LOCUS       NM_001271458            1090 bp    mRNA    linear   PRI 12-JUN-2024
DEFINITION  Homo sapiens POU class 2 homeobox associating factor 3 (POU2AF3),
            transcript variant 1, mRNA.
ACCESSION   NM_001271458
VERSION     NM_001271458.2
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 1090)
  AUTHORS   Zhou,C., Huang,H., Wang,Y., Sendinc,E. and Shi,Y.
  TITLE     Selective regulation of tuft cell-like small cell lung cancer by
            novel transcriptional co-activators C11orf53 and COLCA2
  JOURNAL   Cell Discov 8 (1), 112 (2022)
   PUBMED   36253350
  REMARK    GeneRIF: COLCA2 (POU2AF3) and likely C11orf53 (POU2AF2) function as
            transcriptional co-activators of POU2F3 in tuft cell-like small
            cell lung cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1090)
  AUTHORS   Wu,X.S., He,X.Y., Ipsaro,J.J., Huang,Y.H., Preall,J.B., Ng,D.,
            Shue,Y.T., Sage,J., Egeblad,M., Joshua-Tor,L. and Vakoc,C.R.
  TITLE     OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell
            lineage
  JOURNAL   Nature 607 (7917), 169-175 (2022)
   PUBMED   35576971
  REMARK    GeneRIF: OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft
            cell lineage.
REFERENCE   3  (bases 1 to 1090)
  AUTHORS   Hitomi,Y., Aiba,Y., Kawai,Y., Kojima,K., Ueno,K., Nishida,N.,
            Kawashima,M., Gervais,O., Khor,S.S., Nagasaki,M., Tokunaga,K.,
            Nakamura,M. and Tsuiji,M.
  TITLE     rs1944919 on chromosome 11q23.1 and its effector genes
            COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis
  JOURNAL   Sci Rep 11 (1), 4557 (2021)
   PUBMED   33633225
  REMARK    GeneRIF: rs1944919 on chromosome 11q23.1 and its effector genes
            COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1090)
  AUTHORS   Zhang,B., Jia,W.H., Matsuda,K., Kweon,S.S., Matsuo,K., Xiang,Y.B.,
            Shin,A., Jee,S.H., Kim,D.H., Cai,Q., Long,J., Shi,J., Wen,W.,
            Yang,G., Zhang,Y., Li,C., Li,B., Guo,Y., Ren,Z., Ji,B.T., Pan,Z.Z.,
            Takahashi,A., Shin,M.H., Matsuda,F., Gao,Y.T., Oh,J.H., Kim,S.,
            Ahn,Y.O., Chan,A.T., Chang-Claude,J., Slattery,M.L., Gruber,S.B.,
            Schumacher,F.R., Stenzel,S.L., Casey,G., Kim,H.R., Jeong,J.Y.,
            Park,J.W., Li,H.L., Hosono,S., Cho,S.H., Kubo,M., Shu,X.O.,
            Zeng,Y.X. and Zheng,W.
  CONSRTM   Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO);
            Colorectal Transdisciplinary (CORECT) Study; Colon Cancer Family
            Registry (CCFR)
  TITLE     Large-scale genetic study in East Asians identifies six new loci
            associated with colorectal cancer risk
  JOURNAL   Nat Genet 46 (6), 533-542 (2014)
   PUBMED   24836286
REFERENCE   5  (bases 1 to 1090)
  AUTHORS   Peltekova,V.D., Lemire,M., Qazi,A.M., Zaidi,S.H., Trinh,Q.M.,
            Bielecki,R., Rogers,M., Hodgson,L., Wang,M., D'Souza,D.J.,
            Zandi,S., Chong,T., Kwan,J.Y., Kozak,K., De Borja,R., Timms,L.,
            Rangrej,J., Volar,M., Chan-Seng-Yue,M., Beck,T., Ash,C., Lee,S.,
            Wang,J., Boutros,P.C., Stein,L.D., Dick,J.E., Gryfe,R.,
            McPherson,J.D., Zanke,B.W., Pollett,A., Gallinger,S. and
            Hudson,T.J.
  TITLE     Identification of genes expressed by immune cells of the colon that
            are regulated by colorectal cancer-associated variants
  JOURNAL   Int J Cancer 134 (10), 2330-2341 (2014)
   PUBMED   24154973
  REMARK    GeneRIF: Data implicate COLCA1 and COLCA2 in the pathogenesis of
            colon cancer.
REFERENCE   6  (bases 1 to 1090)
  AUTHORS   Peters,U., Hutter,C.M., Hsu,L., Schumacher,F.R., Conti,D.V.,
            Carlson,C.S., Edlund,C.K., Haile,R.W., Gallinger,S., Zanke,B.W.,
            Lemire,M., Rangrej,J., Vijayaraghavan,R., Chan,A.T., Hazra,A.,
            Hunter,D.J., Ma,J., Fuchs,C.S., Giovannucci,E.L., Kraft,P., Liu,Y.,
            Chen,L., Jiao,S., Makar,K.W., Taverna,D., Gruber,S.B., Rennert,G.,
            Moreno,V., Ulrich,C.M., Woods,M.O., Green,R.C., Parfrey,P.S.,
            Prentice,R.L., Kooperberg,C., Jackson,R.D., Lacroix,A.Z.,
            Caan,B.J., Hayes,R.B., Berndt,S.I., Chanock,S.J., Schoen,R.E.,
            Chang-Claude,J., Hoffmeister,M., Brenner,H., Frank,B., Bezieau,S.,
            Kury,S., Slattery,M.L., Hopper,J.L., Jenkins,M.A., Le Marchand,L.,
            Lindor,N.M., Newcomb,P.A., Seminara,D., Hudson,T.J., Duggan,D.J.,
            Potter,J.D. and Casey,G.
  TITLE     Meta-analysis of new genome-wide association studies of colorectal
            cancer risk
  JOURNAL   Hum Genet 131 (2), 217-234 (2012)
   PUBMED   21761138
REFERENCE   7  (bases 1 to 1090)
  AUTHORS   He,J., Wilkens,L.R., Stram,D.O., Kolonel,L.N., Henderson,B.E.,
            Wu,A.H., Le Marchand,L. and Haiman,C.A.
  TITLE     Generalizability and epidemiologic characterization of eleven
            colorectal cancer GWAS hits in multiple populations
  JOURNAL   Cancer Epidemiol Biomarkers Prev 20 (1), 70-81 (2011)
   PUBMED   21071539
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1090)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1090)
  AUTHORS   Pittman,A.M., Webb,E., Carvajal-Carmona,L., Howarth,K., Di
            Bernardo,M.C., Broderick,P., Spain,S., Walther,A., Price,A.,
            Sullivan,K., Twiss,P., Fielding,S., Rowan,A., Jaeger,E.,
            Vijayakrishnan,J., Chandler,I., Penegar,S., Qureshi,M., Lubbe,S.,
            Domingo,E., Kemp,Z., Barclay,E., Wood,W., Martin,L., Gorman,M.,
            Thomas,H., Peto,J., Bishop,T., Gray,R., Maher,E.R., Lucassen,A.,
            Kerr,D., Evans,G.R., van Wezel,T., Morreau,H., Wijnen,J.T.,
            Hopper,J.L., Southey,M.C., Giles,G.G., Severi,G., Castellvi-Bel,S.,
            Ruiz-Ponte,C., Carracedo,A., Castells,A., Forsti,A., Hemminki,K.,
            Vodicka,P., Naccarati,A., Lipton,L., Ho,J.W., Cheng,K.K.,
            Sham,P.C., Luk,J., Agundez,J.A., Ladero,J.M., de la Hoya,M.,
            Caldes,T., Niittymaki,I., Tuupanen,S., Karhu,A., Aaltonen,L.A.,
            Cazier,J.B., Tomlinson,I.P. and Houlston,R.S.
  CONSRTM   CORGI Consortium; EPICOLON Consortium
  TITLE     Refinement of the basis and impact of common 11q23.1 variation to
            the risk of developing colorectal cancer
  JOURNAL   Hum Mol Genet 17 (23), 3720-3727 (2008)
   PUBMED   18753146
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 1090)
  AUTHORS   Tenesa,A., Farrington,S.M., Prendergast,J.G., Porteous,M.E.,
            Walker,M., Haq,N., Barnetson,R.A., Theodoratou,E., Cetnarskyj,R.,
            Cartwright,N., Semple,C., Clark,A.J., Reid,F.J., Smith,L.A.,
            Kavoussanakis,K., Koessler,T., Pharoah,P.D., Buch,S.,
            Schafmayer,C., Tepel,J., Schreiber,S., Volzke,H., Schmidt,C.O.,
            Hampe,J., Chang-Claude,J., Hoffmeister,M., Brenner,H.,
            Wilkening,S., Canzian,F., Capella,G., Moreno,V., Deary,I.J.,
            Starr,J.M., Tomlinson,I.P., Kemp,Z., Howarth,K.,
            Carvajal-Carmona,L., Webb,E., Broderick,P., Vijayakrishnan,J.,
            Houlston,R.S., Rennert,G., Ballinger,D., Rozek,L., Gruber,S.B.,
            Matsuda,K., Kidokoro,T., Nakamura,Y., Zanke,B.W., Greenwood,C.M.,
            Rangrej,J., Kustra,R., Montpetit,A., Hudson,T.J., Gallinger,S.,
            Campbell,H. and Dunlop,M.G.
  TITLE     Genome-wide association scan identifies a colorectal cancer
            susceptibility locus on 11q23 and replicates risk loci at 8q24 and
            18q21
  JOURNAL   Nat Genet 40 (5), 631-637 (2008)
   PUBMED   18372901
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002448.3.
            
            On Apr 6, 2021 this sequence version replaced NM_001271458.1.
            
            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 :: KF740511.1, HY114242.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610738.6/ ENSP00000484135.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                AP002448.3         129615-129657
            44-138              AP002448.3         131596-131690
            139-193             AP002448.3         135997-136051
            194-423             AP002448.3         137463-137692
            424-1090            AP002448.3         139138-139804
FEATURES             Location/Qualifiers
     source          1..1090
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     gene            1..1090
                     /gene="POU2AF3"
                     /gene_synonym="C11orf93; CASC13; COLCA2; LOH11CR1G;
                     OCA-T2"
                     /note="POU class 2 homeobox associating factor 3"
                     /db_xref="GeneID:120376"
                     /db_xref="HGNC:HGNC:26978"
                     /db_xref="MIM:615694"
     exon            1..43
                     /gene="POU2AF3"
                     /gene_synonym="C11orf93; CASC13; COLCA2; LOH11CR1G;
                     OCA-T2"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..792
                     /gene="POU2AF3"
                     /gene_synonym="C11orf93; CASC13; COLCA2; LOH11CR1G;
                     OCA-T2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cancer susceptibility candidate 13; colorectal cancer
                     associated two; cancer susceptibility candidate protein
                     13; colorectal cancer-associated protein 2; colorectal
                     cancer associated 2"
                     /codon_start=1
                     /product="POU class 2 homeobox associating factor 3
                     isoform 1"
                     /protein_id="NP_001258387.1"
                     /db_xref="CCDS:CCDS73378.1"
                     /db_xref="GeneID:120376"
                     /db_xref="HGNC:HGNC:26978"
                     /db_xref="MIM:615694"
                     /translation="MSEKPKVYQGVRVKITVKELLQQRRAHQAASGGTRSGGSSVHLS
                     DPVAPSSAGLYFEPEPISSTPNYLQRGEFSSCVSCEENSSCLDQIFDSYLQTEMHPEP
                     LLNSTQSAPHHFPDSFQATPFCFNQSLIPGSPSNSSILSGSLDYSYSPVQLPSYAPEN
                     YNSPASLDTRTCGYPPEDHSYQHLSSHAQYSCFSSATTSICYCASCEAEDLDALQAAE
                     YFYPSTDCVDFAPSAAATSDFYKRETNCDICYS"
     exon            44..138
                     /gene="POU2AF3"
                     /gene_synonym="C11orf93; CASC13; COLCA2; LOH11CR1G;
                     OCA-T2"
                     /inference="alignment:Splign:2.1.0"
     exon            139..193
                     /gene="POU2AF3"
                     /gene_synonym="C11orf93; CASC13; COLCA2; LOH11CR1G;
                     OCA-T2"
                     /inference="alignment:Splign:2.1.0"
     exon            194..423
                     /gene="POU2AF3"
                     /gene_synonym="C11orf93; CASC13; COLCA2; LOH11CR1G;
                     OCA-T2"
                     /inference="alignment:Splign:2.1.0"
     exon            424..1090
                     /gene="POU2AF3"
                     /gene_synonym="C11orf93; CASC13; COLCA2; LOH11CR1G;
                     OCA-T2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1072..1077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POU2AF3"
                     /gene_synonym="C11orf93; CASC13; COLCA2; LOH11CR1G;
                     OCA-T2"
                     /note="hexamer: AATAAT"
     polyA_site      1090
                     /gene="POU2AF3"
                     /gene_synonym="C11orf93; CASC13; COLCA2; LOH11CR1G;
                     OCA-T2"
                     /note="major polyA site"
ORIGIN      
        1 agcatccagc caccgaccca gctcctgctg accacgatgt cggaaaaacc gaaggtgtat
       61 caaggtgtcc gagtgaagat cacagtgaag gagctgctgc agcaaagacg ggcacaccag
      121 gcggcctccg ggggaacccg gtccggaggc agcagtgtcc acctttcaga cccagttgca
      181 ccatcttctg caggactgta ttttgagcct gaaccaattt cttccacgcc caattatttg
      241 caacggggag aattttccag ttgtgtttca tgtgaagaaa actcaagctg cctcgaccag
      301 atctttgatt cctaccttca gacagagatg cacccggagc ctttgctcaa ttccacacaa
      361 agtgctccac accatttccc agacagcttc caggccaccc ctttctgctt taaccagagc
      421 ctgatcccag gatcaccttc aaattcctcc attctctctg gctccttaga ctacagttac
      481 tcgccagtgc agctgccttc atatgctcca gagaattaca attcccctgc ttctctggac
      541 accagaacct gtggctaccc cccagaagac cattcctacc aacacttgtc ctcacacgcc
      601 cagtacagct gcttctcctc ggccaccacc tccatctgct actgcgcatc gtgtgaggca
      661 gaggacttgg atgctctcca ggcagcagag tacttctacc cgagcacaga ctgtgtggac
      721 tttgccccct cagcagccgc caccagtgat ttctataaga gggaaacaaa ctgtgacatc
      781 tgctatagtt aatagaaatt acagtaattc agaacatggc atgggtatat ctatttttct
      841 accacgtcta gatgacactg caaaatatgc aacttggtaa cacaatatcc caagcacagt
      901 ttacatgtca ctatttccaa ttttctgatg ctaagcattc atatgaagtc ctcagacccg
      961 gtcacagcgc cactcctact ttgtatgctc atagtttaaa tttttgtagg aaactttcaa
     1021 ttgttttact ttttgtataa cgaacaaatg ctgtctcctt ttttactaat aaataatttt
     1081 gtattactaa
//
