LOCUS       NM_032125               1596 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens transmembrane protein 222 (TMEM222), transcript
            variant 1, mRNA.
ACCESSION   NM_032125
VERSION     NM_032125.3
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 1596)
  AUTHORS   Polla,D.L., Farazi Fard,M.A., Tabatabaei,Z., Habibzadeh,P.,
            Levchenko,O.A., Nikuei,P., Makrythanasis,P., Hussain,M., von
            Hardenberg,S., Zeinali,S., Fallah,M.S., Schuurs-Hoeijmakers,J.H.M.,
            Shahzad,M., Fatima,F., Fatima,N., Kaat,L.D., Bruggenwirth,H.T.,
            Fleming,L.R., Condie,J., Ploski,R., Pollak,A., Pilch,J.,
            Demina,N.A., Chukhrova,A.L., Sergeeva,V.S., Venselaar,H.,
            Masri,A.T., Hamamy,H., Santoni,F.A., Linda,K., Ahmed,Z.M., Nadif
            Kasri,N., de Brouwer,A.P.M., Bergmann,A.K., Hethey,S., Yavarian,M.,
            Ansar,M., Riazuddin,S., Riazuddin,S., Silawi,M., Ruggeri,G.,
            Pirozzi,F., Eftekhar,E., Taghipour Sheshdeh,A., Bahramjahan,S.,
            Mirzaa,G.M., Lavrov,A.V., Antonarakis,S.E., Faghihi,M.A. and van
            Bokhoven,H.
  TITLE     Biallelic variants in TMEM222 cause a new autosomal recessive
            neurodevelopmental disorder
  JOURNAL   Genet Med 23 (7), 1246-1254 (2021)
   PUBMED   33824500
REFERENCE   2  (bases 1 to 1596)
  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 1596)
  AUTHORS   Lehner,B., Semple,J.I., Brown,S.E., Counsell,D., Campbell,R.D. and
            Sanderson,C.M.
  TITLE     Analysis of a high-throughput yeast two-hybrid system and its use
            to predict the function of intracellular proteins encoded within
            the human MHC class III region
  JOURNAL   Genomics 83 (1), 153-167 (2004)
   PUBMED   14667819
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC424669.1 and BC090039.1.
            
            On Aug 6, 2020 this sequence version replaced NM_032125.2.
            
            Transcript Variant: This variant (1) encodes a protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL136683.1, BC011579.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374076.9/ ENSP00000363189.4
            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
            1-25                DC424669.1         20-44
            26-507              DC424669.1         46-527
            508-1596            BC090039.1         571-1659
FEATURES             Location/Qualifiers
     source          1..1596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..1596
                     /gene="TMEM222"
                     /gene_synonym="C1orf160; NEDMOSBA"
                     /note="transmembrane protein 222"
                     /db_xref="GeneID:84065"
                     /db_xref="HGNC:HGNC:25363"
                     /db_xref="MIM:619469"
     exon            1..229
                     /gene="TMEM222"
                     /gene_synonym="C1orf160; NEDMOSBA"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..662
                     /gene="TMEM222"
                     /gene_synonym="C1orf160; NEDMOSBA"
                     /codon_start=1
                     /product="transmembrane protein 222"
                     /protein_id="NP_115501.2"
                     /db_xref="CCDS:CCDS297.2"
                     /db_xref="GeneID:84065"
                     /db_xref="HGNC:HGNC:25363"
                     /db_xref="MIM:619469"
                     /translation="MAEAEGSSLLLLPPPPPPPRMAEVEAPTAAETDMKQYQGSGGVA
                     MDVERSRFPYCVVWTPIPVLTWFFPIIGHMGICTSTGVIRDFAGPYFVSEDNMAFGKP
                     AKYWKLDPAQVYASGPNAWDTAVHDASEEYKHRMHNLCCDNCHSHVALALNLMRYNNS
                     TNWNMVTLCFFCLLYGKYVSVGAFVKTWLPFILLLGIILTVSLVFNLR"
     exon            230..314
                     /gene="TMEM222"
                     /gene_synonym="C1orf160; NEDMOSBA"
                     /inference="alignment:Splign:2.1.0"
     exon            315..346
                     /gene="TMEM222"
                     /gene_synonym="C1orf160; NEDMOSBA"
                     /inference="alignment:Splign:2.1.0"
     exon            347..443
                     /gene="TMEM222"
                     /gene_synonym="C1orf160; NEDMOSBA"
                     /inference="alignment:Splign:2.1.0"
     exon            444..574
                     /gene="TMEM222"
                     /gene_synonym="C1orf160; NEDMOSBA"
                     /inference="alignment:Splign:2.1.0"
     exon            575..1596
                     /gene="TMEM222"
                     /gene_synonym="C1orf160; NEDMOSBA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1577..1582
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM222"
                     /gene_synonym="C1orf160; NEDMOSBA"
                     /note="hexamer: AATAAA"
     polyA_site      1596
                     /gene="TMEM222"
                     /gene_synonym="C1orf160; NEDMOSBA"
                     /note="major polyA site"
ORIGIN      
        1 agagccgggg ccagtcggag cggggcgcgc gccgcatggc ggaagcggaa gggagttctc
       61 tgctcttgtt gccgccgccg ccacccccgc ccaggatggc ggaagtggag gcgccgacgg
      121 cggccgagac ggacatgaag caatatcaag gctccggcgg cgtcgccatg gatgtggaac
      181 ggagtcgctt cccctactgc gtggtgtgga cgcccatccc ggtgctcacg tggtttttcc
      241 ccatcatcgg ccacatgggc atctgcacat ccacaggagt cattcgggac ttcgcgggcc
      301 cctactttgt ctcagaggac aacatggcct ttggaaagcc tgccaagtac tggaagttgg
      361 accctgctca ggtctatgct agcgggccca acgcatggga cacggctgtg cacgacgcct
      421 ctgaggagta caagcaccgc atgcacaatc tctgctgtga caactgccac tcgcacgtgg
      481 cattggccct gaatctgatg cgctacaaca acagcaccaa ctggaatatg gtgacgctct
      541 gcttcttctg cctgctctac gggaagtacg tcagcgttgg ggccttcgtg aagacctggc
      601 tgcccttcat ccttctcctg ggcatcatcc tcaccgtcag cctggtcttt aacctccggt
      661 gatggctgct cggtggcccc acacccacca gggtcccgag gaaacagccg ccatcccttt
      721 tggttccaga tttttttctc ctcaccccaa aaggcagggt tgggcctgct gttgtggacc
      781 gggggtcggg gctggcagga tggaaggact gaggaccagc atgaagtggg ggtttgttgt
      841 ctccctgcct ctcagaagca ccctgtcccc tcctccccag gcctgtgact ccggccctgg
      901 aagccccttt gttcttctgt tgaaaggctt tggcttcccg ctgtagagct gctcccgcca
      961 ccacctgctg gggtcctgcc tcagcccagt gcccagtatg gggagaggag gacatttggg
     1021 ctcacctgtc aaggtggccc tgggaccaga gctggtccca gcatggggtg caccgggtac
     1081 acttaacgtg tctctataag ccaagttgct tcaggacctt caccactggc ctctagaatg
     1141 gtccagaggg gctggctggg tccctttgtc agactcctgc cggcagctgc cctgggggac
     1201 atgtgtgccc atctggcatc ctccagcccg tgcagtccgc tcttcactgt tccacggcct
     1261 cccagtgcct cccagcattg gacccatctc cccctgcagt ttgaggccag agaggtgagt
     1321 ggacctgaca agtgccagag taaccgtgta gacagagcag tgtagacagc actcagcccc
     1381 agccccaggt gtggacctca tgctggtgat ggctcccctg ggtggcctgc cagcacagcc
     1441 agtgccatca gggagctgaa ggggctgtcc cccacctaac tccagctccc ccttcacgtt
     1501 gtcaccaagg ccctgtgccg cccgcctcgc ccccctgctc tgtggattcc tttgggaagg
     1561 gctccctggg caggacaata aagagttttg actcca
//
