LOCUS       NM_001366919            1167 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens ring finger protein 212 (RNF212), transcript variant
            5, mRNA.
ACCESSION   NM_001366919 XM_005272274
VERSION     NM_001366919.1
KEYWORDS    RefSeq.
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 1167)
  AUTHORS   Riera-Escamilla,A., Enguita-Marruedo,A., Moreno-Mendoza,D.,
            Chianese,C., Sleddens-Linkels,E., Contini,E., Benelli,M.,
            Natali,A., Colpi,G.M., Ruiz-Castane,E., Maggi,M., Baarends,W.M. and
            Krausz,C.
  TITLE     Sequencing of a 'mouse azoospermia' gene panel in azoospermic men:
            identification of RNF212 and STAG3 mutations as novel genetic
            causes of meiotic arrest
  JOURNAL   Hum Reprod 34 (6), 978-988 (2019)
   PUBMED   31125047
  REMARK    GeneRIF: For the first time, study reports biallelic variants in
            STAG3, in one sporadic patient, and a homozygous RNF212 variant, in
            the two brothers, as the genetic cause of non-obstructive
            azoospermia. Meiotic studies allowed the detection of the
            functional consequences of the mutations and provided information
            on the role of STAG3 and RNF212 in human male meiosis.
            Erratum:[Hum Reprod. 2020 Aug 1;35(8):1945-1946. doi:
            10.1093/humrep/deaa179.. PMID: 32715309]
REFERENCE   2  (bases 1 to 1167)
  AUTHORS   Yu,C.H., Xie,T., Zhang,R.P. and A,Z.C.
  TITLE     Association of the common SNPs in RNF212, STAG3 and RFX2 gene with
            male infertility with azoospermia in Chinese population
  JOURNAL   Eur J Obstet Gynecol Reprod Biol 221, 109-112 (2018)
   PUBMED   29277047
  REMARK    GeneRIF: The polymorphism of SNP rs4045481 in RNF212 gene might be
            associated with azoospermia and genotype CC of this SNP may be a
            risk factor of azoospermia.
REFERENCE   3  (bases 1 to 1167)
  AUTHORS   Reynolds,A., Qiao,H., Yang,Y., Chen,J.K., Jackson,N., Biswas,K.,
            Holloway,J.K., Baudat,F., de Massy,B., Wang,J., Hoog,C., Cohen,P.E.
            and Hunter,N.
  TITLE     RNF212 is a dosage-sensitive regulator of crossing-over during
            mammalian meiosis
  JOURNAL   Nat Genet 45 (3), 269-278 (2013)
   PUBMED   23396135
REFERENCE   4  (bases 1 to 1167)
  AUTHORS   Kong,A., Thorleifsson,G., Stefansson,H., Masson,G., Helgason,A.,
            Gudbjartsson,D.F., Jonsdottir,G.M., Gudjonsson,S.A., Sverrisson,S.,
            Thorlacius,T., Jonasdottir,A., Hardarson,G.A., Palsson,S.T.,
            Frigge,M.L., Gulcher,J.R., Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Sequence variants in the RNF212 gene associate with genome-wide
            recombination rate
  JOURNAL   Science 319 (5868), 1398-1401 (2008)
   PUBMED   18239089
  REMARK    GeneRIF: genome search identified sequence variants in the 4p16.3
            region correlated with recombination rate in males & females;
            variants are located in the RNF212 gene, a putative ortholog of
            ZHP-3 gene essential for recombination & chiasma formation in C
            elegans
            GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   5  (bases 1 to 1167)
  AUTHORS   Jantsch,V., Pasierbek,P., Mueller,M.M., Schweizer,D., Jantsch,M.
            and Loidl,J.
  TITLE     Targeted gene knockout reveals a role in meiotic recombination for
            ZHP-3, a Zip3-related protein in Caenorhabditis elegans
  JOURNAL   Mol Cell Biol 24 (18), 7998-8006 (2004)
   PUBMED   15340062
  REMARK    GeneRIF: This paper describes a partial transcript of the human
            RNF212 gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092535.4 and AC019103.8.
            
            On Oct 26, 2018 this sequence version replaced XM_005272274.2.
            
            Summary: This gene encodes a RING finger protein that may function
            as a ubiquitin ligase. The encoded protein may be involved in
            meiotic recombination. This gene is located within a linkage
            disequilibrium block and polymorphisms in this gene may influence
            recombination rates. Alternate splicing results in multiple
            transcript variants.[provided by RefSeq, Oct 2010].
            
            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##
            Transcript exon combination :: SRR5189658.184133.1,
                                           DRR138512.260659.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-209               AC092535.4         14128-14336         c
            210-271             AC092535.4         9115-9176           c
            272-346             AC019103.8         173768-173842       c
            347-403             AC019103.8         167785-167841       c
            404-462             AC019103.8         162899-162957       c
            463-515             AC019103.8         158570-158622       c
            516-564             AC019103.8         158422-158470       c
            565-610             AC019103.8         156646-156691       c
            611-674             AC019103.8         150602-150665       c
            675-747             AC019103.8         135324-135396       c
            748-914             AC019103.8         133841-134007       c
            915-1167            AC019103.8         133254-133506       c
FEATURES             Location/Qualifiers
     source          1..1167
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..1167
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /note="ring finger protein 212"
                     /db_xref="GeneID:285498"
                     /db_xref="HGNC:HGNC:27729"
                     /db_xref="MIM:612041"
     exon            1..209
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..919
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /note="isoform e is encoded by transcript variant 5;
                     probable E3 SUMO-protein ligase RNF212; probable E3
                     SUMO-protein transferase RNF212"
                     /codon_start=1
                     /product="probable E3 SUMO-protein ligase RNF212 isoform
                     e"
                     /protein_id="NP_001353848.1"
                     /db_xref="CCDS:CCDS93460.1"
                     /db_xref="GeneID:285498"
                     /db_xref="HGNC:HGNC:27729"
                     /db_xref="MIM:612041"
                     /translation="MANWVFCNRCFQPPHRTSCFSLTNCGHVYCDACLGKGKKNECLI
                     CKAPCRTVLLSKHTDADIQAFFMSIDSLCKKYSRETSQILEFQEKHRKRLLAFYREKI
                     SRLEESLRKSVLQIEQLQSMRSSQQTAFSTIKSSVSTKPHGCLLPPHSSAPDRLESME
                     VDLSPSPIRKSEIAAGPARISMISPPQDGRMGSVSSLGPEHPGLTTSQRSMGKPLRIP
                     PLQIPYKGPPLTPTPQLPGRAGRGDSPSFGGSQARLPPRPPISIPSLLQRQCLV"
     exon            210..271
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     exon            272..346
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     exon            347..403
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     exon            404..462
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     exon            463..515
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     exon            516..564
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     exon            565..610
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     exon            611..674
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     exon            675..747
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     exon            748..914
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     exon            915..1167
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1144..1149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /note="hexamer: AATAAA"
     polyA_site      1167
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /note="major polyA site"
ORIGIN      
        1 gcagagctgc ccgccttcgg gccctgcgcg gggaggctgg tcccaacctt gcgtgggctt
       61 cgcgtgggcc cggcctcgcc gctgcggtcg cccgcctggc atggccaact gggtgttctg
      121 taatcgctgc ttccagccgc cccacaggac gtcgtgcttc agcctcacca actgcgggca
      181 cgtgtactgc gacgcctgcc tcggcaaagg taaaaagaat gaatgcttga tttgtaaagc
      241 tccttgtcgt acagttttgc tttcaaagca taccgacgca gatatccagg cattcttcat
      301 gagcatagac agtctgtgta agaagtactc cagggaaacc tcccagattt tagaatttca
      361 agaaaaacac aggaagagat tgttagcctt ctatagagaa aagatttcta ggttggaaga
      421 atcccttagg aagtcagtgc tgcagataga acaactacaa agtatgagat catcacaaca
      481 aacagctttc agcacaataa aaagttcagt ttcaacaaaa ccacacggat gcctgctgcc
      541 acctcactca tcagcccccg acagactgga gtcgatggaa gttgatctct ctccttctcc
      601 gattagaaaa tctgagatag cagccggccc tgcgagaatc tccatgatta gtccacctca
      661 agatggacga atgggcagcg tctcctccct gggccccgag catcccggcc tgacaacgag
      721 tcagaggagc atgggaaagc ctctcaggat tccacctctg caaattccct acaagggacc
      781 cccactaacg ccaacaccac agttaccagg gagagcagga agaggggact ctccaagctt
      841 cgggggctcc caggccaggc tgcccccccg gccgcccatc agcatcccca gcctgctgca
      901 gaggcagtgt ttagtgtgaa gttttgaagt catttcaaag acaaagttgt gtttttaccg
      961 cgacttccat gcctcctgcg ggacctgctc accttggggc agtgacacct gaaagatgag
     1021 cacccagcca cccgctctgc ccccttccag tcctccagcc ttcgtgccca ccagcatgtg
     1081 tacgttagac agccagtgcg actgtacttt ccctcttgtt gaaataatta agtaatgtag
     1141 tggaataaag tatttttctg attatca
//
