2024-03-29 13:58:23, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_194439 2367 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens ring finger protein 212 (RNF212), transcript variant 2, mRNA. ACCESSION NM_194439 XM_351577 VERSION NM_194439.4 GI:308235941 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 2367) 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 2 (bases 1 to 2367) 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 3 (bases 1 to 2367) 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, AC019103.8 and BC050356.1. On Oct 9, 2010 this sequence version replaced gi:300863137. 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 (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform b which has a shorter and distinct C-terminus compared to 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 :: AK096160.1, BC101258.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-2 BG701603.1 2-3 3-1197 AK096160.1 1-1195 1198-1484 AC019103.8 149334-149620 c 1485-2334 AK096160.1 1484-2333 2335-2367 BC050356.1 2346-2378 FEATURES Location/Qualifiers source 1..2367 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="4" /map="4p16.3" gene 1..2367 /gene="RNF212" /gene_synonym="ZHP3" /note="ring finger protein 212" /db_xref="GeneID:285498" /db_xref="HGNC:27729" /db_xref="HPRD:14158" /db_xref="MIM:612041" exon 1..209 /gene="RNF212" /gene_synonym="ZHP3" /inference="alignment:Splign:1.39.8" variation complement(27) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:372230431" variation complement(37) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:148945469" STS 39..1059 /gene="RNF212" /gene_synonym="ZHP3" /db_xref="UniSTS:487292" variation complement(72) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:367810629" variation complement(75) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:11728360" variation complement(89) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:192989269" CDS 101..799 /gene="RNF212" /gene_synonym="ZHP3" /note="isoform b is encoded by transcript variant 2; probable E3 SUMO-protein ligase RNF212" /codon_start=1 /product="probable E3 SUMO-protein ligase RNF212 isoform b" /protein_id="NP_919420.1" /db_xref="GI:37059810" /db_xref="CCDS:CCDS3345.1" /db_xref="GeneID:285498" /db_xref="HGNC:27729" /db_xref="HPRD:14158" /db_xref="MIM:612041" /translation="
MANWVFCNRCFQPPHRTSCFSLTNCGHVYCDACLGKGKKNECLICKAPCRTVLLSKHTDADIQAFFMSIDSLCKKYSRETSQILEFQEKHRKRLLAFYREKISRLEESLRKSVLQIEQLQSMRSSQQTAFSTIKSSVSTKPHGCLLPPHSSAPDRLESMEVDLSPSPIRKSEIAAGPARISMISPPQDGRMAPCARRVCHFQRFTMFLHRRLSSLAAPPSVQFWKARGTHQL
" variation complement(108) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:78978823" variation complement(127) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:370590742" variation complement(153) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="g" /db_xref="dbSNP:201230381" variation complement(168) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="g" /db_xref="dbSNP:375947137" variation complement(181) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:375249286" variation complement(200) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:375409179" variation complement(204) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="g" /db_xref="dbSNP:188658198" exon 210..271 /gene="RNF212" /gene_synonym="ZHP3" /inference="alignment:Splign:1.39.8" variation complement(229) /gene="RNF212" /gene_synonym="ZHP3" /replace="g" /replace="t" /db_xref="dbSNP:139291604" variation complement(249) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:370043717" variation complement(253) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="t" /db_xref="dbSNP:377123898" variation complement(270) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="t" /db_xref="dbSNP:374134594" exon 272..346 /gene="RNF212" /gene_synonym="ZHP3" /inference="alignment:Splign:1.39.8" variation complement(274) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:4045481" variation complement(275) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:142187515" variation complement(277) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:193063713" variation complement(279) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:140128337" variation complement(307) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:146161994" exon 347..403 /gene="RNF212" /gene_synonym="ZHP3" /inference="alignment:Splign:1.39.8" variation complement(382) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:370624541" exon 404..462 /gene="RNF212" /gene_synonym="ZHP3" /inference="alignment:Splign:1.39.8" exon 463..515 /gene="RNF212" /gene_synonym="ZHP3" /inference="alignment:Splign:1.39.8" variation complement(463) /gene="RNF212" /gene_synonym="ZHP3" /replace="g" /replace="t" /db_xref="dbSNP:143046808" variation complement(498) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:199811548" variation complement(508) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:61745881" exon 516..564 /gene="RNF212" /gene_synonym="ZHP3" /inference="alignment:Splign:1.39.8" variation complement(526) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:146814980" variation complement(549) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:371785141" variation complement(555) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="g" /db_xref="dbSNP:149485506" variation complement(559) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:367993931" exon 565..610 /gene="RNF212" /gene_synonym="ZHP3" /inference="alignment:Splign:1.39.8" variation complement(582) /gene="RNF212" /gene_synonym="ZHP3" /replace="g" /replace="t" /db_xref="dbSNP:200627313" variation complement(585) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:137960323" variation complement(600) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:369008108" variation complement(601) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:372331560" exon 611..674 /gene="RNF212" /gene_synonym="ZHP3" /inference="alignment:Splign:1.39.8" variation complement(633) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:150320559" variation complement(634) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:141381105" variation complement(669) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="g" /db_xref="dbSNP:375321823" exon 675..2337 /gene="RNF212" /gene_synonym="ZHP3" /inference="alignment:Splign:1.39.8" variation complement(687) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:116845605" variation complement(688) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="g" /db_xref="dbSNP:372888744" variation complement(731) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:147818050" variation complement(749) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:199734209" variation complement(761) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:146228753" variation complement(779) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:199880036" variation complement(780) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:375445210" variation complement(785) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:55813847" variation complement(789) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:151042310" variation complement(792) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="t" /db_xref="dbSNP:372156034" variation complement(793) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:200415933" variation complement(797) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:112521862" variation complement(807) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:201543039" variation complement(811) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:367988661" variation complement(833) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:142228667" variation complement(834) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:17728127" variation complement(874) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:199600360" variation complement(1014) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="c" /db_xref="dbSNP:187572097" variation complement(1108) /gene="RNF212" /gene_synonym="ZHP3" /replace="g" /replace="t" /db_xref="dbSNP:183214373" variation complement(1114) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="t" /db_xref="dbSNP:77642982" variation complement(1197..1198) /gene="RNF212" /gene_synonym="ZHP3" /replace="" /replace="t" /db_xref="dbSNP:201319741" variation complement(1213) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:57770549" variation complement(1357) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="c" /db_xref="dbSNP:189909552" variation complement(1407) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:61401138" variation complement(1412..1413) /gene="RNF212" /gene_synonym="ZHP3" /replace="" /replace="a" /db_xref="dbSNP:34559848" variation complement(1446) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="t" /db_xref="dbSNP:186598604" variation complement(1525) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:76934875" variation complement(1526) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="t" /db_xref="dbSNP:75000940" variation complement(1530) /gene="RNF212" /gene_synonym="ZHP3" /replace="" /replace="a" /db_xref="dbSNP:35538273" variation complement(1530) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="t" /db_xref="dbSNP:372319522" variation complement(1531) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:201468501" variation complement(1581) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="c" /db_xref="dbSNP:199814803" variation complement(1601) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="g" /db_xref="dbSNP:371043312" variation complement(1606) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="g" /db_xref="dbSNP:151164243" variation complement(1661) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:142132776" variation complement(1690) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:75724850" variation complement(1760) /gene="RNF212" /gene_synonym="ZHP3" /replace="g" /replace="t" /db_xref="dbSNP:139872801" variation complement(1761) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:374130399" variation complement(1839) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:117675054" variation complement(1865) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="t" /db_xref="dbSNP:182573166" variation complement(1930) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="g" /db_xref="dbSNP:369198728" variation complement(2092) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="t" /db_xref="dbSNP:59750515" variation complement(2117) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:79998857" variation complement(2123) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="g" /db_xref="dbSNP:145990706" variation complement(2190) /gene="RNF212" /gene_synonym="ZHP3" /replace="a" /replace="t" /db_xref="dbSNP:78498193" variation complement(2311) /gene="RNF212" /gene_synonym="ZHP3" /replace="c" /replace="g" /db_xref="dbSNP:191306553" polyA_site 2337 /gene="RNF212" /gene_synonym="ZHP3" ORIGIN
gcagagctgcccgccttcgggccctgcgcggggaggctggtcccaaccttgcgtgggcttcgcgtgggcccggcctcgccgctgcggtcgcccgcctggcatggccaactgggtgttctgtaatcgctgcttccagccgccccacaggacgtcgtgcttcagcctcaccaactgcgggcacgtgtactgcgacgcctgcctcggcaaaggtaaaaagaatgaatgcttgatttgtaaagctccttgtcgtacagttttgctttcaaagcataccgacgcagatatccaggcattcttcatgagcatagacagtctgtgtaagaagtactccagggaaacctcccagattttagaatttcaagaaaaacacaggaagagattgttagccttctatagagaaaagatttctaggttggaagaatcccttaggaagtcagtgctgcagatagaacaactacaaagtatgagatcatcacaacaaacagctttcagcacaataaaaagttcagtttcaacaaaaccacacggatgcctgctgccacctcactcatcagcccccgacagactggagtcgatggaagttgatctctctccttctccgattagaaaatctgagatagcagccggccctgcgagaatctccatgattagtccacctcaagatggacgaatggccccctgtgcccggagagtgtgtcatttccagaggttcaccatgtttctgcatagacgtctgtcctcactggctgctcctcctagcgttcagttctggaaggcacggggaactcaccaactctaaaacacttccaatatatgctgaggtacaaagggccgtcttgtttccgttccagcaggctgagggcaccctggacacgttcagaacacccgctgtgtctgttgtgtttcctctttgccaatttgaaaggaaaaagtcattttgatttgcatttatgtgactattaatgattctgagtgttttcaatttattcctctgtgttttttctacaaattatctgctttattcctttgtcatttatgtggaagccctcagtgtgcaggatattaaccttttacccaatttgctttgtaattttatatttgacctttgaattttagagacaatatttttatgtactcatatatattgttattatcccttttattttataggttctcatgcttagggagtttttttttcacatacttaaatcatttttttctaactgggtggtttttaaaactttttcttagagcagttttaggttcacagaaaaattgaaaggaaggtacagatttcccatatacaccatgactccacacacgcacagctcccccatcatcctcatcctccaccagagcagtccatgtgttaaaactgatgatcctacttgaatacatcattatcacccaacgtccatggtttacattagggttcactctaggtgtcgaatgttctatgggtttgaacaaatatctagtgacatgtgtccccatcgtagcagcatatggaatagtgccacaccctaaaaatcctctgtgcgccacctgttcatccttcccccacctcccaccaacccttgacagccactgatctttttacggtccctttttcagactctcctggagttggaattgtacagtatgtggcttctcagattgactcctttcacttagcaatacacacttatggttcccccatctcttctcatggtttgctagctcattttttcagtcactgaataatattccattatctggatgtatcatagttcatccattcacctactgaagggcatcttggttgcttccaagttttggcaattatgaattaagctgctatagatgtccatgtgccagggttttgtgtagacatgttttcagctcctttgggtaaatactaaggagtgtgaatgctggatcagatggtgagagggtgtttagttttgaaagaaattgccaaactaccttccaaagtggcagcagcttttcgcattcccactagcaacgaatgagagttcctgttgctccacgtcctcacatttgatgatgtcagtgttctggattttggccagctgataggtatgtagtggtatcttgctgttttattttgcatttcattgataacatatgactaggagcatcttatgctgatttttcatctgcatatcttctttgctgaagtgtctgttaaggtatttggcccattttttaattggattgttttcttattgttgagttttaagagtcctgtgtatattttggatgacatttcttttttgtgtgtcttttttttggatgacatttccttatcagataaatatgtatcttgaaaatataaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:285498 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA GeneID:285498 -> Molecular function: GO:0016874 [ligase activity] evidence: IEA GeneID:285498 -> Biological process: GO:0006311 [meiotic gene conversion] evidence: ISS GeneID:285498 -> Biological process: GO:0007131 [reciprocal meiotic recombination] evidence: ISS GeneID:285498 -> Biological process: GO:0016925 [protein sumoylation] evidence: IEA GeneID:285498 -> Cellular component: GO:0000795 [synaptonemal complex] evidence: ISS
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.