LOCUS       NM_002241               5205 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 10 (KCNJ10), mRNA.
ACCESSION   NM_002241
VERSION     NM_002241.5
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 5205)
  AUTHORS   Wirth,T., Roze,E., Delvallee,C., Trouillard,O., Drouot,N.,
            Damier,P., Boulay,C., Bourgninaud,M., Jegatheesan,P., Sangare,A.,
            Forlani,S., Gaymard,B., Hervochon,R., Navarro,V., Calmels,N.,
            Schalk,A., Tranchant,C., Piton,A., Meneret,A. and Anheim,M.
  TITLE     Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal
            Kinesigenic Dyskinesia
  JOURNAL   Mov Disord 39 (5), 897-905 (2024)
   PUBMED   38436103
  REMARK    GeneRIF: Rare Missense Variants in KCNJ10 Are Associated with
            Paroxysmal Kinesigenic Dyskinesia.
REFERENCE   2  (bases 1 to 5205)
  AUTHORS   Huang,L.H., Zhao,X.L., Cheng,X.H., Yu,Y.D., Wen,C., Li,Y.,
            Wang,X.L., Wang,X.Y., Ruan,Y. and En,H.
  TITLE     [Analysis of genotypes on 850 newborns with SLC26A4 single-allele
            mutation and the phenotypes of those with second variant]
  JOURNAL   Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 58 (2), 117-125
            (2023)
   PUBMED   36748152
  REMARK    GeneRIF: [Analysis of genotypes on 850 newborns with SLC26A4
            single-allele mutation and the phenotypes of those with second
            variant].
REFERENCE   3  (bases 1 to 5205)
  AUTHORS   Stee,K., Van Poucke,M., Pumarola,M., Geerinckx,L., Van Soens,I.,
            Bhatti,S.F.M., Peelman,L. and Cornelis,I.
  TITLE     Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused
            by a KCNJ10 missense variant
  JOURNAL   J Vet Intern Med 37 (1), 216-222 (2023)
   PUBMED   36426918
  REMARK    GeneRIF: Spinocerebellar ataxia in the Bouvier des Ardennes breed
            is caused by a KCNJ10 missense variant.
REFERENCE   4  (bases 1 to 5205)
  AUTHORS   Klarov,L.A., Pshennikova,V.G., Romanov,G.P., Cherdonova,A.M.,
            Solovyev,A.V., Teryutin,F.M., Luginov,N.V., Kotlyarov,P.M. and
            Barashkov,N.A.
  TITLE     Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients
            with Incomplete Partition of the Cochlea and Enlarged Vestibular
            Aqueduct (EVA) Anomalies
  JOURNAL   Int J Mol Sci 23 (23), 15372 (2022)
   PUBMED   36499699
  REMARK    GeneRIF: Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in
            Patients with Incomplete Partition of the Cochlea and Enlarged
            Vestibular Aqueduct (EVA) Anomalies.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5205)
  AUTHORS   Della Vecchia,S., Marchese,M., Santorelli,F.M. and Sicca,F.
  TITLE     Kir4.1 Dysfunction in the Pathophysiology of Depression: A
            Systematic Review
  JOURNAL   Cells 10 (10), 2628 (2021)
   PUBMED   34685608
  REMARK    GeneRIF: Kir4.1 Dysfunction in the Pathophysiology of Depression: A
            Systematic Review.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5205)
  AUTHORS   Kurschner,C. and Yuzaki,M.
  TITLE     Neuronal interleukin-16 (NIL-16): a dual function PDZ domain
            protein
  JOURNAL   J Neurosci 19 (18), 7770-7780 (1999)
   PUBMED   10479680
REFERENCE   7  (bases 1 to 5205)
  AUTHORS   Kurschner,C., Mermelstein,P.G., Holden,W.T. and Surmeier,D.J.
  TITLE     CIPP, a novel multivalent PDZ domain protein, selectively interacts
            with Kir4.0 family members, NMDA receptor subunits, neurexins, and
            neuroligins
  JOURNAL   Mol Cell Neurosci 11 (3), 161-172 (1998)
   PUBMED   9647694
REFERENCE   8  (bases 1 to 5205)
  AUTHORS   Horio,Y., Hibino,H., Inanobe,A., Yamada,M., Ishii,M., Tada,Y.,
            Satoh,E., Hata,Y., Takai,Y. and Kurachi,Y.
  TITLE     Clustering and enhanced activity of an inwardly rectifying
            potassium channel, Kir4.1, by an anchoring protein, PSD-95/SAP90
  JOURNAL   J Biol Chem 272 (20), 12885-12888 (1997)
   PUBMED   9148889
REFERENCE   9  (bases 1 to 5205)
  AUTHORS   Shuck,M.E., Piser,T.M., Bock,J.H., Slightom,J.L., Lee,K.S. and
            Bienkowski,M.J.
  TITLE     Cloning and characterization of two K+ inward rectifier (Kir) 1.1
            potassium channel homologs from human kidney (Kir1.2 and Kir1.3)
  JOURNAL   J Biol Chem 272 (1), 586-593 (1997)
   PUBMED   8995301
REFERENCE   10 (bases 1 to 5205)
  AUTHORS   Smith,R.J.H., Azaiez,H. and Odell,A.M.
  TITLE     SLC26A4-Related Sensorineural Hearing Loss
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301640
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA958759.1, BC131627.1,
            AL513302.15 and BM675618.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002241.4.
            
            Summary: This gene encodes a member of the inward rectifier-type
            potassium channel family, characterized by having a greater
            tendency to allow potassium to flow into, rather than out of, a
            cell. The encoded protein may form a heterodimer with another
            potassium channel protein and may be responsible for the potassium
            buffering action of glial cells in the brain. Mutations in this
            gene have been associated with seizure susceptibility of common
            idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR1803615.51981.1,
                                           SRR1660803.138707.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644903.1/ ENSP00000495557.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-444               DA958759.1         102-545
            445-2603            BC131627.1         442-2600
            2604-4596           AL513302.15        47786-49778         c
            4597-5205           BM675618.1         18-626              c
FEATURES             Location/Qualifiers
     source          1..5205
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..5205
                     /gene="KCNJ10"
                     /gene_synonym="BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1;
                     SESAME"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 10"
                     /db_xref="GeneID:3766"
                     /db_xref="HGNC:HGNC:6256"
                     /db_xref="MIM:602208"
     exon            1..139
                     /gene="KCNJ10"
                     /gene_synonym="BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1;
                     SESAME"
                     /inference="alignment:Splign:2.1.0"
     exon            140..5205
                     /gene="KCNJ10"
                     /gene_synonym="BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1;
                     SESAME"
                     /inference="alignment:Splign:2.1.0"
     CDS             140..1279
                     /gene="KCNJ10"
                     /gene_synonym="BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1;
                     SESAME"
                     /note="glial ATP-dependent inwardly rectifying potassium
                     channel KIR4.1; inward rectifier K+ channel KIR1.2; inward
                     rectifier K(+) channel Kir1.2; ATP-dependent inwardly
                     rectifying potassium channel Kir4.1; potassium channel,
                     inwardly rectifying subfamily J member 10; potassium
                     voltage-gated channel subfamily J member 10"
                     /codon_start=1
                     /product="ATP-sensitive inward rectifier potassium channel
                     10"
                     /protein_id="NP_002232.2"
                     /db_xref="CCDS:CCDS1193.1"
                     /db_xref="GeneID:3766"
                     /db_xref="HGNC:HGNC:6256"
                     /db_xref="MIM:602208"
                     /translation="MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHI
                     ADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWFLFGVVWYLVAVAHGDLLELDPP
                     ANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
                     ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLL
                     QTHQTKEGENIRLNQVNVTFQVDTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGD
                     FELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSASGKYIADFSLFDQVV
                     KVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV"
     regulatory      4388..4393
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ10"
                     /gene_synonym="BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1;
                     SESAME"
                     /note="hexamer: AATAAA"
     polyA_site      4413
                     /gene="KCNJ10"
                     /gene_synonym="BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1;
                     SESAME"
                     /note="major polyA site"
     regulatory      5178..5183
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ10"
                     /gene_synonym="BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1;
                     SESAME"
                     /note="hexamer: AATAAA"
     polyA_site      5205
                     /gene="KCNJ10"
                     /gene_synonym="BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1;
                     SESAME"
ORIGIN      
        1 atctgatccc agctccgggt ttaagagtcc tggcccggcc cgtcgcacag ctctgctcct
       61 aactcctgcc cgccccgtcc gtccatctgt cccgctgccc cgcggcccat ccaaggggcc
      121 actccacctc ggacccaaga tgacgtcagt tgccaaggtg tattacagtc agaccactca
      181 gacagaaagc cggcccctaa tgggcccagg gatacgacgg cggagagtcc tgacaaaaga
      241 tggtcgcagc aacgtgagaa tggagcacat tgccgacaag cgcttcctct acctcaagga
      301 cctgtggaca accttcattg acatgcagtg gcgctacaag cttctgctct tctctgcgac
      361 ctttgcaggc acatggttcc tctttggcgt ggtgtggtat ctggtagctg tggcacatgg
      421 ggacctgctg gagctggacc ccccggccaa ccacaccccc tgtgtggtac aggtgcacac
      481 actcactgga gccttcctct tctcccttga atcccaaacc accattggct atggcttccg
      541 ctacatcagt gaggaatgtc cactggccat tgtgcttctt attgcccagc tggtgctcac
      601 caccatcctg gaaatcttca tcacaggtac cttcctggcg aagattgccc ggcccaagaa
      661 gcgggctgag accattcgtt tcagccagca tgcagttgtg gcctcccaca atggcaagcc
      721 ctgcctcatg atccgagttg ccaatatgcg caaaagcctc ctcattggct gccaggtgac
      781 aggaaaactg cttcagaccc accaaaccaa ggaaggggag aacatccggc tcaaccaggt
      841 caatgtgact ttccaagtag acacagcctc tgacagcccc ttccttattc taccccttac
      901 cttctatcat gtggtagatg agaccagtcc cttgaaagat ctccctcttc gcagtggtga
      961 gggtgacttt gagctggtgc tgatcctaag tgggacagtg gagtccacca gtgccacctg
     1021 tcaggtgcgc acttcctacc tgccagagga gatcctttgg ggctacgagt tcacacctgc
     1081 catctcactg tcagccagtg gtaaatacat agctgacttt agcctttttg accaagttgt
     1141 gaaagtggcc tctcctagtg gcctccgtga cagcactgta cgctacggag accctgaaaa
     1201 gctcaagttg gaggagtcat taagggagca agctgagaag gagggcagtg cccttagtgt
     1261 gcgcatcagc aatgtctgat gacctgttcc cactccccca ttcctctggt ctcttttcct
     1321 ctcttccaat gccctggtaa ggaatactac ccgggtttac tggagatccc ccgaagcacc
     1381 catcctccac tccctcttct ttaacccagt ggcctgttgg tagcttaggc caactggagt
     1441 ccaggttcgc ctcccactgt cccctttcca cttccccagc ttctgcccca atacacatac
     1501 ctcccttaag ccaggatggg ggaaagagtg ggattaggct gaagtggctt agaaggcctc
     1561 agccatgctt ggatactcac attaggagga ccatgtggtt ggaaggatag actgccccct
     1621 acctcccacc accaccatga agtttggtga cttgaggctg gagctccctc tgttaccttt
     1681 ccatctagca agttcccaaa ggcaagactc tctctgatgg tcactttgtg gtctgtgctt
     1741 tcagaaatac aggaatctga tatcaacata tcctagggtt tctaccaatc tctgttgaaa
     1801 gaagccaggg tttgccactg tgaagcttga tttctgctgg tgacttctga ccataagcta
     1861 gaaccatggt cgccactgtt ttccctctgt agtttctcaa gtgaacactc tcaggatacc
     1921 cagttccctc atagcctctg ttctcagaga attggagttg gcccaagaaa cataaacata
     1981 taaccaccca tatctatcct ggattctgaa ctcttcaatt tggagtgact aacacaagtt
     2041 gttatctaaa cctttaaacc tatcttccag gcagcccaga gaagatctgt ttccctgtgt
     2101 cctgtgaatg gaaggaccca agccaatatg ttcctttgaa aagagtccag tacccaggcc
     2161 ccatggaaag gtctgaaaat aatattccag attacactgt acctggcttc tcttcttcct
     2221 ttcctgctca gcctagatcc ttcttcctta accccaactc tttgggagaa gggagggaaa
     2281 atgcaagggc cttcctctct taacacggat gctcaagtaa aactagattc acagggcaca
     2341 gattccccag aaagttaaca caatcccacc atgagggatg ggtaaattct cagatttcca
     2401 aactgctgta cagagcctct gagaattggt gatgctttgt taaggtttgg gcaggagcag
     2461 aactctgtgg ctggcagcca ctattctcag ttacacctcc cagtgccctt ctgaaaagtg
     2521 ccagctattt cattaggcaa tgctggaagg aaatgaaatt ataccttctg atcaaataac
     2581 catggcttcc ctcagccatt cctgagactt ggtataaaat gaagaaatca gtgtcatctc
     2641 tactctcctc tgccatgagg ccattttcag acaagttaaa aagtagactt taagagatca
     2701 aactcagcct attccttgtt ccctggtggg gtctgtggta agggtcaggg aagggcatat
     2761 aggcaccaga gctttatcca aagccccaaa tccctagagt gctttctggt ctcactttgg
     2821 taccaaggaa gcctcacata gtggtactgc atagtcccac tataagtcaa gttgcagttt
     2881 aaggtggtct cagccaattg ttacaagcta cagaatatat acatgcatct atgtacagag
     2941 ccttgcagag aaacacaaaa ttttgaggct agacccatga tcaccaccaa ctataattgc
     3001 acaaggtctt gttatattga tctctcctcg aactcaacta actatatctt gaaaacaaag
     3061 acccttcggt gtccatctac agtaaacccc accattacct tctagttggc ataaaaacaa
     3121 gaaccacaaa aacttgaaaa atctgaaaca gagaacagaa ggccaagagc cagcttctgc
     3181 gttctcaact ttattcaaca ttagacttac cttatttctt tcagtgtgta gggacaagat
     3241 gtactgctgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtct
     3301 ataccttcct atccattgcc aagttaacct ccatctggtt tatttggcca tgctatgctt
     3361 tcttcccatt cccctgctgt ctattctaag cccccagact caagcctcta gactcttgga
     3421 tgaaacagtg agaagaaaac attttctgac ttaccctttt ggaatctcct ccattattac
     3481 ccaggctttg ctttaagttg cactttaaat cacactgtcc tattaatgcg atctggcatc
     3541 ttctcccaca agccccctac agggaacaac taccccctac cttaactcta aatggttctt
     3601 tagactatag tctgtctcct ctgacctgaa atcctctttt aggcaatagg ccgagcttta
     3661 gaagcagcca ggtctggtga gaaatgggcc cccataccaa ctgtggactt ggaatatcag
     3721 cagagtagta ggcacagttg taaaaagggg agatttcggt aggcacaggt gtaaaaaggg
     3781 gagatttcag aagacgggcg aaacaactga tgggggaaga tacctggggt gagaagatga
     3841 gaaagaaatg atgctgaggg acctagtgaa atcaatgaaa ctcttgagtc ttgcttaggc
     3901 tcgcaaacaa gaagtgggga ggcttgggaa attaggatat gacatatatg aaaggtttat
     3961 ctaagaagaa agaaacagag ataatatata tatagaaaga tgtatataga tgtatatatg
     4021 cccaaatata ttgaatgtac agaaaggaaa tattcagaga ctttagcatt gggggcagat
     4081 atcttggcct ggttatgggg taggacaccc agattttcag acttacaatc agtggtcctg
     4141 gtttcaacat ggaagtgaga tagctgatga aggatttcaa gtctggaaat gggaaaggga
     4201 ggggtagaag ttccttttca gaaataaaga ggcattcatg aaggcttttg ttgaatccta
     4261 tgctactgat aggaccagga agagaggaac tcggaggaca atagggaggg gaagtcttgg
     4321 aaaatctacc acttacactg tgtgtcccca tccccagcag cgtcctgcca ctgtagcgcc
     4381 tttttaaaat aaataaaata aaataaagca ccattttgtt tccctttcat gaagtacact
     4441 gtatttccgt cttccacagg ggtgggagct gctattgctc tagcccctga aatcaaactc
     4501 aggagctgaa cactttggtg tatgggaggc actaatggga agcctcaacc ctggaatcca
     4561 aatgccagga ctaatagctg ttaggctgaa gatctcccaa ggtcaaggcc cagccttttg
     4621 tgtggctgca agcagcccaa agagaaagcc atggattcca gaagagttcc aatcctggca
     4681 tttgggcatg gagggtgatg ctttggtttt gatgcttctg aatgaaaatg aggagtgggg
     4741 ttaccagctg ctctagggga tggtgaagtt ccatgagagg cttccgaaat ctctgcaatg
     4801 tgcttcaccc cattattccc ccaacccctg tcagcctaat aaaatcatcc agtagtttcc
     4861 ctataaggtc tgagcagaga aagaaagcca gttatactat tgctacaagt ccaggacact
     4921 gtgccctctc catggctgct gccctggtcc tttattcttg ctagctaacc tagttcactt
     4981 gtacagtaac acactacctt tgctggaaag ttagcatggg tctccaggct cagtaatggc
     5041 caactctact gatgcagaag tatttaggga tgttttttcc attcattgca ctaaagacta
     5101 aaccaggtca aatttatcta ggaaaaaaaa ggtgtgtaag atttgttttg tttttgtctg
     5161 ttaaaaataa gctactaaat aaaatggatg actctttggt tgtca
//
