LOCUS       NM_002242               3609 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 13 (KCNJ13), transcript variant 1, mRNA.
ACCESSION   NM_002242
VERSION     NM_002242.4
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 3609)
  AUTHORS   Hernandez,C.C., Gimenez,L.E., Dahir,N.S., Peisley,A. and Cone,R.D.
  TITLE     The unique structural characteristics of the Kir 7.1 inward
            rectifier potassium channel: a novel player in energy homeostasis
            control
  JOURNAL   Am J Physiol Cell Physiol 324 (3), C694-C706 (2023)
   PUBMED   36717105
  REMARK    GeneRIF: The unique structural characteristics of the Kir 7.1
            inward rectifier potassium channel: a novel player in energy
            homeostasis control.
            Review article
REFERENCE   2  (bases 1 to 3609)
  AUTHORS   Schroeder,M., Peter,V.G., Granse,L., Andreasson,S., Rivolta,C. and
            Kjellstrom,U.
  TITLE     A novel phenotype associated with the R162W variant in the KCNJ13
            gene
  JOURNAL   Ophthalmic Genet 43 (4), 500-507 (2022)
   PUBMED   35477418
  REMARK    GeneRIF: A novel phenotype associated with the R162W variant in the
            KCNJ13 gene.
REFERENCE   3  (bases 1 to 3609)
  AUTHORS   Kanzaki,Y., Fujita,H., Sato,K., Hosokawa,M., Matsumae,H.,
            Shiraga,F., Morizane,Y. and Ohuchi,H.
  TITLE     KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in
            Retinal Pigment Epithelium Derived from Human-Induced Pluripotent
            Stem Cells
  JOURNAL   Invest Ophthalmol Vis Sci 61 (5), 38 (2020)
   PUBMED   32437550
  REMARK    GeneRIF: KCNJ13 Gene Deletion Impairs Cell Alignment and
            Phagocytosis in Retinal Pigment Epithelium Derived from
            Human-Induced Pluripotent Stem Cells.
REFERENCE   4  (bases 1 to 3609)
  AUTHORS   Toms,M., Dubis,A.M., Lim,W.S., Webster,A.R., Gorin,M.B. and
            Moosajee,M.
  TITLE     Missense variants in the conserved transmembrane M2 protein domain
            of KCNJ13 associated with retinovascular changes in humans and
            zebrafish
  JOURNAL   Exp Eye Res 189, 107852 (2019)
   PUBMED   31647904
  REMARK    GeneRIF: Both human and zebrafish variants are missense and located
            within the conserved transmembrane M2 protein domain, suggesting
            that disruption of this region may contribute to retinovascular
            changes as an additional feature to the previously described LCA
            phenotype. Close monitoring of other patients with similar
            mutations may be required to minimise the ensuing retinal damage.
REFERENCE   5  (bases 1 to 3609)
  AUTHORS   Derst,C., Doring,F., Preisig-Muller,R., Daut,J., Karschin,A.,
            Jeck,N., Weber,S., Engel,H. and Grzeschik,K.H.
  TITLE     Partial gene structure and assignment to chromosome 2q37 of the
            human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13)
  JOURNAL   Genomics 54 (3), 560-563 (1998)
   PUBMED   9878260
REFERENCE   6  (bases 1 to 3609)
  AUTHORS   Doring,F., Derst,C., Wischmeyer,E., Karschin,C.,
            Schneggenburger,R., Daut,J. and Karschin,A.
  TITLE     The epithelial inward rectifier channel Kir7.1 displays unusual K+
            permeation properties
  JOURNAL   J Neurosci 18 (21), 8625-8636 (1998)
   PUBMED   9786970
REFERENCE   7  (bases 1 to 3609)
  AUTHORS   Partiseti,M., Collura,V., Agnel,M., Culouscou,J.M. and Graham,D.
  TITLE     Cloning and characterization of a novel human inwardly rectifying
            potassium channel predominantly expressed in small intestine
  JOURNAL   FEBS Lett 434 (1-2), 171-176 (1998)
   PUBMED   9738472
REFERENCE   8  (bases 1 to 3609)
  AUTHORS   Krapivinsky,G., Medina,I., Eng,L., Krapivinsky,L., Yang,Y. and
            Clapham,D.E.
  TITLE     A novel inward rectifier K+ channel with unique pore properties
  JOURNAL   Neuron 20 (5), 995-1005 (1998)
   PUBMED   9620703
REFERENCE   9  (bases 1 to 3609)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   10 (bases 1 to 3609)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314019.1, AJ007557.1 and
            AC064852.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 24, 2010 this sequence version replaced NM_002242.3.
            
            Summary: This gene encodes a member of the inwardly rectifying
            potassium channel family of proteins. Members of this family form
            ion channel pores that allow potassium ions to pass into a cell.
            The encoded protein belongs to a subfamily of low signal channel
            conductance proteins that have a low dependence on potassium
            concentration. Mutations in this gene are associated with snowflake
            vitreoretinal degeneration. Alternate splicing results in multiple
            transcript variants.[provided by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC037290.2, SRR1803615.52690.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000233826.4/ ENSP00000233826.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                AK314019.1         1-34
            35-660              AJ007557.1         14-639
            661-661             AC064852.4         116275-116275       c
            662-2947            AJ007557.1         641-2926
            2948-3609           AC064852.4         113327-113988       c
FEATURES             Location/Qualifiers
     source          1..3609
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..3609
                     /gene="KCNJ13"
                     /gene_synonym="KIR1.4; KIR7.1; LCA16; SVD"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 13"
                     /db_xref="GeneID:3769"
                     /db_xref="HGNC:HGNC:6259"
                     /db_xref="MIM:603208"
     exon            1..121
                     /gene="KCNJ13"
                     /gene_synonym="KIR1.4; KIR7.1; LCA16; SVD"
                     /inference="alignment:Splign:2.1.0"
     exon            122..597
                     /gene="KCNJ13"
                     /gene_synonym="KIR1.4; KIR7.1; LCA16; SVD"
                     /inference="alignment:Splign:2.1.0"
     CDS             138..1220
                     /gene="KCNJ13"
                     /gene_synonym="KIR1.4; KIR7.1; LCA16; SVD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     potassium channel, inwardly rectifying subfamily J, member
                     13; inward rectifier K(+) channel Kir7.1; potassium
                     voltage-gated channel subfamily J member 13"
                     /codon_start=1
                     /product="inward rectifier potassium channel 13 isoform 1"
                     /protein_id="NP_002233.2"
                     /db_xref="CCDS:CCDS2498.1"
                     /db_xref="GeneID:3769"
                     /db_xref="HGNC:HGNC:6259"
                     /db_xref="MIM:603208"
                     /translation="MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDA
                     WGILMDMRWRWMMLVFSASFVVHWLVFAVLWYVLAEMNGDLELDHDAPPENHTICVKY
                     ITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
                     ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLY
                     QTSVDFHLDGISSDECPFFIFPLTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQE
                     GTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDKTVPEFPTPLVSKSP
                     NRTDLDIHINGQSIDNFQISETGLTE"
     exon            598..3609
                     /gene="KCNJ13"
                     /gene_synonym="KIR1.4; KIR7.1; LCA16; SVD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2925..2930
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ13"
                     /gene_synonym="KIR1.4; KIR7.1; LCA16; SVD"
                     /note="hexamer: AATAAA"
     polyA_site      2947
                     /gene="KCNJ13"
                     /gene_synonym="KIR1.4; KIR7.1; LCA16; SVD"
                     /note="major polyA site"
     regulatory      3185..3190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ13"
                     /gene_synonym="KIR1.4; KIR7.1; LCA16; SVD"
                     /note="hexamer: AATAAA"
     polyA_site      3208
                     /gene="KCNJ13"
                     /gene_synonym="KIR1.4; KIR7.1; LCA16; SVD"
ORIGIN      
        1 agtccaagaa gagaacctac aaactagact tgtagattaa aattatctga tcaaaaaggc
       61 agactctgta aatttcctta agacctacct tggcataaag gctgacccag caaaagaact
      121 gagaaataca gcctgagatg gacagcagta attgcaaagt tattgctcct ctcctaagtc
      181 aaagataccg gaggatggtc accaaggatg gccacagcac acttcaaatg gatggcgctc
      241 aaagaggtct tgcatatctt cgagatgctt ggggaatcct aatggacatg cgctggcgtt
      301 ggatgatgtt ggtcttttct gcttcttttg ttgtccactg gcttgtcttt gcagtgctct
      361 ggtatgttct ggctgagatg aatggtgatc tggaactaga tcatgatgcc ccacctgaaa
      421 accacactat ctgtgtcaag tatatcacca gtttcacagc tgcattctcc ttctccctgg
      481 agacacaact cacaattggt tatggtacca tgttccccag tggtgactgt ccaagtgcaa
      541 tcgccttact tgccatacaa atgctcctag gcctcatgct agaggctttt atcacaggtg
      601 cttttgtggc gaagattgcc cggccaaaaa atcgagcttt ttcaattcgc tttactgaca
      661 cagcagtagt agctcacatg gatggcaaac ctaatcttat cttccaagtg gccaacaccc
      721 gacctagccc tctaaccagt gtccgggtct cagctgtact ctatcaggaa agagaaaatg
      781 gcaaactcta ccagaccagt gtggatttcc accttgatgg catcagttct gacgaatgtc
      841 cattcttcat ctttccacta acgtactatc actccattac accatcaagt cctctggcta
      901 ctctgctcca gcatgaaaat ccttctcact ttgaattagt tgtattcctt tcagcaatgc
      961 aggagggcac tggagaaata tgccaaagga ggacatccta cctaccgtct gaaatcatgt
     1021 tacatcactg ttttgcatct ctgttgaccc gaggttccaa aggtgaatat caaatcaaga
     1081 tggagaattt tgacaagact gtccctgaat ttccaactcc tctggtttct aaaagcccaa
     1141 acaggactga cctggatatc cacatcaatg gacaaagcat tgacaatttt cagatctctg
     1201 aaacaggact gacagaataa gacttatcca ttttttaatg tattaaatac acccagccag
     1261 ttatgcagct actttttctt tactgtatct catgttttct tttttcaatg ctaattatag
     1321 ctctctacat cacggtaatc atgcctatgc ctacataaga atggctgagc taacaataca
     1381 cattctggaa acataacact ctacattaca aagtttgtta cctgctgaaa tcaatgtaac
     1441 tcaacttgac agacacttat acagaaatgt tgctggtgaa tttataagaa tgtggtatga
     1501 tactagtaat gaaggcaaaa tggacagtga agtttaacac aactgaactc taagaaaatc
     1561 aaccattaat ctctcatttt catctgcaaa ttgaagcaac agtttagttt caaacctagc
     1621 tccctgggtg gaatgacgac ttcactatac ttagtgaata tcctttaaga gctgggattt
     1681 ttttcaagac aacaaagatc attcatttgg ttctttatac tatgaaactt gagtaagtat
     1741 tacctcctta atttttaaca actaagaaca aaaattaacg agaaaaacaa caaagtacag
     1801 atttatacat aaacctaaaa gcatttgaac atgacacccg aacacataca tatatgttca
     1861 cttatttgtg gcagaaggtg atcagataag ctccagccca aatggaacct gtggggtggt
     1921 attttgcatt gcaaggagac gcaaaatttt attttaaaac tgtcctccat aataatcaaa
     1981 cggtgattca tctaaatgac ttctagcaac ctaagtaaaa acattcccct cctatgtatg
     2041 attcatttga tcatataaaa catcatgatg gctctaattc ataaatacaa aaatatattt
     2101 aagtctttat agatataaag ctttacttag atataacttg agtgagtagg gaaaaaaatc
     2161 tacagtagat aaagcaaaag ataattaggc aacaaagcat tttcaaactc aaattcctgt
     2221 ttccaacttc aaatagtttt ttctataaac acaaaatcag tgtttattca ccagtaggag
     2281 gttggactag atgaactcta ttatttcttt ctaaatctaa tagtctataa aaattatgtt
     2341 tcctctgttt tttattttat ctatgctaaa atgagccctt tcccttatgt ccagtttaag
     2401 atgatcattt gcatgatttt catttcaata aaaaaaagag aaactgtcct taaaacaaaa
     2461 caaaaaccaa aaaagtcacc ctatcaggtt tcaaacagat ttgtggctgt tcttttctga
     2521 aatttccctt attcaggttt ctgtgggaaa aatgaaagat taaccttccc cactggtgat
     2581 gacctaggca ggaatcatct cttgaaataa atactagctg agtaaaggca agcaggtgtg
     2641 aagagcaggg ctcagcagca agtcacattt ttctactatt tgaccaaaag gaaaagaaaa
     2701 taaagaagaa ctctggagtg gtctaagact gataatagca gaagaatatc aagaacacag
     2761 aaacttaatt attgtgaact tttgctgttt gaaaatctta gacattcatt cttaagtaga
     2821 aatcagacca acagattttc ccaacccaag actattgtaa cacataaaga cagcaagaat
     2881 tcttatttct ataataaatt aacaagattc acctaacctt tgaaaataaa gtagtattga
     2941 agacttacat ggtatgtttt ttcctaaagg cactacatca cttacacagt tcaccctctc
     3001 gcttgttaag tgaagctgcc caaggtgaca taagtgaatg agtaaaacct gagatctaag
     3061 gttccattta agtcagatga gtttcatatt atacttactg tttataataa atttggcatt
     3121 tgaaaactaa atatgacttc ccctacacat gccaaaaaaa actattggta aactactgtt
     3181 atttaataaa cactttataa atctataaga aacgtgatcc aaaacttttt tgcaggagat
     3241 agaaagtttc tgggaggact gttcattgtt tctttcactt atttcaaatc acagtttcta
     3301 ggttaaggat taggttttct atagaaagac cattatcctc tgaggaaaag gaagtaacaa
     3361 tggaaaaagg gcggaaatta ctgggaggga ggaatggctg ctctgccttt ctggatgtgc
     3421 agctcactaa cctggatcat ctgggagctt ggtcatgaag tcttgcacac atgatcagga
     3481 agactacttc ggaactaact ttaaacgttc ctttggaaac tgataaagat agcatgacag
     3541 tttcaacaaa ctggaggcat gtcgttacct aaaaatctca ggggcctagt tttacatatg
     3601 tacaagccc
//
