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

    Gene ID: 8187, updated on 10-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (43556344..43574616, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (44437270..44455539, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. 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
    2. 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
    3. 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
    4. 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
    5. Phosphorylation-dependent binding of human transcription factor MOK2 to lamin A/C. Harper M, et al. FEBS J, 2009 Jun. PMID 19490114

    See all (24) 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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
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