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2024-04-26 04:21:04, 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 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
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