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ZNF239 zinc finger protein 239 [ Homo sapiens (human) ]

Gene ID: 8187, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF239provided by HGNC
Official Full Name
zinc finger protein 239provided by HGNC
Primary source
HGNC:HGNC:13031
See related
Ensembl:ENSG00000196793 MIM:601069; AllianceGenome:HGNC:13031
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MOK2; HOK-2
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]
Expression
Broad expression in testis (RPKM 1.5), prostate (RPKM 1.2) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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See ZNF239 in Genome Data Viewer
Location:
10q11.21
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (43556344..43574616, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (44437270..44455539, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (44051792..44070064, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 487 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:43953391-43953946 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:43959685-43960348 Neighboring gene RNA, U7 small nuclear 193 pseudogene Neighboring gene zinc finger protein 12 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr10:44039642-44040155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3303 Neighboring gene coiled-coil-helix-coiled-coil-helix domain-containing protein 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3304 Neighboring gene CAP1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Phosphorylation-dependent binding of human transcription factor MOK2 to lamin A/C. Harper M, et al. FEBS J, 2009 Jun. PMID 19490114
  2. Mislocalization of human transcription factor MOK2 in the presence of pathogenic mutations of lamin A/C. Dreuillet C, et al. Biol Cell, 2008 Jan. PMID 17760566
  3. In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C. Dreuillet C, et al. Nucleic Acids Res, 2002 Nov 1. PMID 12409453, Free PMC Article
  4. Human and mouse MOK2 proteins are associated with nuclear ribonucleoprotein components and bind specifically to RNA and DNA through their zinc finger domains. Arranz V, et al. Mol Cell Biol, 1997 Apr. PMID 9121460, Free PMC Article
  5. Human and mouse Krüppel-like (MOK2) orthologue genes encode two different zinc finger proteins. Ernoult-Lange M, et al. J Mol Evol, 1995 Dec. PMID 8587123

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms in predicted miRNA binding sites and osteoporosis.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    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.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  4. 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.
    Title: Phosphorylation-dependent binding of human transcription factor MOK2 to lamin A/C.
  5. Results indicate that pathogenic mutations in lamin A/C lead to sequestration of hsMOK2 into nuclear aggregates, which may deregulate MOK2 target genes.
    Title: Mislocalization of human transcription factor MOK2 in the presence of pathogenic mutations of lamin A/C.
  6. In this study, we identify a novel interaction between lamin A/C and hsMOK2 by using the yeast two-hybrid system
    Title: In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables RNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
zinc finger protein 239
Names
zinc finger protein (C2H2) homologous to mouse MOK-2
zinc finger protein HOK-2
zinc finger protein MOK-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001099282.2 → NP_001092752.1  zinc finger protein 239 isoform a

    See identical proteins and their annotated locations for NP_001092752.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-9 all encode the same isoform (a).
    Source sequence(s)
    AL450326, BC026030
    Consensus CDS
    CCDS41502.1
    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Related
    ENSP00000363569.1, ENST00000374446.7
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001099283.2 → NP_001092753.1  zinc finger protein 239 isoform a

    See identical proteins and their annotated locations for NP_001092753.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-9 all encode the same isoform (a).
    Source sequence(s)
    AL450326, BC026030, DA686973
    Consensus CDS
    CCDS41502.1
    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Related
    ENSP00000443907.1, ENST00000535642.5
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001099284.2 → NP_001092754.1  zinc finger protein 239 isoform a

    See identical proteins and their annotated locations for NP_001092754.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-9 all encode the same isoform (a).
    Source sequence(s)
    AL450326, BC026030, DA937379
    Consensus CDS
    CCDS41502.1
    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Related
    ENSP00000398202.1, ENST00000426961.1
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

  4. NM_001324347.2 → NP_001311276.1  zinc finger protein 239 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 1-4 and 6-9, encodes isoform a.
    Source sequence(s)
    AL450326
    Consensus CDS
    CCDS41502.1
    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

  5. NM_001324348.2 → NP_001311277.1  zinc finger protein 239 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 1-5 and 7-9, encodes isoform a.
    Source sequence(s)
    AL450326
    Consensus CDS
    CCDS41502.1
    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

  6. NM_001324349.2 → NP_001311278.1  zinc finger protein 239 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variants 1-6 and 8-9, encodes isoform a.
    Source sequence(s)
    AL450326
    Consensus CDS
    CCDS41502.1
    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

  7. NM_001324350.2 → NP_001311279.1  zinc finger protein 239 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 1-7 and 9, encodes isoform a.
    Source sequence(s)
    AL450326
    Consensus CDS
    CCDS41502.1
    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

  8. NM_001324351.2 → NP_001311280.1  zinc finger protein 239 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variants 1-8, encodes isoform a.
    Source sequence(s)
    AL450326, DN994387
    Consensus CDS
    CCDS41502.1
    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

  9. NM_001324352.2 → NP_001311281.1  zinc finger protein 239 isoform b

    Status: VALIDATED

    Source sequence(s)
    AL450326, DA597035
    Conserved Domains (4) summary
    COG5048
    Location:235 → 435
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:419 → 439
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:417 → 439
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:431 → 456
    zf-H2C2_2; Zinc-finger double domain

  10. NM_001324353.2 → NP_001311282.1  zinc finger protein 239 isoform c

    Status: VALIDATED

    Source sequence(s)
    AL450326, CK820210

  11. NM_005674.3 → NP_005665.2  zinc finger protein 239 isoform a

    See identical proteins and their annotated locations for NP_005665.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-9 all encode the same isoform (a).
    Source sequence(s)
    AL450326, BC026030, X82125
    Consensus CDS
    CCDS41502.1
    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Related
    ENSP00000307774.6, ENST00000306006.10
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    43556344..43574616 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540234.3 → XP_011538536.1  zinc finger protein 239 isoform X3

    See identical proteins and their annotated locations for XP_011538536.1

    Conserved Domains (4) summary
    COG5048
    Location:235 → 435
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:419 → 439
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:417 → 439
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:431 → 456
    zf-H2C2_2; Zinc-finger double domain

  2. XM_011540235.3 → XP_011538537.1  zinc finger protein 239 isoform X3

    See identical proteins and their annotated locations for XP_011538537.1

    Conserved Domains (4) summary
    COG5048
    Location:235 → 435
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:419 → 439
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:417 → 439
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:431 → 456
    zf-H2C2_2; Zinc-finger double domain

  3. XM_017016740.2 → XP_016872229.1  zinc finger protein 239 isoform X3

    Conserved Domains (4) summary
    COG5048
    Location:235 → 435
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:419 → 439
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:417 → 439
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:431 → 456
    zf-H2C2_2; Zinc-finger double domain

  4. XM_047425807.1 → XP_047281763.1  zinc finger protein 239 isoform X1

  5. XM_011540232.4 → XP_011538534.1  zinc finger protein 239 isoform X1

    Conserved Domains (4) summary
    COG5048
    Location:337 → 537
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:521 → 541
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:519 → 541
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:533 → 558
    zf-H2C2_2; Zinc-finger double domain

  6. XM_047425808.1 → XP_047281764.1  zinc finger protein 239 isoform X2

  7. XM_011540236.3 → XP_011538538.1  zinc finger protein 239 isoform X3

    See identical proteins and their annotated locations for XP_011538538.1

    Conserved Domains (4) summary
    COG5048
    Location:235 → 435
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:419 → 439
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:417 → 439
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:431 → 456
    zf-H2C2_2; Zinc-finger double domain

  8. XM_006718003.4 → XP_006718066.1  zinc finger protein 239 isoform X5

    See identical proteins and their annotated locations for XP_006718066.1

    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

  9. XM_006718001.3 → XP_006718064.1  zinc finger protein 239 isoform X4

    Conserved Domains (4) summary
    COG5048
    Location:235 → 435
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:419 → 439
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:417 → 439
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:431 → 456
    zf-H2C2_2; Zinc-finger double domain

  10. XM_011540238.3 → XP_011538540.1  zinc finger protein 239 isoform X5

    See identical proteins and their annotated locations for XP_011538540.1

    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
    Conserved Domains (4) summary
    COG5048
    Location:193 → 393
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:377 → 397
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:375 → 397
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:389 → 414
    zf-H2C2_2; Zinc-finger double domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    44437270..44455539 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366863.1 → XP_054222838.1  zinc finger protein 239 isoform X3

  2. XM_054366864.1 → XP_054222839.1  zinc finger protein 239 isoform X3

  3. XM_054366866.1 → XP_054222841.1  zinc finger protein 239 isoform X3

  4. XM_054366860.1 → XP_054222835.1  zinc finger protein 239 isoform X1

  5. XM_054366861.1 → XP_054222836.1  zinc finger protein 239 isoform X2

  6. XM_054366865.1 → XP_054222840.1  zinc finger protein 239 isoform X3

  7. XM_054366867.1 → XP_054222842.1  zinc finger protein 239 isoform X5

    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5

  8. XM_054366862.1 → XP_054222837.1  zinc finger protein 239 isoform X4

  9. XM_054366868.1 → XP_054222843.1  zinc finger protein 239 isoform X5

    UniProtKB/Swiss-Prot
    Q16600, Q5T1G9, Q8TAS5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16600.3 GenPept UniProtKB/Swiss-Prot:Q16600

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