LOCUS       NM_001143959            1097 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens chromosome 2 open reading frame 74 (C2orf74),
            transcript variant 1, mRNA.
ACCESSION   NM_001143959
VERSION     NM_001143959.4
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 1097)
  AUTHORS   Albarry,M.A., Latif,M., Alreheli,A.Q., Awadh,M.A., Almatrafi,A.M.,
            Albalawi,A.M. and Basit,S.
  TITLE     Frameshift variant in MITF gene in a large family with Waardenburg
            syndrome type II and a co-segregation of a C2orf74 variant
  JOURNAL   PLoS One 16 (2), e0246607 (2021)
   PUBMED   33571247
  REMARK    GeneRIF: Frameshift variant in MITF gene in a large family with
            Waardenburg syndrome type II and a co-segregation of a C2orf74
            variant.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1097)
  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   3  (bases 1 to 1097)
  AUTHORS   Kenny,E.E., Pe'er,I., Karban,A., Ozelius,L., Mitchell,A.A.,
            Ng,S.M., Erazo,M., Ostrer,H., Abraham,C., Abreu,M.T., Atzmon,G.,
            Barzilai,N., Brant,S.R., Bressman,S., Burns,E.R., Chowers,Y.,
            Clark,L.N., Darvasi,A., Doheny,D., Duerr,R.H., Eliakim,R.,
            Giladi,N., Gregersen,P.K., Hakonarson,H., Jones,M.R., Marder,K.,
            McGovern,D.P., Mulle,J., Orr-Urtreger,A., Proctor,D.D., Pulver,A.,
            Rotter,J.I., Silverberg,M.S., Ullman,T., Warren,S.T., Waterman,M.,
            Zhang,W., Bergman,A., Mayer,L., Katz,S., Desnick,R.J., Cho,J.H. and
            Peter,I.
  TITLE     A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests
            novel susceptibility loci
  JOURNAL   PLoS Genet 8 (3), e1002559 (2012)
   PUBMED   22412388
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016747.7.
            
            On Jun 27, 2020 this sequence version replaced NM_001143959.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.202860.1,
                                           SRR5189664.169698.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000432605.3/
                                                ENSP00000402915.2
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-133               AC016747.7         106589-106721
            134-327             AC016747.7         106817-107010
            328-441             AC016747.7         107243-107356
            442-622             AC016747.7         107453-107633
            623-1097            AC016747.7         108755-109229
FEATURES             Location/Qualifiers
     source          1..1097
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p15"
     gene            1..1097
                     /gene="C2orf74"
                     /note="chromosome 2 open reading frame 74"
                     /db_xref="GeneID:339804"
                     /db_xref="HGNC:HGNC:34439"
     exon            1..133
                     /gene="C2orf74"
                     /inference="alignment:Splign:2.1.0"
     exon            134..327
                     /gene="C2orf74"
                     /inference="alignment:Splign:2.1.0"
     CDS             233..796
                     /gene="C2orf74"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C2orf74"
                     /codon_start=1
                     /product="uncharacterized protein C2orf74 isoform 1"
                     /protein_id="NP_001137431.2"
                     /db_xref="CCDS:CCDS46297.1"
                     /db_xref="GeneID:339804"
                     /db_xref="HGNC:HGNC:34439"
                     /translation="MSFETTAITFFIILLICLICILLLLVVFLYKCFQGRKGKETKKV
                     PCTDANGGVDCAAAKVVTSNPEDHERILMQVMNLNVPMRPGILVQRQSKEVLATPLEN
                     RRDMEAEEENQINEKQEPENAGETGQEEDDGLQKIHTSVTRTPSVVESQKRPLKGVTF
                     SREVIVVDLGNEYPTPRSYTREHKERK"
     exon            328..441
                     /gene="C2orf74"
                     /inference="alignment:Splign:2.1.0"
     exon            442..622
                     /gene="C2orf74"
                     /inference="alignment:Splign:2.1.0"
     exon            623..1097
                     /gene="C2orf74"
                     /inference="alignment:Splign:2.1.0"
     regulatory      982..987
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2orf74"
                     /note="hexamer: AATATA"
     polyA_site      1005
                     /gene="C2orf74"
     regulatory      1072..1077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2orf74"
                     /note="hexamer: AATAAA"
     polyA_site      1097
                     /gene="C2orf74"
                     /note="major polyA site"
ORIGIN      
        1 gattcctctc tcctctgggt cctgatagtt tttggggtga gggaggtgag ctgcgtgatc
       61 acacatgtcc cagctcagtc tcccctctgg ccacctcagc ccccaccaca gttatggaga
      121 gaaattagcc agtaaaactt aaagaacaag agaactgcat tcaaattgag ctggaaaaga
      181 atatttggac agtctgtgat tgtgagagtg gatgagtctt ctagctaaac ctatgagctt
      241 tgaaaccaca gcaatcactt tcttcatcat ccttctaatt tgcctcattt gcatcctcct
      301 cttattggtg gtttttttat ataaatgttt ccaaggcagg aaaggtaaag agacaaagaa
      361 agtgccttgt acagatgcaa acggaggtgt agactgtgca gctgccaaag tggtgacaag
      421 caatccagag gaccatgaaa ggatcttaat gcaagtcatg aacttgaatg tgccgatgag
      481 gcctggcatt cttgtccaga gacagagtaa ggaagtgttg gccacaccct tagaaaacag
      541 aagggacatg gaggcagaag aggagaacca aataaatgag aagcaagagc ctgagaatgc
      601 tggagaaact ggtcaagaag aggatgatgg tttgcagaaa atacacacat ctgtcactag
      661 aactccttca gttgttgaaa gccaaaaaag acctttaaaa ggagtgacat tttctaggga
      721 ggtaattgtt gtggatcttg ggaatgaata ccctacacct cgaagctata ctcgagaaca
      781 taaagagagg aaatgaagct caaaaaaggg taagagtgaa agaaaatgta acgtttgact
      841 aacgttgaaa gactgagggt acaaaatcat gttgaaacaa caaaacaatg gggaattaag
      901 caaataaaga tattatttta cctttgtgca gaaaggagtg agccatgtgc aaaattctgt
      961 aagtaaaata cttagagctt gaatataatt ttttaaaaat tcaaatctga gttcaagaaa
     1021 ttgattgtat tgcccttaaa actatctact caaacactgt tctggcatgt gaataaagtg
     1081 atttttgttt gtacaaa
//
