LOCUS       NM_001131034            2390 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens ring finger protein 212 (RNF212), transcript variant
            1, mRNA.
ACCESSION   NM_001131034
VERSION     NM_001131034.4
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 2390)
  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 2390)
  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 2390)
  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 2390)
  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 2390)
  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 BG701603.1, AK096160.1,
            BC101260.1, AC019103.8 and BC050356.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001131034.3.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC101260.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000433731.7/ ENSP00000389709.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BG701603.1         2-3
            3-38                AK096160.1         1-36
            39-1112             BC101260.1         1-1074
            1113-1537           AC019103.8         149334-149758       c
            1538-2387           AK096160.1         1484-2333
            2388-2390           BC050356.1         2346-2348
FEATURES             Location/Qualifiers
     source          1..2390
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2390
                     /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..994
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /note="isoform a is encoded by transcript variant 1;
                     probable E3 SUMO-protein ligase RNF212; probable E3
                     SUMO-protein transferase RNF212"
                     /codon_start=1
                     /product="probable E3 SUMO-protein ligase RNF212 isoform
                     a"
                     /protein_id="NP_001124506.1"
                     /db_xref="CCDS:CCDS46996.1"
                     /db_xref="GeneID:285498"
                     /db_xref="HGNC:HGNC:27729"
                     /db_xref="MIM:612041"
                     /translation="MANWVFCNRCFQPPHRTSCFSLTNCGHVYCDACLGKGKKNECLI
                     CKAPCRTVLLSKHTDADIQAFFMSIDSLCKKYSRETSQILEFQEKHRKRLLAFYREKI
                     SRLEESLRKSVLQIEQLQSMRSSQQTAFSTIKSSVSTKPHGCLLPPHSSAPDRLESME
                     VDLSPSPIRKSEIAAGPARISMISPPQDGRMGPHLTASFCFIPWLTLSKPPVPGECVI
                     SRGSPCFCIDVCPHWLLLLAFSSGRHGELTNSKTLPIYAEVQRAVLFPFQQAEGTLDT
                     FRTPAVSVVFPLCQFERKKSF"
     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..2390
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2366..2371
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNF212"
                     /gene_synonym="SPGF62; ZHP3"
                     /note="hexamer: GATAAA"
     polyA_site      2390
                     /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 atggggccac atctaacagc ttctttctgt ttcatcccat ggttgacctt
      721 gtctaagccc cctgtgcccg gagagtgtgt catttccaga ggttcaccat gtttctgcat
      781 agacgtctgt cctcactggc tgctcctcct agcgttcagt tctggaaggc acggggaact
      841 caccaactct aaaacacttc caatatatgc tgaggtacaa agggccgtct tgtttccgtt
      901 ccagcaggct gagggcaccc tggacacgtt cagaacaccc gctgtgtctg ttgtgtttcc
      961 tctttgccaa tttgaaagga aaaagtcatt ttgatttgca tttatgtgac tattaatgat
     1021 tctgagtgtt ttcaatttat tcctctgtgt tttttctaca aattatctgc tttattcctt
     1081 tgtcatttat gtggaagccc tcagtgtgca ggatattaac cttttaccca atttgctttg
     1141 taattttata tttgaccttt gaattttaga gacaatattt ttatgtactc atatatattg
     1201 ttattatccc ttttatttta taggttctca tgcttaggga gttttttttt cacatactta
     1261 aatcattttt ttctaactgg gtggttttta aaactttttc ttagagcagt tttaggttca
     1321 cagaaaaatt gaaaggaagg tacagatttc ccatatacac catgactcca cacacgcaca
     1381 gctcccccat catcctcatc ctccaccaga gcagtccatg tgttaaaact gatgatccta
     1441 cttgaataca tcattatcac ccaacgtcca tggtttacat tagggttcac tctaggtgtc
     1501 gaatgttcta tgggtttgaa caaatatcta gtgacatgtg tccccatcgt agcagcatat
     1561 ggaatagtgc cacaccctaa aaatcctctg tgcgccacct gttcatcctt cccccacctc
     1621 ccaccaaccc ttgacagcca ctgatctttt tacggtccct ttttcagact ctcctggagt
     1681 tggaattgta cagtatgtgg cttctcagat tgactccttt cacttagcaa tacacactta
     1741 tggttccccc atctcttctc atggtttgct agctcatttt ttcagtcact gaataatatt
     1801 ccattatctg gatgtatcat agttcatcca ttcacctact gaagggcatc ttggttgctt
     1861 ccaagttttg gcaattatga attaagctgc tatagatgtc catgtgccag ggttttgtgt
     1921 agacatgttt tcagctcctt tgggtaaata ctaaggagtg tgaatgctgg atcagatggt
     1981 gagagggtgt ttagttttga aagaaattgc caaactacct tccaaagtgg cagcagcttt
     2041 tcgcattccc actagcaacg aatgagagtt cctgttgctc cacgtcctca catttgatga
     2101 tgtcagtgtt ctggattttg gccagctgat aggtatgtag tggtatcttg ctgttttatt
     2161 ttgcatttca ttgataacat atgactagga gcatcttatg ctgatttttc atctgcatat
     2221 cttctttgct gaagtgtctg ttaaggtatt tggcccattt tttaattgga ttgttttctt
     2281 attgttgagt tttaagagtc ctgtgtatat tttggatgac atttcttttt tgtgtgtctt
     2341 ttttttggat gacatttcct tatcagataa atatgtatct tgaaaatata
//
