
  JOURNAL   Cytogenet Cell Genet 90 (1-2), 60-63 (2000)
   PUBMED   11060447
REFERENCE   10 (bases 1 to 3986)
  AUTHORS   Pearson,W.L., Dourado,M., Schreiber,M., Salkoff,L. and Nichols,C.G.
  TITLE     Expression of a functional Kir4 family inward rectifier K+ channel
            from a gene cloned from mouse liver
  JOURNAL   J Physiol 514 (Pt 3) (Pt 3), 639-653 (1999)
   PUBMED   9882736
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005208.1 and KF459700.1.
            
            On Mar 28, 2020 this sequence version replaced NM_170741.3.
            
            Summary: Potassium channels are present in most mammalian cells,
            where they participate in a wide range of physiologic responses.
            The protein encoded by this gene is an integral membrane protein
            and inward-rectifier type potassium channel. The encoded protein,
            which tends to allow potassium to flow into rather than out of a
            cell, can form heterodimers with two other inward-rectifier type
            potassium channels. It may function in fluid and pH balance
            regulation. Alternatively spliced transcript variants have been
            found for this gene. [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1-8 all encode the same isoform (b).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.2340274.1, AK290799.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000392671.6/
                                                ENSP00000376439.1
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-166               AC005208.1         50421-50586
            167-275             KF459700.1         82-190
            276-372             AC005208.1         106075-106171
            373-3986            AC005208.1         107191-110804
FEATURES             Location/Qualifiers
     source          1..3986
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.3"
     gene            1..3986
                     /gene="KCNJ16"
                     /gene_synonym="BIR9; HKTD; KIR5.1"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 16"
                     /db_xref="GeneID:3773"
                     /db_xref="HGNC:HGNC:6262"
                     /db_xref="MIM:605722"
     exon            1..166
                     /gene="KCNJ16"
                     /gene_synonym="BIR9; HKTD; KIR5.1"
                     /inference="alignment:Splign:2.1.0"
     exon            167..275
                     /gene="KCNJ16"
                     /gene_synonym="BIR9; HKTD; KIR5.1"
                     /inference="alignment:Splign:2.1.0"
     exon            276..372
                     /gene="KCNJ16"
                     /gene_synonym="BIR9; HKTD; KIR5.1"
                     /inference="alignment:Splign:2.1.0"
     exon            373..3986
                     /gene="KCNJ16"
                     /gene_synonym="BIR9; HKTD; KIR5.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             466..1722
                     /gene="KCNJ16"
                     /gene_synonym="BIR9; HKTD; KIR5.1"
                     /note="isoform b is encoded by transcript variant 2;
                     inward rectifier K+ channel KIR5.1; inward rectifier
                     potassium channel 16; inward rectifier K(+) channel
                     Kir5.1; potassium channel, inwardly rectifying subfamily J
                     member 16; potassium voltage-gated channel subfamily J
                     member 16"
                     /codon_start=1
                     /product="inward rectifier potassium channel 16 isoform b"
                     /protein_id="NP_733937.3"
                     /db_xref="CCDS:CCDS11687.1"
                     /db_xref="GeneID:3773"
                     /db_xref="HGNC:HGNC:6262"
                     /db_xref="MIM:605722"
                     /translation="MSYYGSSYHIINADAKYPGYPPEHIIAEKRRARRRLLHKDGSCN
                     VYFKHIFGEWGSYVVDIFTTLVDTKWRHMFVIFSLSYILSWLIFGSVFWLIAFHHGDL
                     LNDPDITPCVDNVHSFTGAFLFSLETQTTIGYGYRCVTEECSVAVLMVILQSILSCII
                     NTFIIGAALAKMATARKRAQTIRFSYFALIGMRDGKLCLMWRIGDFRPNHVVEGTVRA
                     QLLRYTEDSEGRMTMAFKDLKLVNDQIILVTPVTIVHEIDHESPLYALDRKAVAKDNF
                     EILVTFIYTGDSTGTSHQSRSSYVPREILWGHRFNDVLEVKRKYYKVNCLQFEGSVEV
                     YAPFCSAKQLDWKDQQLHIEKAPPVRESCTSDTKARRRSFSAVAIVSSCENPEETTTS
                     ATHEYRETPYQKALLTLNRISVESQM"
     regulatory      3960..3965
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ16"
                     /gene_synonym="BIR9; HKTD; KIR5.1"
                     /note="hexamer: AATAAA"
     polyA_site      3986
                     /gene="KCNJ16"
                     /gene_synonym="BIR9; HKTD; KIR5.1"
                     /note="major polyA site"
ORIGIN      
        1 agattcccag ggaggaactg taggaacaaa ccggtgtcaa tggttaaccc aggttcttgg
       61 tgtctggagc ttttctttcc tttattatta actaaagagc attctctacc attgcccagc
      121 tgaaagcacc tagctcatag attctctgtg gggagagtga ataaagaatg ggggattgag
      181 gcacagagtg ttaaaatagt gagacacagg attctaactg gcagactggc actttatctc
      241 aattcttaac tgctgtgttg cctctcactt taaaggagta actcaagatg attttgatgt
      301 tgcagtttta aatttcactt tgacttgagc tgggaaatcc tttggcctat tataccatgg
      361 atgctaaaaa tggttctaac tgaaaaccca aaccaagaaa tagcaacaag tctagaattc
      421 ttactactac aaaactcacc tggatcccta agggcacagc aaagaatgag ctattacggc
      481 agcagctatc atattatcaa tgcggacgca aaatacccag gctacccgcc agagcacatt
      541 atagctgaga agagaagagc aagaagacga ttacttcaca aagatggcag ctgtaatgtc
      601 tacttcaagc acatttttgg agaatgggga agctatgtgg ttgacatctt caccactctt
      661 gtggacacca agtggcgcca tatgtttgtg atattttctt tatcttatat tctctcgtgg
      721 ttgatatttg gctctgtctt ttggctcata gcctttcatc atggcgatct attaaatgat
      781 ccagacatca caccttgtgt tgacaacgtc cattctttca caggggcctt tttgttctcc
      841 ctagagaccc aaaccaccat aggatatggt tatcgctgtg ttactgaaga atgttctgtg
      901 gccgtgctca tggtgatcct ccagtccatc ttaagttgca tcataaatac ctttatcatt
      961 ggagctgcct tggccaaaat ggcaactgct cgaaagagag cccaaaccat tcgtttcagc
     1021 tactttgcac ttataggtat gagagatggg aagctttgcc tcatgtggcg cattggtgat
     1081 tttcggccaa accacgtggt agaaggaaca gttagagccc aacttctccg ctatacagaa
     1141 gacagtgaag ggaggatgac gatggcattt aaagacctca aattagtcaa cgaccaaatc
     1201 atcctggtca ccccggtaac tattgtccat gaaattgacc atgagagccc tctgtatgcc
     1261 cttgaccgca aagcagtagc caaagataac tttgagattt tggtgacatt tatctatact
     1321 ggtgattcca ctggaacatc tcaccaatct agaagctcct atgttccccg agaaattctc
     1381 tggggccata ggtttaatga tgtcttggaa gttaagagga agtattacaa agtgaactgc
     1441 ttacagtttg aaggaagtgt ggaagtatat gccccctttt gcagtgccaa gcaattggac
     1501 tggaaagacc agcagctcca catagaaaaa gcaccaccag ttcgagaatc ctgcacgtcg
     1561 gacaccaagg cgagacgaag gtcatttagt gcagttgcca ttgtcagcag ctgtgaaaac
     1621 cctgaggaga ccaccacttc cgccacacat gaatataggg aaacacctta tcagaaagct
     1681 ctcctgactt taaacagaat ctctgtagaa tcccaaatgt agtcctaaat tgcaattatg
     1741 agggctacca ctgaatcatt ttatctttca gccaatcaag tcgttgtaaa cgtggctttt
     1801 ttgaaagtgt tatggctatg ttttatgatg atgctgggta agtagagtaa gttaaacttg
     1861 gtaaaagata atctaaaaat tccatagttc tcagttatta aaatttttct tgttcgccaa
     1921 ttttgtatta agaatgctat taagcctaat tgattaaaat ttatcttttt tattatctta
     1981 catgcttgta tcttcagttg gaggtgtagt attcaaaaac ggggaatgaa ggcaggaagg
     2041 aggctggaat aaataaaaat aaaaatagac aagtaagaca gcataaataa tacattttta
     2101 aacatgtcaa cattgataat acaatgaaga tttaccataa aaagtatcat atctaaccaa
     2161 gatatgcaaa agatgcattc agtaagctgt aacgttgaga aatgtaactg tgaaatcagc
     2221 tcaccagttc aagtcactag gtttgccact tggaccgtct tggtttcagc gagcatagcg
     2281 agtggctgta agaaattgtc catgccacca attccactgc tacttgccca ggtagtgatc
     2341 agtgagagtt agaagcaatt ttttctctaa ccgatgaggc agaagaaaag ttaacagtat
     2401 ttaaagcagc atttctctct taacgttcct gggagactcc aacaaatgga gaccagaaac
     2461 aaggcaacca cgaccttgct aggttctctg aggaggggac tttctatgtt cacgtcccac
     2521 cttcttcgag gacatgacca agggacagga tcatacagat gaggtgaggg gatggttagc
     2581 agcgataaac attctcagac ccttggagag aaaccgttgc tagcttgctg gtcccgaaag
     2641 attgcaactt tggctgctac agaaaggata gaaccttttt ggggggaggg tggggaggga
     2701 gatatttatt tgtgcccaga agcagttatg tatgcttctt gtcttggtta ctgtacaaga
     2761 tacaaatgac tcgagttgtg gattgcaaga aactctttta ttaaacttgg aacaaccatt
     2821 taaatgaagg attttgtgag atagaattca attaaagcga tttgaatgca cagtaagtgg
     2881 ataatctgag tacaatgaaa tttcttaagt tttagaacat gagataaagt tgtatactct
     2941 actttcatgt taaaatgtta atcatgatta ctttaagccc acatccactg agtaaagagt
     3001 cactttaaac tttataaatc aaagagatat taggaacatt cagaattatt tgtgttttgt
     3061 ttttgtttta cattgttgct gcactggcaa taagtatgtg gcactgtttt tatttgttta
     3121 tgttatttaa atacacaccc agacacacac acacacagtt tttgcttttt ctggaaaatc
     3181 tttctttctc ttctctctcc atgaaaatta aaacacacaa gtgaatgaag taattacata
     3241 gtccaagatt agaaatacaa gtaaaatata taggtatagg tagatagagt gcctttctgt
     3301 ttcttttctt ttcttttttc tttttttgtt cttccttcct ttcttccctc ctccccctca
     3361 tccttccctt tctccttctt ttcccttttt tttttttttt tgacctggga gtaataaagt
     3421 tactttttaa atgcacgtat gcaatctttt attcctcttg ttttatggat aagagatttg
     3481 ttcaggtcaa aagttgcaaa actgttctga agcttaatat tagagaccca agtaagattg
     3541 tttttagtct tgcttgagga atgcacactc catttaaaaa attgtgcgct ctgtagattt
     3601 ggattttaca gcagcaatta cttggctaaa ttagagtact gcaatcttgt aagtagaaaa
     3661 cagccaccat gacaataaac aaaaacactt aaaaatattt ttagcttgtt ttacctacat
     3721 ctagtttcat ttcatcttgc tttgctttgt tgactctgct accgctgatg tttgccttgt
     3781 caatatcaga ataggggcat cagtgtcccg tgaaatacat tttgttgtgc tatgagcctc
     3841 tgtaatcaaa tgcttgtact cagaagagag tgtaaaatca gcatttctat gtaacatata
     3901 tctctaatta tctgtgtaat tttataacat actttgacaa ccccagtgag ttacttaata
     3961 ataaagatct taaaataatg caaaaa
//
