LOCUS       NM_005251               2900 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens forkhead box C2 (FOXC2), mRNA.
ACCESSION   NM_005251
VERSION     NM_005251.3
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 2900)
  AUTHORS   Wei,W., Li,B., Li,F., Sun,K., Jiang,X. and Xu,R.
  TITLE     Variants in FOXC1 and FOXC2 identified in patients with conotruncal
            heart defects
  JOURNAL   Genomics 116 (3), 110840 (2024)
   PUBMED   38580085
  REMARK    GeneRIF: Variants in FOXC1 and FOXC2 identified in patients with
            conotruncal heart defects.
REFERENCE   2  (bases 1 to 2900)
  AUTHORS   Yuan,H., Liang,Y., Hu,S., Chen,J., You,J., Jiang,J., Luo,M. and
            Zeng,M.
  TITLE     The role of transcription factor FOXA1/C2/M1/O3/P1/Q1 in breast
            cancer
  JOURNAL   Medicine (Baltimore) 103 (15), e37709 (2024)
   PUBMED   38608123
  REMARK    GeneRIF: The role of transcription factor FOXA1/C2/M1/O3/P1/Q1 in
            breast cancer.
REFERENCE   3  (bases 1 to 2900)
  AUTHORS   Qi,C., Liu,L., Wang,J. and Jin,Y.
  TITLE     Up-regulation of microRNA-183 reduces FOXO1 expression in gastric
            cancer patients with Helicobacter pylori infection
  JOURNAL   Histol Histopathol 38 (11), 1349-1357 (2023)
   PUBMED   36805538
  REMARK    GeneRIF: Up-regulation of microRNA-183 reduces FOXO1 expression in
            gastric cancer patients with Helicobacter pylori infection.
REFERENCE   4  (bases 1 to 2900)
  AUTHORS   Sun,L., Li,Y., Wang,H., Xiao,X., Luo,X., Yang,R., Li,J., Ma,Y.,
            Liu,Q., Tu,K. and Shi,Y.
  TITLE     FOXC2-AS1/FOXC2 axis mediates matrix stiffness-induced
            trans-differentiation of hepatic stellate cells into
            fibrosis-promoting myofibroblasts
  JOURNAL   Int J Biol Sci 19 (13), 4206-4222 (2023)
   PUBMED   37705741
  REMARK    GeneRIF: FOXC2-AS1/FOXC2 axis mediates matrix stiffness-induced
            trans-differentiation of hepatic stellate cells into
            fibrosis-promoting myofibroblasts.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2900)
  AUTHORS   Hoofnagle,M.H., Hess,A., Nalugo,M., Ghosh,S., Hughes,S.W.,
            Fuchs,A., Welsh,J.D., Kahn,M.L., Bochicchio,G.V., Randolph,G.J.,
            Leonard,J.M. and Turnbull,I.R.
  TITLE     Defects in vein valve PROX1/FOXC2 antithrombotic pathway in
            endothelial cells drive the hypercoagulable state induced by trauma
            and critical illness
  JOURNAL   J Trauma Acute Care Surg 95 (2), 197-204 (2023)
   PUBMED   37072887
  REMARK    GeneRIF: Defects in vein valve PROX1/FOXC2 antithrombotic pathway
            in endothelial cells drive the hypercoagulable state induced by
            trauma and critical illness.
REFERENCE   6  (bases 1 to 2900)
  AUTHORS   van Dongen,M.J., Cederberg,A., Carlsson,P., Enerback,S. and
            Wikstrom,M.
  TITLE     Solution structure and dynamics of the DNA-binding domain of the
            adipocyte-transcription factor FREAC-11
  JOURNAL   J Mol Biol 296 (2), 351-359 (2000)
   PUBMED   10669593
REFERENCE   7  (bases 1 to 2900)
  AUTHORS   Mangion,J., Rahman,N., Mansour,S., Brice,G., Rosbotham,J.,
            Child,A.H., Murday,V.A., Mortimer,P.S., Barfoot,R., Sigurdsson,A.,
            Edkins,S., Sarfarazi,M., Burnand,K., Evans,A.L., Nunan,T.O.,
            Stratton,M.R. and Jeffery,S.
  TITLE     A gene for lymphedema-distichiasis maps to 16q24.3
  JOURNAL   Am J Hum Genet 65 (2), 427-432 (1999)
   PUBMED   10417285
REFERENCE   8  (bases 1 to 2900)
  AUTHORS   Miura,N., Iida,K., Kakinuma,H., Yang,X.L. and Sugiyama,T.
  TITLE     Isolation of the mouse (MFH-1) and human (FKHL 14) mesenchyme fork
            head-1 genes reveals conservation of their gene and protein
            structures
  JOURNAL   Genomics 41 (3), 489-492 (1997)
   PUBMED   9169153
REFERENCE   9  (bases 1 to 2900)
  AUTHORS   Kaestner,K.H., Bleckmann,S.C., Monaghan,A.P., Schlondorff,J.,
            Mincheva,A., Lichter,P. and Schutz,G.
  TITLE     Clustered arrangement of winged helix genes fkh-6 and MFH-1:
            possible implications for mesoderm development
  JOURNAL   Development 122 (6), 1751-1758 (1996)
   PUBMED   8674414
REFERENCE   10 (bases 1 to 2900)
  AUTHORS   Mansour,S., Brice,G.W., Jeffery,S. and Mortimer,P.
  TITLE     Lymphedema-Distichiasis Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301630
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009108.10 and BC113439.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 16, 2018 this sequence version replaced NM_005251.2.
            
            Summary: This gene belongs to the forkhead family of transcription
            factors which is characterized by a distinct DNA-binding forkhead
            domain.  The specific function of this gene has not yet been
            determined; however, it may play a role in the development of
            mesenchymal tissues. [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 is intronless :: BC113439.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000649859.1/ ENSP00000497759.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-422               AC009108.10        76586-77007         c
            423-2105            BC113439.1         1-1683
            2106-2900           AC009108.10        74108-74902         c
FEATURES             Location/Qualifiers
     source          1..2900
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     gene            1..2900
                     /gene="FOXC2"
                     /gene_synonym="FKHL14; LD; MFH-1; MFH1"
                     /note="forkhead box C2"
                     /db_xref="GeneID:2303"
                     /db_xref="HGNC:HGNC:3801"
                     /db_xref="MIM:602402"
     exon            1..2900
                     /gene="FOXC2"
                     /gene_synonym="FKHL14; LD; MFH-1; MFH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             508..2013
                     /gene="FOXC2"
                     /gene_synonym="FKHL14; LD; MFH-1; MFH1"
                     /note="forkhead, Drosophila, homolog-like 14; forkhead box
                     C2 (MFH-1, mesenchyme forkhead 1); MFH-1,mesenchyme
                     forkhead 1; transcription factor FKH-14; mesenchyme fork
                     head protein 1; forkhead-related protein FKHL14"
                     /codon_start=1
                     /product="forkhead box protein C2"
                     /protein_id="NP_005242.1"
                     /db_xref="CCDS:CCDS10958.1"
                     /db_xref="GeneID:2303"
                     /db_xref="HGNC:HGNC:3801"
                     /db_xref="MIM:602402"
                     /translation="MQARYSVSDPNALGVVPYLSEQNYYRAAGSYGGMASPMGVYSGH
                     PEQYSAGMGRSYAPYHHHQPAAPKDLVKPPYSYIALITMAIQNAPEKKITLNGIYQFI
                     MDRFPFYRENKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGS
                     FLRRRRRFKKKDVSKEKEERAHLKEPPPAASKGAPATPHLADAPKEAEKKVVIKSEAA
                     SPALPVITKVETLSPESALQGSPRSAASTPAGSPDGSLPEHHAAAPNGLPGFSVENIM
                     TLRTSPPGGELSPGAGRAGLVVPPLALPYAAAPPAAYGQPCAQGLEAGAAGGYQCSMR
                     AMSLYTGAERPAHMCVPPALDEALSDHPSGPTSPLSALNLAAGQEGALAATGHHHQHH
                     GHHHPQAPPPPPAPQPQPTPQPGAAAAQAASWYLNHSGDLNHLPGHTFAAQQQTFPNV
                     REMFNSHRLGIENSTLGESQVSGNASCQLPYRSTPPLYRHAAPYSYDCTKY"
     regulatory      2871..2876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXC2"
                     /gene_synonym="FKHL14; LD; MFH-1; MFH1"
                     /note="hexamer: AATAAA"
     polyA_site      2900
                     /gene="FOXC2"
                     /gene_synonym="FKHL14; LD; MFH-1; MFH1"
                     /note="major polyA site"
ORIGIN      
        1 gaaacttttc ccaatcccta aaagggactt ggcctctttt tctgggctca gcggggcagc
       61 cgctcggacc ccggcgcgct gaccctcggg gctgccgatt cgctgggggc ttggagagcc
      121 tcctgcgccc ctcctcgcgc gggccgaggg tccacctggg tccccaggcc gcggcgtctc
      181 cgctgggtcc gcggccgccc gcctgcccgc gctgccgccg ccgggtcctg gagccagcga
      241 ggagcggggc cggcgctgcg cttgcccggg gcgcgccctc caggatgccg atccgcccgg
      301 tccgctgaaa gcgcgcgccc ctgctcggcc cgagcgccgc cgcccgcgca ccctcgcccc
      361 ggaggctgcc aggagcccgg ggccgcccct cccgctcccc tcctctcccc ctctggctct
      421 ctcgcgctct ctcgctctca gggcccccct cgctcccccg gccgcagtcc gtgcgcgagg
      481 gcgccggcga gccgtctcgg aagcagcatg caggcgcgct actccgtgtc cgaccccaac
      541 gccctgggag tggtgcccta cctgagcgag cagaattact accgggctgc gggcagctac
      601 ggcggcatgg ccagccccat gggcgtctat tccggccacc cggagcagta cagcgcgggg
      661 atgggccgct cctacgcgcc ctaccaccac caccagcccg cggcgcctaa ggacctggtg
      721 aagccgccct acagctacat cgcgctcatc accatggcca tccagaacgc gcccgagaag
      781 aagatcacct tgaacggcat ctaccagttc atcatggacc gcttcccctt ctaccgggag
      841 aacaagcagg gctggcagaa cagcatccgc cacaacctct cgctcaacga gtgcttcgtc
      901 aaggtgcccc gcgacgacaa gaagcccggc aagggcagtt actggaccct ggacccggac
      961 tcctacaaca tgttcgagaa cggcagcttc ctgcggcgcc ggcggcgctt caaaaagaag
     1021 gacgtgtcca aggagaagga ggagcgggcc cacctcaagg agccgccccc ggcggcgtcc
     1081 aagggcgccc cggccacccc ccacctagcg gacgccccca aggaggccga gaagaaggtg
     1141 gtgatcaaga gcgaggcggc gtccccggcg ctgccggtca tcaccaaggt ggagacgctg
     1201 agccccgaga gcgcgctgca gggcagcccg cgcagcgcgg cctccacgcc cgccggctcc
     1261 cccgacggct cgctgccgga gcaccacgcc gcggcgccca acgggctgcc tggcttcagc
     1321 gtggagaaca tcatgaccct gcgaacgtcg ccgccgggcg gagagctgag cccgggggcc
     1381 ggacgcgcgg gcctggtggt gccgccgctg gcgctgccct acgccgccgc gccgcccgcc
     1441 gcctacggcc agccgtgcgc tcagggcctg gaggccgggg ccgccggggg ctaccagtgc
     1501 agcatgcgag cgatgagcct gtacaccggg gccgagcggc cggcgcacat gtgcgtcccg
     1561 cccgccctgg acgaggccct ctcggaccac ccgagcggcc ccacgtcgcc cctgagcgct
     1621 ctcaacctcg ccgccggcca ggagggcgcg ctcgccgcca cgggccacca ccaccagcac
     1681 cacggccacc accacccgca ggcgccgccg cccccgccgg ctccccagcc ccagccgacg
     1741 ccgcagcccg gggccgccgc ggcgcaggcg gcctcctggt atctcaacca cagcggggac
     1801 ctgaaccacc tccccggcca cacgttcgcg gcccagcagc aaactttccc caacgtgcgg
     1861 gagatgttca actcccaccg gctggggatt gagaactcga ccctcgggga gtcccaggtg
     1921 agtggcaatg ccagctgcca gctgccctac agatccacgc cgcctctcta tcgccacgca
     1981 gccccctact cctacgactg cacgaaatac tgacgtgtcc cgggacctcc cctccccggc
     2041 ccgctccggc ttcgcttccc agccccgacc caaccagaca attaaggggc tgcagagacg
     2101 caaaaaagaa acaaaacatg tccaccaacc ttttctcaga cccgggagca gagagcgggc
     2161 acgctagccc ccagccgtct gtgaagagcg caggtaactt taattcgccg ccccgtttct
     2221 gggatcccag gaaacccctc caaagggacg cagcccaaca aaatgagtat tgatcttaaa
     2281 atccccctcc cctaccagga cggctgtgct gtgctcgacc tgagctttca aaagttaagt
     2341 tatggaccaa atcccatagc gagcccctag tgactttctg taggggtccc cataggtgta
     2401 tgggggtctc tatagataat atatgtgctg tgtgtaattt taaatttctc caaccgtgct
     2461 gtacaaatgt gtggatttgt aatcaggcta ttttgttgtt gttgttgttg ttcagagcca
     2521 ttaatataat atttaaagtt gagttcactg gataagtttt tcatcttgcc caaccatttc
     2581 taactgccaa attgaattca agaaaccgat gtgggttttg tttcctgtac aattatgaga
     2641 tataattctt tttcccattg taggtctttt acaaaacaag aaaataattt atttttttgt
     2701 tggtggataa agaagtcaag tatctgatac tttttattta caaagtgtga tggttttgta
     2761 tagtaggttc caccctgagt attcctaaaa gaaaaaaaaa aaaaaagctt aaaaactcta
     2821 acttcatctg tgtttgtctt acgtggtctt aatcgttgta cttaccttaa aataaaccca
     2881 tgttgttttt tctgcccaaa
//
