LOCUS       NM_138444               6231 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 12
            (KCTD12), mRNA.
ACCESSION   NM_138444
VERSION     NM_138444.4
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 6231)
  AUTHORS   Liu,P., Liu,Z., Luo,Q., Fu,Q., Zhang,X., Yu,P., Zhou,S., Wang,Y.,
            Zhang,J., Chen,S., Zhang,H., Zhu,Q. and Qin,T.
  TITLE     A pan-cancer analysis of potassium channel tetramerization domain
            containing 12 in human cancer
  JOURNAL   Sci Rep 13 (1), 13898 (2023)
   PUBMED   37626178
  REMARK    GeneRIF: A pan-cancer analysis of potassium channel tetramerization
            domain containing 12 in human cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6231)
  AUTHORS   Luningham,J.M., Chen,J., Tang,S., De Jager,P.L., Bennett,D.A.,
            Buchman,A.S. and Yang,J.
  TITLE     Bayesian Genome-wide TWAS Method to Leverage both cis- and
            trans-eQTL Information through Summary Statistics
  JOURNAL   Am J Hum Genet 107 (4), 714-726 (2020)
   PUBMED   32961112
  REMARK    GeneRIF: Bayesian Genome-wide TWAS Method to Leverage both cis- and
            trans-eQTL Information through Summary Statistics.
REFERENCE   3  (bases 1 to 6231)
  AUTHORS   Ye,R.Y., Kuang,X.Y., Zeng,H.J., Shao,N., Lin,Y. and Wang,S.M.
  TITLE     KCTD12 promotes G1/S transition of breast cancer cell through
            activating the AKT/FOXO1 signaling
  JOURNAL   J Clin Lab Anal 34 (8), e23315 (2020)
   PUBMED   32207860
  REMARK    GeneRIF: KCTD12 promotes G1/S transition of breast cancer cell
            through activating the AKT/FOXO1 signaling.
REFERENCE   4  (bases 1 to 6231)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 6231)
  AUTHORS   Eszlari,N., Millinghoffer,A., Petschner,P., Gonda,X., Baksa,D.,
            Pulay,A.J., Rethelyi,J.M., Breen,G., Deakin,J.F.W., Antal,P.,
            Bagdy,G. and Juhasz,G.
  TITLE     Genome-wide association analysis reveals KCTD12 and miR-383-binding
            genes in the background of rumination
  JOURNAL   Transl Psychiatry 9 (1), 119 (2019)
   PUBMED   30886212
  REMARK    GeneRIF: association of KCTD12 gene and miR-383-binding genes with
            rumination
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6231)
  AUTHORS   Drenos,F., Talmud,P.J., Casas,J.P., Smeeth,L., Palmen,J.,
            Humphries,S.E. and Hingorani,A.D.
  TITLE     Integrated associations of genotypes with multiple blood biomarkers
            linked to coronary heart disease risk
  JOURNAL   Hum Mol Genet 18 (12), 2305-2316 (2009)
   PUBMED   19336475
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 6231)
  AUTHORS   Suehara,Y., Kondo,T., Seki,K., Shibata,T., Fujii,K., Gotoh,M.,
            Hasegawa,T., Shimada,Y., Sasako,M., Shimoda,T., Kurosawa,H.,
            Beppu,Y., Kawai,A. and Hirohashi,S.
  TITLE     Pfetin as a prognostic biomarker of gastrointestinal stromal tumors
            revealed by proteomics
  JOURNAL   Clin Cancer Res 14 (6), 1707-1717 (2008)
   PUBMED   18347171
  REMARK    GeneRIF: Pfetin is a powerful prognostic marker for
            gastrointestinal stromal tumors.
REFERENCE   8  (bases 1 to 6231)
  AUTHORS   Cauchi,S., Proenca,C., Choquet,H., Gaget,S., De Graeve,F.,
            Marre,M., Balkau,B., Tichet,J., Meyre,D., Vaxillaire,M. and
            Froguel,P.
  CONSRTM   D.E.S.I.R. Study Group
  TITLE     Analysis of novel risk loci for type 2 diabetes in a general French
            population: the D.E.S.I.R. study
  JOURNAL   J Mol Med (Berl) 86 (3), 341-348 (2008)
   PUBMED   18210030
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 6231)
  AUTHORS   Ballif,B.A., Villen,J., Beausoleil,S.A., Schwartz,D. and Gygi,S.P.
  TITLE     Phosphoproteomic analysis of the developing mouse brain
  JOURNAL   Mol Cell Proteomics 3 (11), 1093-1101 (2004)
   PUBMED   15345747
REFERENCE   10 (bases 1 to 6231)
  AUTHORS   Resendes,B.L., Kuo,S.F., Robertson,N.G., Giersch,A.B., Honrubia,D.,
            Ohara,O., Adams,J.C. and Morton,C.C.
  TITLE     Isolation from cochlea of a novel human intronless gene with
            predominant fetal expression
  JOURNAL   J Assoc Res Otolaryngol 5 (2), 185-202 (2004)
   PUBMED   15357420
  REMARK    GeneRIF: novel human gene, designated PFET1 (predominantly fetal
            expressed T1 domain) present in a variety of fetal organs, with
            highest expression levels in the cochlea and brain
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB153209.1, AF359381.1, AC000403.1 and BU742274.1.
            
            On May 17, 2019 this sequence version replaced NM_138444.3.
            
            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 is intronless :: AF359381.1, BC013764.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377474.4/ ENSP00000366694.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                DB153209.1         1-15
            16-3533             AF359381.1         1-3518
            3534-5693           AC000403.1         4440-6599           c
            5694-6231           BU742274.1         25-562              c
FEATURES             Location/Qualifiers
     source          1..6231
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q22.3"
     gene            1..6231
                     /gene="KCTD12"
                     /gene_synonym="C13orf2; PFET1; PFETIN"
                     /note="potassium channel tetramerization domain containing
                     12"
                     /db_xref="GeneID:115207"
                     /db_xref="HGNC:HGNC:14678"
                     /db_xref="MIM:610521"
     exon            1..6231
                     /gene="KCTD12"
                     /gene_synonym="C13orf2; PFET1; PFETIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             258..1235
                     /gene="KCTD12"
                     /gene_synonym="C13orf2; PFET1; PFETIN"
                     /note="predominantly fetal expressed T1 domain; potassium
                     channel tetramerisation domain containing 12; testicular
                     tissue protein Li 100"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD12"
                     /protein_id="NP_612453.1"
                     /db_xref="CCDS:CCDS9455.1"
                     /db_xref="GeneID:115207"
                     /db_xref="HGNC:HGNC:14678"
                     /db_xref="MIM:610521"
                     /translation="MALADSTRGLPNGGGGGGGSGSSSSSAEPPLFPDIVELNVGGQV
                     YVTRRCTVVSVPDSLLWRMFTQQQPQELARDSKGRFFLDRDGFLFRYILDYLRDLQLV
                     LPDYFPERSRLQREAEYFELPELVRRLGAPQQPGPGPPPSRRGVHKEGSLGDELLPLG
                     YSEPEQQEGASAGAPSPTLELASRSPSGGAAGPLLTPSQSLDGSRRSGYITIGYRGSY
                     TIGRDAQADAKFRRVARITVCGKTSLAKEVFGDTLNESRDPDRPPERYTSRYYLKFNF
                     LEQAFDKLSESGFHMVACSSTGTCAFASSTDQSEDKIWTSYTEYVFCRE"
     regulatory      6210..6215
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD12"
                     /gene_synonym="C13orf2; PFET1; PFETIN"
                     /note="hexamer: AATAAA"
     polyA_site      6231
                     /gene="KCTD12"
                     /gene_synonym="C13orf2; PFET1; PFETIN"
                     /note="major polyA site"
ORIGIN      
        1 actcgcctgg agcgcgcggg caaggcgggc ggagcgcact ggaactcaag ggggcgcaca
       61 gcggcgcgct cgcaccgctc ggctccgcgc ggctctagga ggtggcggcg gtggcggtgg
      121 cggcggtggc ggcggcggcg gcggcggggc gcagggctga gcgagcgtcc gggttccggg
      181 gctccgggga aggcggttgc agctcctgag tgcagcgcgg cttcctgcca ctgtcccggc
      241 ccggccacct ctctgtcatg gctctggcgg acagcacacg tggattaccc aacgggggcg
      301 gcggcggggg cggcagtggc tcctcgtcgt cctccgcgga gccaccgctc ttccccgaca
      361 tcgtggagct gaacgtgggg ggccaggtgt acgtgacccg gcgctgcacg gtggtgtcgg
      421 tgcccgactc gctgctctgg cgcatgttca cgcagcagca gccgcaggag ctggcccggg
      481 acagcaaagg ccgcttcttt ctggaccggg acggcttcct cttccgctac atcctggatt
      541 acctgcggga cttgcagctc gtgctgcccg actacttccc cgagcgcagc cggctgcagc
      601 gcgaggccga gtacttcgag ctgccagagc tcgtgcgccg cctcggggcg ccccagcagc
      661 ccggcccggg gccgccgccc tcgcggcgcg gggtgcacaa ggagggctcg ctgggtgacg
      721 agctgctgcc gcttggctac tcggagcccg aacagcagga gggcgcctct gccggggcgc
      781 cgtcgcccac gctggagctg gctagccgca gtccgtccgg gggcgcggcg ggcccgctgc
      841 tcacgccgtc ccagtcgctg gacggcagcc ggcgctcggg ctacatcacc atcggctacc
      901 gcggctccta caccatcggg cgggacgcgc aggcggacgc caagttccgg cgagtggcgc
      961 gcatcaccgt ttgcggaaag acgtcgctgg ccaaggaggt gtttggggac accctgaacg
     1021 aaagccggga ccccgaccgt cccccggagc gctacacctc gcgctattac ctcaagttca
     1081 acttcctgga gcaggccttc gacaagctgt ccgagtcggg cttccacatg gtggcgtgca
     1141 gctccacggg cacctgcgcc tttgccagca gcaccgacca gagcgaggac aagatctgga
     1201 ccagctacac cgagtacgtc ttctgcaggg agtgagctcc ccagaccccc tcgccactcc
     1261 agcgcccagt ccttctcctg cccgagagat gattacagag cctcttgtcc cacctttgtc
     1321 ccctggctgc tgccctccca ttctccccct ccagtagtag ctgggtgaga cctgtccgcc
     1381 caccttccct ccactacaga acctgcagcc gcaaatcctc tgggctgctt cgtcttcttt
     1441 ggacctcctg aaccgagaga acccagagga acccccaccc cacccccacc taccactcca
     1501 tgctttctct actccctgcc tcaaaccacc cctcccccag atggtacttc agtttggatc
     1561 tattggggga gtgtggccac agaccggggg atgattgaat tgttcagaac ctgattggac
     1621 cgtgtccaat gtgcggaaga tttccttgaa atcttctcaa gctcttatga ctcactgggg
     1681 gtttaagaga tcaggattgg ttccactgtc tggggttagt gttttacaag gtcattacac
     1741 agtctttttg acctcttttg aaggtagagt tttagaaggc tggatggaag attctgagcc
     1801 tggaattagg accccatgga ggcagttcag taactaaact aataaagttt tgaaaagtta
     1861 cacgtaaagt agaagaatct agtgcgtggg acagtaaagg atcctttctc gtacagaata
     1921 aaaggtctca gcctgtagct taaacttata gaaagtgatc cgcctgcctg cagaggcgcc
     1981 cttttcagct gctgctcgcc agaagccctt gattccactg gttgacatgg cagcagttac
     2041 tggcaagagg gagaaaggac gctgccgcct aagagtgcaa ggctgctcag gtctccaagc
     2101 gccgtaggag gtcacctggc agtgactgta gggagctggg tcatagtgca cgtcgtgggt
     2161 attaggaaag cctgtattct ttcaatgaat gtcagtagga ccttccttta gctgtaagac
     2221 ttggtgggcg gggtggggtg gggagggagg aaagggtagg aagggtggga agggagaagc
     2281 agacatagtc atttatgatt tgaaagttgg aagtttgtac catctgtttg agtatatgca
     2341 catttaaaaa atatcatata gtaaatgcaa acatgccaag tattttataa agattaataa
     2401 cagacctact cttacctggc agtttactta acttactgtt ttgagtccta aacttagagt
     2461 tgttaatgct tatatataat ctaaccaaag agttacccag tagggtttta gtttttgaac
     2521 ttttattttc ttgttgatta taaatcctga ttttggaatc tattgcgcaa aagaagtttc
     2581 attttggtta cttagaccta agatcactta ttaaaaatcc ttattttctc caagcccagc
     2641 aaacgttgac ttctgggcaa acctgaaaac ctgaaaatgc cactttcatg cagtttgttt
     2701 gaagttaagt ggaatccttt caaatgacga gctgcagaga actcagcacc aagggctgcc
     2761 tatctgtaga tagctgtaaa atggaatatt tttaaatgaa ggcaaataag tacttaaaag
     2821 tgagctgagc aataaaatgg tccaataata ggtaaatgca acagaaacag aaggagacct
     2881 ggttgcctta tgcctttact cttacatgga ataaattccc aatgcatatc ctatgtaaac
     2941 cataagtgaa gggaaataaa cctcgtcatg ctccatgctg tgaggtgtcc tttggatatt
     3001 ctgtgatgac agagaagcct attttgtttt gttttcagca tctttctctg atgtacgttt
     3061 ttaaggattt tgtaagagct gttttcagtg tttaaattag tgctattttt ccttgttttt
     3121 aaaaatgaat ctcgtactgt atcttactat gtccatacag atgttacaaa tcgacagttt
     3181 tattcttaga ctcatgtgat ccaagctgta tataccatat ataaacattt tacatgaatc
     3241 atttagtttt ttaattcatt tactaatgct ataaaatttc ctatattacc ccagtaattt
     3301 gcatcagctg gtttatatac taaagcaaca tgttttgatg agtttcttac atccttatcg
     3361 aggaattggg ttaggaaaaa atacataatt gtaaaactga gtttgctgta ttatactttt
     3421 tttcttgagt attagttgta ttactaatca tatgttgatt aactgtctac ttaaagtcaa
     3481 ggtacctgta tttttaatcc actaattttt ttttagttgg gaaatagatt tcaggtcttt
     3541 tattagacta acattttttg agaagtaaaa ttgacttcat atacaaagcc tgtaatttta
     3601 ggcgaaatgg aagcagaaat ctaggaagtt gtgcttgctt gtatgttgag tttggtctca
     3661 gactaagtaa tgcatcagaa ttcatctgtt tgaagcctga aataatttag gactctgatt
     3721 cactgaccaa aagtcagtgt tgcagagatt tctctacccc gtatggtatt ttgttagatt
     3781 gttcaacagg aagcacatga ttgagaacat cttgggacag accaaaacca ctgacagatg
     3841 gcaaggctcg gcgattctga tttcccttct caaatctgct caactccaag agtcttgaga
     3901 aactgctaaa attttgcctc tgtcactcaa gtcttacaaa tgttatcttg taaacctttg
     3961 aggtgaacta ttccactgtc ttgtacatag gcatcttatt cactgcaccc tgtcacaccc
     4021 agcacccccc gccccgcaca ttatttgaaa gactgggaat ttaatggtta gggacagtaa
     4081 atctacttct ttttccaggg acgactgtcc cctctaaagt taaagtcaat acaagaaaac
     4141 tgtctatttt tagcctaaag taaaggctgt gaagaaaatt cattttacat tgggtagaca
     4201 gtaaaaaaca agtaaaataa cttgacatga gcacctttag atcccttccc ctccatgggc
     4261 tttgggccac agaatgaacc tttgaggcct gtaaagtgga ttgtaatttc ctataagctg
     4321 taatagtgga ggtattgtgg gttcatttga gtaagccctc caaagatacc attcaaataa
     4381 cctgggagaa tgtcataaat tattcagata attaacactg catgaatctg attcagaggc
     4441 atgcatttac atatgttgcc ctaattacca tttgatgatc ataaatacaa gtgaatgaca
     4501 ttggactttt agtaacaaac ttaattttta aaaaggtgta gacaatggtg gttaaaaaaa
     4561 aaaaaaaaac aggtaccagg ttctgtgtgt ttgcaccaag taattgacat gttttttaat
     4621 acatgtggac catgaacagt attcattcta ctttttcaaa tgatatgctg tagaaaatat
     4681 tccttgaaga tgtgagattt aaaaattttt ccctttcaat gttgttatgt attctactgg
     4741 tttttgattg atagcacagt gataaatcat aatactagac aaaattgtct tctctttcaa
     4801 accagagcca tatatatgtc tgtatatatg ggacctactg cttctctgag gaaatgcata
     4861 atctgttaat atcagacaaa atgagcaatt ggcagtgctc ataatatatt ccaattttta
     4921 ttggaatttt cgatggaatg ttatttcaat aaagccatgt aaggtgaaac tttgataact
     4981 ttttactctt caagttaggg taaattctga tccaatattc aattcatttg tgtactccca
     5041 catgcaaaat gctaaattac aatgcagaca ttaagaaaaa gtattgactg gaggggttga
     5101 attccttgag aatttatttt atagtctaaa tcacaaatac tttactcaat ttagttttta
     5161 aaatagtaaa ctgaatattt ttgttgtaag cctatcagag tcaatccttc gtttggaatt
     5221 gttttcctgt ttttccttac tataaatcat ttaaaaactg aattcatttt cttagatggc
     5281 ataagtctgt ctcttgagaa ataagtaaaa tactcctatt ttcagtatct gtagcacctg
     5341 aaataggtct ttgtatagcc agaaacaagt tatgttgaag ttagcttttc tttgtcaaca
     5401 gttttggaca ataaaaatct gaaagtatta acacttgatt ttctactggg gcccttcaaa
     5461 cttggttgga agaaattcaa ccagaatatc tacattagag tataatcatg tgtggtagga
     5521 agatggacta gttaatcaag atttgttgtc acttaaattt tttgtgattt ttttccaagc
     5581 cagttttttt aaattctaaa tgtgttttga ggtatgggta cattaattgt aatgtaaact
     5641 attatacaac tgtttttgcg actttatagg caggtaaatt ttgctattac tattgaatac
     5701 aaatgacaat tcatttatga ccactcaaac agcgttagta accatttagt gacaaaggat
     5761 taaaacatcc atctggatgt taattttgaa gatgtaaatt atatgttgtt taaatttttc
     5821 caggcatctg aaaaccttat ctgctagaca atgtaagatt cacacagagt tatctgggat
     5881 tctgattttt taaatagtac atatcattaa accattttct ctaaatgtaa gaagagcaga
     5941 aaaaatctta taagattatc agatttttct aatgacacag aaatgtaaga aaaaaatccc
     6001 tttatattga aaaaagatgc agtcaaagtc ttttcagaca tgcccaaact ttgagaattt
     6061 cttcaaccat ctaatgctat aaagattttt gttcttcctg ttcacaacca gttgtataac
     6121 agaaatacta gctactgttt tccttcctgt gtgtgaagta atgaatcatt gattatgtga
     6181 cttgttatgt attcaattaa acactaaaga ataaaacatt cactccttta a
//
