GGRNA Home | Help | Advanced search

2019-03-25 15:02:39, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_005674               2406 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens zinc finger protein 239 (ZNF239), transcript variant
            1, mRNA.
ACCESSION   NM_005674
VERSION     NM_005674.2  GI:149999355
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 2406)
  AUTHORS   Lei,S.F., Papasian,C.J. and Deng,H.W.
  TITLE     Polymorphisms in predicted miRNA binding sites and osteoporosis
  JOURNAL   J. Bone Miner. Res. 26 (1), 72-78 (2011)
   PUBMED   20641033
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   2  (bases 1 to 2406)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 2406)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am. J. Hum. Genet. 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2406)
  AUTHORS   Harper,M., Tillit,J., Kress,M. and Ernoult-Lange,M.
  TITLE     Phosphorylation-dependent binding of human transcription factor
            MOK2 to lamin A/C
  JOURNAL   FEBS J. 276 (11), 3137-3147 (2009)
   PUBMED   19490114
  REMARK    GeneRIF: Data identified Ser38 and Ser129 of hsMOK2 as
            phosphorylation sites of JNK3 kinase, and Ser46 as a
            phosphorylation site of Aurora A and protein kinase A.
REFERENCE   5  (bases 1 to 2406)
  AUTHORS   Dreuillet,C., Harper,M., Tillit,J., Kress,M. and Ernoult-Lange,M.
  TITLE     Mislocalization of human transcription factor MOK2 in the presence
            of pathogenic mutations of lamin A/C
  JOURNAL   Biol. Cell 100 (1), 51-61 (2008)
   PUBMED   17760566
  REMARK    GeneRIF: Results indicate that pathogenic mutations in lamin A/C
            lead to sequestration of hsMOK2 into nuclear aggregates, which may
            deregulate MOK2 target genes.
REFERENCE   6  (bases 1 to 2406)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am. J. Hum. Genet. 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2406)
  AUTHORS   Dreuillet,C., Tillit,J., Kress,M. and Ernoult-Lange,M.
  TITLE     In vivo and in vitro interaction between human transcription factor
            MOK2 and nuclear lamin A/C
  JOURNAL   Nucleic Acids Res. 30 (21), 4634-4642 (2002)
   PUBMED   12409453
  REMARK    GeneRIF: In this study, we identify a novel interaction between
            lamin A/C and hsMOK2 by using the yeast two-hybrid system
REFERENCE   8  (bases 1 to 2406)
  AUTHORS   Arranz,V., Harper,F., Florentin,Y., Puvion,E., Kress,M. and
            Ernoult-Lange,M.
  TITLE     Human and mouse MOK2 proteins are associated with nuclear
            ribonucleoprotein components and bind specifically to RNA and DNA
            through their zinc finger domains
  JOURNAL   Mol. Cell. Biol. 17 (4), 2116-2126 (1997)
   PUBMED   9121460
REFERENCE   9  (bases 1 to 2406)
  AUTHORS   Arranz,V., Kress,M. and Ernoult-Lange,M.
  TITLE     Localization of zinc finger Mok2 gene to mouse chromosome 6, a new
            region of homology with human chromosome 19
  JOURNAL   Mamm. Genome 7 (1), 77-78 (1996)
   PUBMED   8903737
REFERENCE   10 (bases 1 to 2406)
  AUTHORS   Ernoult-Lange,M., Arranz,V., Le Coniat,M., Berger,R. and Kress,M.
  TITLE     Human and mouse Kruppel-like (MOK2) orthologue genes encode two
            different zinc finger proteins
  JOURNAL   J. Mol. Evol. 41 (6), 784-794 (1995)
   PUBMED   8587123
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            X82125.1, BC026030.1 and AL450326.30.
            On Jun 28, 2007 this sequence version replaced gi:5032244.
            
            Summary: MOK2 proteins are DNA- and RNA-binding proteins that are
            mainly associated with nuclear RNP components, including the
            nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed
            9121460]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X82125.1, CR993453.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025082, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1167              X82125.1           1-1167
            1168-2361           BC026030.1         793-1986
            2362-2363           AL450326.30        153935-153936       c
            2364-2406           BC026030.1         1989-2031
FEATURES             Location/Qualifiers
     source          1..2406
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22-q11.23"
     gene            1..2406
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="zinc finger protein 239"
                     /db_xref="GeneID:8187"
                     /db_xref="HGNC:13031"
                     /db_xref="MIM:601069"
     exon            1..561
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    303..305
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="upstream in-frame stop codon"
     exon            562..2389
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /inference="alignment:Splign:1.39.8"
     CDS             654..2030
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="zinc finger protein (C2H2) homologous to mouse
                     MOK-2; zinc finger protein MOK-2; zinc finger protein
                     HOK-2"
                     /codon_start=1
                     /product="zinc finger protein 239"
                     /protein_id="NP_005665.2"
                     /db_xref="GI:149999356"
                     /db_xref="CCDS:CCDS41502.1"
                     /db_xref="GeneID:8187"
                     /db_xref="HGNC:13031"
                     /db_xref="MIM:601069"
                     /translation="
MASTITGSQDCIVNHRGEVDGEPELDISPCQQWGEASSPISRNRDSVMTLQSGCFENIESETYLPLKVSSQIDTQDSSVKFCKNEPQDHQESRRLFVMEESTERKVIKGESCSENLQVKLVSDGQELASPLLNGEATCQNGQLKESLDPIDCNCKDIHGWKSQVVSCSQQRAHTEEKPCDHNNCGKILNTSPDGHPYEKIHTAEKQYECSQCGKNFSQSSELLLHQRDHTEEKPYKCEQCGKGFTRSSSLLIHQAVHTDEKPYKCDKCGKGFTRSSSLLIHHAVHTGEKPYKCDKCGKGFSQSSKLHIHQRVHTGEKPYECEECGMSFSQRSNLHIHQRVHTGERPYKCGECGKGFSQSSNLHIHRCIHTGEKPYQCYECGKGFSQSSDLRIHLRVHTGEKPYHCGKCGKGFSQSSKLLIHQRVHTGEKPYECSKCGKGFSQSSNLHIHQRVHKKDPR
"
     misc_feature    <1230..1832
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="FOG: Zn-finger [General function prediction only];
                     Region: COG5048"
                     /db_xref="CDD:34653"
     misc_feature    1314..1391
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="Zinc-finger double domain; Region: zf-H2C2_2;
                     pfam13465"
                     /db_xref="CDD:205643"
     misc_feature    1398..1475
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="Zinc-finger double domain; Region: zf-H2C2_2;
                     pfam13465"
                     /db_xref="CDD:205643"
     misc_feature    1482..1559
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="Zinc-finger double domain; Region: zf-H2C2_2;
                     pfam13465"
                     /db_xref="CDD:205643"
     misc_feature    1578..1643
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="Zinc-finger double domain; Region: zf-H2C2_2;
                     pfam13465"
                     /db_xref="CDD:205643"
     misc_feature    1662..1727
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="Zinc-finger double domain; Region: zf-H2C2_2;
                     pfam13465"
                     /db_xref="CDD:205643"
     misc_feature    1818..1895
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="Zinc-finger double domain; Region: zf-H2C2_2;
                     pfam13465"
                     /db_xref="CDD:205643"
     misc_feature    1905..1979
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /note="Zinc-finger double domain; Region: zf-H2C2_2;
                     pfam13465"
                     /db_xref="CDD:205643"
     variation       1168
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2230660"
     variation       1278
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2230661"
     variation       1451
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1128865"
     variation       1996
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1128868"
     STS             2041..2242
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
                     /standard_name="RH79937"
                     /db_xref="UniSTS:87205"
     polyA_site      2389
                     /gene="ZNF239"
                     /gene_synonym="HOK-2; MOK2"
ORIGIN      
ctagtcccgattatggttattacagtttgatgaaatgtggctgagatcattggcactgtggagattaagaaatgtgaggtcagagtgttgggtaaattgttcctgcgagtgttaaggttgtcaggataatggtgggaatggggtgaagatgacaactcagcaatgacacaagaagagagtgacacagaaagattcagtagctgagaacttgagcgtagatatgttgtgggcaggagggaaatgatttggatggaagtagccaagtaagtgagaaaggaaagactttccaacaaaacttggcttagctcactcagatccctgagctgcaaacttcttctatacctttcttaccttttccagtgctgctgacttcaccccacttgcagggcatttgtgcagatggttgtttgttgaggaggaatgtgcttaatgttttaggaaccagttacattcaaggatgcctctgtggccttcaccgaggaggagtgaggtcacctggactctgctcccaggaagctgtgcggagctgtgatgctgggcaactacagaaacttggtcttggagacttgaatgaaaattctgtggagaatcttcagcagaaaacacttcaggatctgttacatgagctttcctcctggctagttttggaaggcatggccagtacaattactggaagtcaggattgtattgtgaatcatcgaggggaagtggatggggagcctgaactagatatttccccttgtcaacagtggggagaagcatcttctcctatttccagaaacagggacagtgtgatgactcttcaaagtggttgtttcgaaaacattgaaagtgaaacatatttgcctttgaaagtctcaagccaaatagacacacaagactcttcagtgaagttctgtaagaatgagcctcaggatcatcaggaaagcagacgtctctttgtaatggaagaaagcactgagagaaaagtgataaagggggaaagttgttcagagaaccttcaagttaaactggtgtctgatggacaagaactggcctcgccattgttaaatggtgaggcaacttgccagaatggccagttaaaagaatctttggatcccattgactgtaactgcaaagacattcatggatggaaatcacaggtggtcagttgtagtcagcagagagctcatacagaggagaaaccctgtgaccataataactgtgggaaaatacttaacaccagcccagatggtcatccatatgagaaaatccacactgcagagaaacaatacgaatgtagtcagtgtggtaagaacttcagtcaaagctcagagctactacttcatcagagagaccacacagaagaaaaaccctacaaatgtgagcaatgtgggaagggcttcacaaggagctcgagtctgcttatccatcaggcagtccacacagatgagaagccttataagtgtgacaagtgtgggaagggcttcaccaggagctcaagtctgctcatccatcatgccgtccatacaggcgaaaaaccttataaatgtgacaagtgtgggaagggctttagtcagagctccaaactgcacatccaccagcgagtccacactggagagaagccctatgagtgtgaggagtgtggtatgagcttcagtcagcgctcaaacctgcacatccaccagcgagtacacacaggagagaggccctacaagtgtggtgagtgtgggaagggcttcagtcagagctcgaaccttcacattcaccggtgcatccacacaggagagaagccttaccaatgctatgagtgtgggaagggtttcagccagagctcggatcttcgcatccatctcagagtccacactggagagaagccctatcactgtggcaagtgtgggaagggatttagccagagttccaaactcctcatccaccagagagtacatactggagagaagccctatgagtgcagcaagtgtgggaagggcttcagccagagctccaaccttcacatccaccagcgggttcacaagaaagatcctcgctaactgacattagcccattcaggtcttcacagcgctcatactgtaaaaactgttaaatatttagtatcactcttactttatattctacaaaggagagagatgtaagggttatttagatatgttccctcactgaaaaatcactcattcaaaatatttaagtatcaagcactttgttatgctgtacaatgaatggattgttcttgtttctcagatgggtagagtaaaagtgtctgtactttacaattcaactacatgttctacccagcattttaacggcaagaactttatatttattctcaagcagggcatgtttccctttgttcacattctctgagaaattgaaactctggtttctcttcaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:8187 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
            GeneID:8187 -> Molecular function: GO:0003723 [RNA binding] evidence: TAS
            GeneID:8187 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
            GeneID:8187 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:8187 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
            GeneID:8187 -> Cellular component: GO:0005634 [nucleus] evidence: IEA

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.