LOCUS       NM_001282322            1610 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens ring finger protein 212B (RNF212B), transcript variant
            1, mRNA.
ACCESSION   NM_001282322 XM_003118918 XM_003119566 XM_003960547
VERSION     NM_001282322.3
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 1610)
  AUTHORS   Gershoni,M., Braun,T., Hauser,R., Barda,S., Lehavi,O., Malcov,M.,
            Frumkin,T., Kalma,Y., Pietrokovski,S., Arama,E. and Kleiman,S.E.
  TITLE     A pathogenic variant in the uncharacterized RNF212B gene results in
            severe aneuploidy male infertility and repeated IVF failure
  JOURNAL   HGG Adv 4 (3), 100189 (2023)
   PUBMED   37124137
  REMARK    GeneRIF: A pathogenic variant in the uncharacterized RNF212B gene
            results in severe aneuploidy male infertility and repeated IVF
            failure.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1610)
  AUTHORS   Heilig,R., Eckenberg,R., Petit,J.L., Fonknechten,N., Da Silva,C.,
            Cattolico,L., Levy,M., Barbe,V., de Berardinis,V., Ureta-Vidal,A.,
            Pelletier,E., Vico,V., Anthouard,V., Rowen,L., Madan,A., Qin,S.,
            Sun,H., Du,H., Pepin,K., Artiguenave,F., Robert,C., Cruaud,C.,
            Bruls,T., Jaillon,O., Friedlander,L., Samson,G., Brottier,P.,
            Cure,S., Segurens,B., Aniere,F., Samain,S., Crespeau,H., Abbasi,N.,
            Aiach,N., Boscus,D., Dickhoff,R., Dors,M., Dubois,I., Friedman,C.,
            Gouyvenoux,M., James,R., Madan,A., Mairey-Estrada,B., Mangenot,S.,
            Martins,N., Menard,M., Oztas,S., Ratcliffe,A., Shaffer,T.,
            Trask,B., Vacherie,B., Bellemere,C., Belser,C., Besnard-Gonnet,M.,
            Bartol-Mavel,D., Boutard,M., Briez-Silla,S., Combette,S.,
            Dufosse-Laurent,V., Ferron,C., Lechaplais,C., Louesse,C.,
            Muselet,D., Magdelenat,G., Pateau,E., Petit,E.,
            Sirvain-Trukniewicz,P., Trybou,A., Vega-Czarny,N., Bataille,E.,
            Bluet,E., Bordelais,I., Dubois,M., Dumont,C., Guerin,T.,
            Haffray,S., Hammadi,R., Muanga,J., Pellouin,V., Robert,D.,
            Wunderle,E., Gauguet,G., Roy,A., Sainte-Marthe,L., Verdier,J.,
            Verdier-Discala,C., Hillier,L., Fulton,L., McPherson,J.,
            Matsuda,F., Wilson,R., Scarpelli,C., Gyapay,G., Wincker,P.,
            Saurin,W., Quetier,F., Waterston,R., Hood,L. and Weissenbach,J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
  REMARK    Erratum:[Nature. 2023 Aug;620(7973):E17. doi:
            10.1038/s41586-023-06403-y.. PMID: 37491470]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049829.4.
            
            On May 2, 2019 this sequence version replaced NM_001282322.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000430154.7/ ENSP00000397830.2
            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
            1-120               AL049829.4         19994-20113
            121-221             AL049829.4         22403-22503
            222-274             AL049829.4         25314-25366
            275-349             AL049829.4         26380-26454
            350-465             AL049829.4         40607-40722
            466-526             AL049829.4         41942-42002
            527-555             AL049829.4         42717-42745
            556-602             AL049829.4         44723-44769
            603-645             AL049829.4         44986-45028
            646-706             AL049829.4         46232-46292
            707-755             AL049829.4         46681-46729
            756-795             AL049829.4         50982-51021
            796-893             AL049829.4         51921-52018
            894-955             AL049829.4         52658-52719
            956-1610            AL049829.4         54881-55535
FEATURES             Location/Qualifiers
     source          1..1610
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1610
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /note="ring finger protein 212B"
                     /db_xref="GeneID:100507650"
                     /db_xref="HGNC:HGNC:20438"
                     /db_xref="MIM:621020"
     exon            1..120
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            121..221
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..1024
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /EC_number="2.3.2.27"
                     /note="RING finger protein C14orf164-like"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase RNF212B"
                     /protein_id="NP_001269251.1"
                     /db_xref="CCDS:CCDS61401.1"
                     /db_xref="GeneID:100507650"
                     /db_xref="HGNC:HGNC:20438"
                     /db_xref="MIM:621020"
                     /translation="MDWFHCNQCFRKDGAHFFVTSCGHIFCKKCVTLEKCAVCGTACK
                     HLALSDNLKPQEKMFFKSPVETALQYFSHISQVWSFQKKQTDLLIAFYKHRITKLETA
                     MQEAQQALVSQDKELSVLRKENGELKKFLAILKESPSRYQGSRSITPRPVGITSPSQS
                     VTPRPSFQHSSQVVSRSSSAESIPYREAGFGSLGQGGRGLQGRRTPRDSYNETPSPAS
                     THSLSYRTSSASSGQGIFSFRPSPNGHSGHTRVLTPNNFAQRESTTTLESLPSFQLPV
                     LQTLYQQRRHMGLPSGREAWTTSR"
     exon            222..274
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            275..349
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            350..465
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            466..526
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            527..555
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            556..602
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            603..645
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            646..706
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            707..755
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            756..795
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            796..893
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            894..955
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1610
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1505..1510
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /note="hexamer: ATTAAA"
     polyA_site      1535
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /note="major polyA site"
     regulatory      1581..1586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /note="hexamer: AATAAA"
     polyA_site      1610
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /note="major polyA site"
ORIGIN      
        1 ctctttcctc acccggtgcc aagccagctg tttactttcc cgccatgtcc agctcttcgt
       61 gaggagaact ggatgatttc ctgagatctg aggctttctg gaatcacagc ggccaagcgg
      121 aatggattgg tttcattgca accagtgctt ccgaaaagat ggggcccatt tctttgtcac
      181 cagctgtggc catattttct gtaaaaagtg tgtgactctg gaaaaatgtg ctgtttgtgg
      241 aactgcctgc aagcatctgg ctctttctga taatctgaag cctcaggaga agatgttttt
      301 caaaagtcct gtggagacag ctttgcagta ttttagtcac atctctcagg tgtggagttt
      361 ccagaagaaa caaacagatc tcctcatcgc cttttataag catagaatta caaagttaga
      421 aacagccatg caggaggcac agcaagcact ggtgagccag gacaaagaat tgtcagtctt
      481 aaggaaggag aatggagaac tgaagaaatt tctagccatt ctaaaggaat ctccaagtcg
      541 gtaccaagga agcaggtcaa tcacacctcg accagtgggc attacttccc catcacagtc
      601 agttacccca cgacccagtt tccagcatag cagtcaagtg gtcagtcggt cctcctcagc
      661 ggaatctatt ccttatagag aggctggctt tggtagcttg ggacaaggag gcagaggtct
      721 gcagggaagg agaactccca gagactctta taatgaaacc ccttcaccgg cttcaactca
      781 tagcctatct tatagaactt catctgcctc ctctggacag gggatttttt ctttcagacc
      841 atccccaaat gggcattcag gccacacaag agtcctcacc cccaacaatt ttgctcagag
      901 ggagagcaca actacactag agagtcttcc tagtttccag ctaccagtcc tgcagactct
      961 ctaccaacaa cggaggcata tgggattacc cagtgggaga gaagcatgga ccacttctag
     1021 atagatcatc ttcaagatct gatctataca tgctgctgaa ggatggactg tagcttccag
     1081 tacgcattag gggtgatggc cctggaaaat gtatccctgc attgtttcct agtttcactc
     1141 tgtaccttat gctcccccca tctttaccct attcaccctt atcacctccc aggacagtgg
     1201 tcaggtctta caaaaggcta gtgcttcagg aagatgttta tatctcttcc agaagacact
     1261 ggtagctccc ctcatttcct acaatttgga acaaaggtca aaaaaataat tcttggcatc
     1321 atgcttggtt gggagttggg aatggggatt gtgatggatc atatactcat cactgtttca
     1381 tttctggatt tcatttttag ctttggatat actgtcccat tgccaatgtt aacgagcaat
     1441 atctctgttc ttttccttat tatacttttt tatttgtcta ttatttcctc tatgcttagt
     1501 tactattaaa tgttaatttt cctttctatt gaaaacaact gttggagaca ctgattttca
     1561 gcttagtata tagatagtaa aataaagacg atgccctttt attgctacaa
//
