LOCUS       NM_152261               3228 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transmembrane protein 263 (TMEM263), transcript
            variant 2, mRNA.
ACCESSION   NM_152261
VERSION     NM_152261.4
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 3228)
  AUTHORS   Mohajeri,M.S.A., Eslahi,A., Khazaii,Z., Moradi,M.R., Pazhoomand,R.,
            Farrokhi,S., Feizabadi,M.H., Alizadeh,F. and Mojarrad,M.
  TITLE     TMEM263: a novel candidate gene implicated in human autosomal
            recessive severe lethal skeletal dysplasia
  JOURNAL   Hum Genomics 15 (1), 42 (2021)
   PUBMED   34238371
  REMARK    GeneRIF: TMEM263: a novel candidate gene implicated in human
            autosomal recessive severe lethal skeletal dysplasia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3228)
  AUTHORS   Wu,Z., Derks,M.F.L., Dibbits,B., Megens,H.J., Groenen,M.A.M. and
            Crooijmans,R.P.M.A.
  TITLE     A Novel Loss-of-Function Variant in Transmembrane Protein 263
            (TMEM263) of Autosomal Dwarfism in Chicken
  JOURNAL   Front Genet 9, 193 (2018)
   PUBMED   29930570
  REMARK    Erratum:[Front Genet. 2024 Jan 08;14:1349789. doi:
            10.3389/fgene.2023.1349789.. PMID: 38259620]
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB091654.1, BC020522.1, AL117658.1 and BM979283.1.
            
            On Nov 23, 2018 this sequence version replaced NM_152261.3.
            
            Transcript Variant: This variant (2) contains an alternate exon in
            the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode
            isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK001731.1, SRR1803612.189634.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280756.9/ ENSP00000280756.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                DB091654.1         186-205
            21-2070             BC020522.1         1-2050
            2071-2638           AL117658.1         177-744
            2639-3177           BC020522.1         2617-3155
            3178-3228           BM979283.1         21-71               c
FEATURES             Location/Qualifiers
     source          1..3228
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     gene            1..3228
                     /gene="TMEM263"
                     /gene_synonym="C12orf23"
                     /note="transmembrane protein 263"
                     /db_xref="GeneID:90488"
                     /db_xref="HGNC:HGNC:28281"
     exon            1..159
                     /gene="TMEM263"
                     /gene_synonym="C12orf23"
                     /inference="alignment:Splign:2.1.0"
     exon            160..227
                     /gene="TMEM263"
                     /gene_synonym="C12orf23"
                     /inference="alignment:Splign:2.1.0"
     exon            228..297
                     /gene="TMEM263"
                     /gene_synonym="C12orf23"
                     /inference="alignment:Splign:2.1.0"
     CDS             234..584
                     /gene="TMEM263"
                     /gene_synonym="C12orf23"
                     /note="isoform a is encoded by transcript variant 2;
                     UPF0444 transmembrane protein C12orf23"
                     /codon_start=1
                     /product="transmembrane protein 263 isoform a"
                     /protein_id="NP_689474.1"
                     /db_xref="CCDS:CCDS9110.1"
                     /db_xref="GeneID:90488"
                     /db_xref="HGNC:HGNC:28281"
                     /translation="MNQTDKNQQEIPSYLNDEPPEGSMKDHPQQQPGMLSRVTGGIFS
                     VTKGAVGATIGGVAWIGGKSLEVTKTAVTTVPSMGIGLVKGGVSAVAGGVTAVGSAVV
                     NKVPLTGKKKDKSD"
     exon            298..3228
                     /gene="TMEM263"
                     /gene_synonym="C12orf23"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3155..3160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM263"
                     /gene_synonym="C12orf23"
                     /note="hexamer: AATAAA"
     polyA_site      3177
                     /gene="TMEM263"
                     /gene_synonym="C12orf23"
                     /note="major polyA site"
     regulatory      3207..3212
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM263"
                     /gene_synonym="C12orf23"
                     /note="hexamer: AATAAA"
     polyA_site      3228
                     /gene="TMEM263"
                     /gene_synonym="C12orf23"
                     /note="major polyA site"
ORIGIN      
        1 acagtcttcc agctccacat cctgagagga cgcctctgga gccgcgactg cccggggttg
       61 tgccggccgc cgctgccgcc caggccgcct cagctctcct ctgcgccggc ccgctcactc
      121 cgcccggccc cagccctagc gctggccgcg accccggcgc ctttgaaact tctgctggtg
      181 tgagtgccct caggggttcc ccaggaatat cgatacaaca ccaacaggag atcatgaatc
      241 agacagataa aaatcaacaa gaaatcccat cataccttaa tgatgaacca ccagaaggtt
      301 caatgaaaga tcacccacag cagcagccag gcatgttgtc ccgtgtgact gggggtatct
      361 tcagtgttac aaagggagct gttggtgcca ccattggtgg tgtggcttgg attggtggaa
      421 agagtctgga agtgaccaaa acagctgtta caactgtgcc ttccatggga atagggctgg
      481 tgaaaggggg tgtctctgct gtggctggag gtgttacagc tgttgggtct gctgttgtaa
      541 acaaagtgcc cttaacagga aagaagaaag acaaatctga ctgaaatata gagatacact
      601 tgcgctccac agcactgtaa tgccagtggc attgaattgc taaattatgg actacaacca
      661 agtcaactgt tttggacgtt tatcttctaa actgctgtgt tgaaagtatt gatgactggc
      721 tttcatctaa aaagaagaga ccaatacgag cacagtatat gaaggtttct catacttaag
      781 ttccaggttt ttatctggta aaatgttaca cttactcggt tgtaactgaa gatatggtat
      841 gtttgaatat ttactataag tctttcagtt tgactaaaaa tgtgaaagtt gaatttagta
      901 gatgatcttc acagttccat atgtataatg tgccaggtaa ctcacctgcc ccttaagaag
      961 ggaaccttga attacataag ccgtaccttt gatgtgccta atagtttcag atgtcttagt
     1021 tttttataac catagttgat taggccaaga ggcattcatt tcttatttaa gctggcaaaa
     1081 ttagcaggaa ttagagaagt ttaaaaagat aaatggtttt atgataatgt taaccatctt
     1141 ttgttagtaa atatgcgttc tattatttta atcattgatg ccttacaaaa gaaaacatct
     1201 tttctaatac cctgaatatg tgctgttctt agaatcatct atggattctt ttaaaggttg
     1261 tttgtgaaat tagttttccc tttttagaat ctcaggagta gtggggtaaa gacatttcct
     1321 gctgtcagtg gataagacag agcttgttaa ctgttttggc agtagttaaa atcaaattgt
     1381 acacttctca gcctgggttc atgcttcatc attaatacac ctcacagtgc ctaaggaaca
     1441 tttacttact ggtcagaagg tattttggaa gagtttcata ttaaggagga acaaataata
     1501 attttaagtt cttaaaaatt acctaaaaca ccccaaatat aaaaagaagc cttcacacct
     1561 attctgtctt taggatgtct taaattatta gcagtactcc ttttttaaaa acactgtaaa
     1621 agtaaccaca aatatgtgag gacttactat tttaaatgga atggaatgag ctccatagat
     1681 tagttttgaa tataaagtat ataaaagtgc atcagtggtt tatataggct ttaaaaacat
     1741 gttatcttac agtcctttaa agcagccata gagtttgtat catttttcaa gccaatttca
     1801 gtcagggatt tgaattgttt gattatggat gataaatgtg tcatatctta ttaatatgtc
     1861 tcatgtctcg ttccttctta atatgattta gctggaattc attttctttt cgtttcatgt
     1921 ttaatttcat aaaacgttta acaattggca tatatacttg gcattcctgt ccaccaagga
     1981 ttgtaatcca agcctgggaa aatcttaaat ttctttttac ttaaatctgg aaatttgtct
     2041 ccattctgcc accttttttt tttttttttt ttatagtgga ggggaggaaa ggggggtgat
     2101 accttgcagt aagtaagtcg aaatagcatg cctgaaaatt tgaaacagac cattctaaca
     2161 cccaaggctt gtttataaaa tacttgagaa ttacattaat gtggaatcaa cagatgcaga
     2221 agaatataac ataactttta aaagctttca taaataccag cagcaattgt aagcaaatct
     2281 acaaaggttc ttgaaccttt ctattatata caaaactgaa aagtcattaa ggagttcaac
     2341 taatcaggaa ttaaatggtc atttatttca tgcagtatga tttaaggtat ttcttgagat
     2401 tctggtcaaa tgtcataatc agcaaacggg attaaaaaaa aaactccaaa atcactaaat
     2461 aattatctaa ataatggtat tggagaactt gtttcctgct atttggaaga gattgttgct
     2521 tcattgctag tttgtatttc taacttctac agttatagac tccactgtgc tttgtgtctg
     2581 aatttctcag tatagacatt ttgtttactg tatgcttgca tatttatttt caactttgtt
     2641 tgtctttaaa attgcttgag gaaaaatggt tgtaattaat ttctgctaca gaaaagccac
     2701 ctggtacgtt ttgtctcatc aggattgttt taaattctaa actataagtt tgttcagagg
     2761 ggcttttgca atgatagcag aaaactgtac aaatgtacag ttagttatag aggttcttgt
     2821 tgaaatgaac ttaccatctg atgatatgta tgtacagctg tgtacttgag tcttttttag
     2881 tttacttaga aagactagca gtttgacctg ttaaacagga ctagttcaag tcaagaaact
     2941 aaggttgttg tatacacctg gaggcatctg ttattcagct tatcctttga gtgggtattt
     3001 ggcacaatga ggataaactt atgtgaccca cttgaatggc tgatctaata atgttgacat
     3061 tatgcattct gtacttagtg aaatgtcaga tgaaaataac tgatgaataa tttttttgta
     3121 ttaaagggat gggaaaagaa cacatgaatt tgttaataaa gcactatgat ctgcaaacga
     3181 tggaatgttt cataaagatc taaagaaata aaggaaactt taaaacag
//
