LOCUS       NM_177400               2768 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens NK6 homeobox 2 (NKX6-2), mRNA.
ACCESSION   NM_177400
VERSION     NM_177400.3
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 2768)
  AUTHORS   Chanoumidou,K., Hernandez-Rodriguez,B., Windener,F., Thomas,C.,
            Stehling,M., Mozafari,S., Albrecht,S., Ottoboni,L., Antel,J.,
            Kim,K.P., Velychko,S., Cui,Q.L., Xu,Y.K.T., Martino,G., Winkler,J.,
            Scholer,H.R., Baron-Van Evercooren,A., Boespflug-Tanguy,O.,
            Vaquerizas,J.M., Ehrlich,M. and Kuhlmann,T.
  TITLE     One-step Reprogramming of Human Fibroblasts into
            Oligodendrocyte-like Cells by SOX10, OLIG2, and NKX6.2
  JOURNAL   Stem Cell Reports 16 (4), 771-783 (2021)
   PUBMED   33770499
  REMARK    GeneRIF: One-step Reprogramming of Human Fibroblasts into
            Oligodendrocyte-like Cells by SOX10, OLIG2, and NKX6.2.
REFERENCE   2  (bases 1 to 2768)
  AUTHORS   Dai,J., Peng,T. and Yu,X.
  TITLE     NK6 Homeobox 2 Regulated Gastrokin-2 Suppresses Gastric Cancer Cell
            Proliferation and Invasion via Akt Signaling Pathway
  JOURNAL   Cell Biochem Biophys 79 (1), 123-131 (2021)
   PUBMED   33009998
  REMARK    GeneRIF: NK6 Homeobox 2 Regulated Gastrokin-2 Suppresses Gastric
            Cancer Cell Proliferation and Invasion via Akt Signaling Pathway.
REFERENCE   3  (bases 1 to 2768)
  AUTHORS   Almatrafi,A., Umair,M., Eldardear,A., Al-Luqmani,M., Hashmi,J.A.,
            Albalawi,A.M., Alfadhel,M., Ramzan,K. and Basit,S.
  TITLE     A homozygous missense variant in the homeobox domain of the NKX6-2
            results in progressive spastic ataxia type 8 associated with lower
            limb weakness and neurological manifestations
  JOURNAL   J Gene Med 22 (8), e3196 (2020)
   PUBMED   32246862
  REMARK    GeneRIF: A homozygous missense variant in the homeobox domain of
            the NKX6-2 results in progressive spastic ataxia type 8 associated
            with lower limb weakness and neurological manifestations.
REFERENCE   4  (bases 1 to 2768)
  AUTHORS   Hosseini Bereshneh,A., Hosseipour,S., Rasoulinezhad,M.S., Pak,N.,
            Garshasbi,M. and Tavasoli,A.R.
  TITLE     Expanding the clinical and neuroimaging features of NKX6-2-related
            hereditary spastic ataxia type 8
  JOURNAL   Eur J Med Genet 63 (5), 103868 (2020)
   PUBMED   32004679
  REMARK    GeneRIF: Expanding the clinical and neuroimaging features of
            NKX6-2-related hereditary spastic ataxia type 8.
REFERENCE   5  (bases 1 to 2768)
  AUTHORS   Chelban,V., Alsagob,M., Kloth,K., Chirita-Emandi,A.,
            Vandrovcova,J., Maroofian,R., Davagnanam,I., Bakhtiari,S.,
            AlSayed,M.D., Rahbeeni,Z., AlZaidan,H., Malintan,N.T.,
            Johannsen,J., Efthymiou,S., Ghayoor Karimiani,E., Mankad,K.,
            Al-Shahrani,S.A., Beiraghi Toosi,M., AlShammari,M., Groppa,S.,
            Haridy,N.A., AlQuait,L., Qari,A., Huma,R., Salih,M.A., Almass,R.,
            Almutairi,F.B., Hamad,M.H., Alorainy,I.A., Ramzan,K., Imtiaz,F.,
            Puiu,M., Kruer,M.C., Bierhals,T., Wood,N.W., Colak,D., Houlden,H.
            and Kaya,N.
  TITLE     Genetic and phenotypic characterization of NKX6-2-related spastic
            ataxia and hypomyelination
  JOURNAL   Eur J Neurol 27 (2), 334-342 (2020)
   PUBMED   31509304
  REMARK    GeneRIF: Genetic and phenotypic characterization of NKX6-2-related
            spastic ataxia and hypomyelination.
REFERENCE   6  (bases 1 to 2768)
  AUTHORS   Chelban,V., Patel,N., Vandrovcova,J., Zanetti,M.N., Lynch,D.S.,
            Ryten,M., Botia,J.A., Bello,O., Tribollet,E., Efthymiou,S.,
            Davagnanam,I., Bashiri,F.A., Wood,N.W., Rothman,J.E., Alkuraya,F.S.
            and Houlden,H.
  CONSRTM   SYNAPSE Study Group
  TITLE     Mutations in NKX6-2 Cause Progressive Spastic Ataxia and
            Hypomyelination
  JOURNAL   Am J Hum Genet 100 (6), 969-977 (2017)
   PUBMED   28575651
  REMARK    GeneRIF: NKX6-2 mutations should be considered in the differential
            diagnosis of spastic ataxia and hypomyelination.
REFERENCE   7  (bases 1 to 2768)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   8  (bases 1 to 2768)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (bases 1 to 2768)
  AUTHORS   Lee,S.H., Davison,J.A., Vidal,S.M. and Belouchi,A.
  TITLE     Cloning, expression and chromosomal location of NKX6B TO 10Q26, a
            region frequently deleted in brain tumors
  JOURNAL   Mamm Genome 12 (2), 157-162 (2001)
   PUBMED   11210186
REFERENCE   10 (bases 1 to 2768)
  AUTHORS   Chelban,V., Kaya,N., Alkuraya,F. and Houlden,H.
  TITLE     NKX6-2-Related Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285346
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL392043.21.
            
            On Nov 23, 2018 this sequence version replaced NM_177400.2.
            
            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 :: ERR279848.2657.1, ERR279831.5683.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368592.8/ ENSP00000357581.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-605               AL392043.21        108098-108702       c
            606-778             AL392043.21        107835-108007       c
            779-2768            AL392043.21        105736-107725       c
FEATURES             Location/Qualifiers
     source          1..2768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     gene            1..2768
                     /gene="NKX6-2"
                     /gene_synonym="GTX; NKX6.2; NKX6B; SPAX8"
                     /note="NK6 homeobox 2"
                     /db_xref="GeneID:84504"
                     /db_xref="HGNC:HGNC:19321"
                     /db_xref="MIM:605955"
     exon            1..605
                     /gene="NKX6-2"
                     /gene_synonym="GTX; NKX6.2; NKX6B; SPAX8"
                     /inference="alignment:Splign:2.1.0"
     CDS             200..1033
                     /gene="NKX6-2"
                     /gene_synonym="GTX; NKX6.2; NKX6B; SPAX8"
                     /note="glial and testis-specific homeobox protein;
                     homeobox 6B; NK homeobox family 6, B; homeobox protein
                     NK-6 homolog B; NK6 transcription factor related, locus 2"
                     /codon_start=1
                     /product="homeobox protein Nkx-6.2"
                     /protein_id="NP_796374.2"
                     /db_xref="CCDS:CCDS7670.1"
                     /db_xref="GeneID:84504"
                     /db_xref="HGNC:HGNC:19321"
                     /db_xref="MIM:605955"
                     /translation="MDTNRPGAFVLSSAPLAALHNMAEMKTSLFPYALQGPAGFKAPA
                     LGGLGAQLPLGTPHGISDILGRPVGAAGGGLLGGLPRLNGLASSAGVYFGPAAAVARG
                     YPKPLAELPGRPPIFWPGVVQGAPWRDPRLAGPAPAGGVLDKDGKKKHSRPTFSGQQI
                     FALEKTFEQTKYLAGPERARLAYSLGMTESQVKVWFQNRRTKWRKRHAVEMASAKKKQ
                     DSDAEKLKVGGSDAEDDDEYNRPLDPNSDDEKITRLLKKHKPSNLALVSPCGGGAGDA
                     L"
     exon            606..778
                     /gene="NKX6-2"
                     /gene_synonym="GTX; NKX6.2; NKX6B; SPAX8"
                     /inference="alignment:Splign:2.1.0"
     exon            779..2768
                     /gene="NKX6-2"
                     /gene_synonym="GTX; NKX6.2; NKX6B; SPAX8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1114..1119
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX6-2"
                     /gene_synonym="GTX; NKX6.2; NKX6B; SPAX8"
                     /note="hexamer: AATAAA"
     polyA_site      1156
                     /gene="NKX6-2"
                     /gene_synonym="GTX; NKX6.2; NKX6B; SPAX8"
                     /note="major polyA site"
     regulatory      2741..2746
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX6-2"
                     /gene_synonym="GTX; NKX6.2; NKX6B; SPAX8"
                     /note="hexamer: AATAAA"
     polyA_site      2768
                     /gene="NKX6-2"
                     /gene_synonym="GTX; NKX6.2; NKX6B; SPAX8"
                     /note="major polyA site"
ORIGIN      
        1 gctccgaccg gccccggagc cgccgccgcc gccgcccgcc cgcccgcccc gcgccggagc
       61 cgcccgcccg ccccccgcgc cccgcgcccc gcgctgcagc cgacgcccgc ccgggccgcg
      121 cgcaaacttc ccgggccggc gggcaggggc ggcggcggcg gggcccggat gggagcccgg
      181 gccggcggcg gcggcgccca tggacactaa ccgcccgggc gcgttcgtgc tgagcagtgc
      241 cccgctggcc gcgctgcaca acatggccga gatgaagacg tcgctgttcc cctacgcgct
      301 gcagggtccg gccggcttca aggcgcccgc gctggggggc ctgggcgcgc agctcccgct
      361 cgggaccccg cacggcatca gcgacatcct gggccggccc gtgggcgcgg cgggcggggg
      421 cctcctgggg gggctgcccc ggctcaacgg gctcgcgtcg tccgccggcg tttacttcgg
      481 gcccgcggcc gctgtggcgc gcggctaccc caagcccctg gccgagctgc cggggcgccc
      541 gcccatcttc tggcccggcg tggtgcaggg cgcgccctgg agggacccgc gtctggctgg
      601 cccggccccg gccggcggcg tcctggacaa ggacgggaag aagaagcact cgcgcccgac
      661 cttctcgggc cagcagatct tcgcgctgga gaaaaccttc gagcagacca agtacctggc
      721 gggcccggag cgcgcgcgtc tcgcctactc gctgggcatg accgagagcc aggtgaaggt
      781 ctggttccag aaccgccgga ccaagtggcg caagcggcac gcggtggaga tggcgtcggc
      841 caagaagaag caggactcgg acgccgagaa gctgaaggtg ggcggctcgg acgcggagga
      901 cgacgacgaa tacaaccggc ccctggaccc caactcggac gacgagaaga tcacgcggct
      961 gctcaagaag cacaaaccct cgaacttggc gctggtcagc ccgtgcggcg gcggcgcggg
     1021 ggacgccttg tgaggacccg cggggtgggg gcgaatctat ttttgcagaa tccgggggcg
     1081 gccccgggtg ggcgcgagtc gctttgtatc atcaataaat tatttaacgg gtccccgtcg
     1141 gagccgtcgc tccggagcct gcgccgcgtg tttcttccgt ctcgaacccg gagcgaggcg
     1201 gcccctcccc ggccccggct tcgcccctgc gcccgcctcg ggtcctccgg gttcccggtg
     1261 cggaggctgc gggccccggg caggcgcgag gaggcggcga aggcgcaggg aaggggcccg
     1321 gcccgcggga aggaaccgca gcgacagccg ccaggagccc gggacggagc cggggacgga
     1381 gcagcaggta cggcccggcc cgcctcgcct cggggcggat tcggacgcgc ttgggggttc
     1441 ccgaaagggc gggtgagccg cgtacccgcc tcgagtcccc gcgggaggtt tttcttcttc
     1501 cgttttcccg ctttggggcc acgtactcgt tgccaccggg cacccgttcc cgcttggccg
     1561 agggcttcgc tctgattatt tccaaagtcc ctctgcgcat cagcggatcc cataggcccg
     1621 ccctgggctc agccggtgga accgggtctg atccgctgca cggaggccct tcggtcacca
     1681 tcccgccaga tcttcccgcg gtggaaagca gtttcttccg aactaggacc gcaaagagaa
     1741 atccgaaata attccgcccg cggagcggcg gggcctcccg tgggtcacgc ggggtcaggg
     1801 agccggaggc cccctgggca aggcccgcag cgcccagccg ggggctcggg ggacccgtct
     1861 cctgccctga aatgccgcca gctccgcggg gctgtgactg cggctgacaa aacccctcca
     1921 gcctcccgca gcctctgtgg ccggggctgc ccatcgctgc atcttaatgg gcgtggctgt
     1981 tgagttttaa tttttaaaaa ttaaatgtaa ataatgatat cactgcggtg gtacgatttc
     2041 tcttggcatt tgcggaagcg ttaaagggaa atagaaaggg cttaaactcg gcgcgttttg
     2101 ttttaggctc ttagcagcct tctttacaag gaagcaactc gaagggcaga agcaacgctt
     2161 ttctgtgggg agcccctctc agctcagagc agaggggctt cttaaagttt tgaggaaggc
     2221 aaagcgttga tataatcccg ttttaaaatg ttgagggata aatcctttat tacagtagaa
     2281 agtccaaaag gctgtgtttc tcctctcaat gaacggctta gtgttttgtg acagcgtgtg
     2341 atacagtgaa attccaggat ttctaatgag cttgatctca aataacaggc tatacaggag
     2401 gccgctcccc tgagttagca tttcaaaggt ggcaggagaa gggaaaggaa gaaaaagcaa
     2461 cacgggacta ttttcaccac ggtcaatttt attgcttagg aaccagaccg gtcacttcca
     2521 aaggcccctc agaacgacca acagctgaaa cccgcggggc ggactccgtg ttgaaccgcg
     2581 gacagcggca accacagcag cgacacggac ctgtgcttcc accaagaaca gattccgcag
     2641 cggacagcag tcacttgcag tggtagtatt tatcccacac aaacacccag ctaatgcctt
     2701 cacccggtcc aggaactctg tagtgttcta aagtaaaatc aataaaacat acatttgtgt
     2761 ttcatcaa
//
