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    ZNF34 zinc finger protein 34 [ Homo sapiens (human) ]

    Gene ID: 80778, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF34provided by HGNC
    Official Full Name
    zinc finger protein 34provided by HGNC
    Primary source
    HGNC:HGNC:13098
    See related
    Ensembl:ENSG00000196378 MIM:194526; AllianceGenome:HGNC:13098
    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
    KOX32
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 2.4), thyroid (RPKM 1.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    8q24.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144772224..144787317, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145945720..145960823, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145997609..146012702, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 251 Neighboring gene uncharacterized LOC107986986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145987405-145988352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145990589-145991192 Neighboring gene uncharacterized LOC105375805 Neighboring gene Sharpr-MPRA regulatory region 4846 Neighboring gene Sharpr-MPRA regulatory region 10254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28103 Neighboring gene RNA, 7SL, cytoplasmic 395, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:146015453-146015954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:146015955-146016454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19709 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146018867-146019815 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146021109-146022007 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146022008-146022906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19712 Neighboring gene microRNA 6850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146024705-146025602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146025603-146026501 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146026502-146027399 Neighboring gene ribosomal protein L8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28105 Neighboring gene zinc finger protein 517 Neighboring gene uncharacterized LOC100130027

    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. Novel variants in ZNF34 and other brain-expressed transcription factors are shared among early-onset MDD relatives. Subaran RL, et al. Am J Med Genet B Neuropsychiatr Genet, 2016 Apr. PMID 26823146, Free PMC Article
    2. A BanII RFLP in the ZNF34 zinc finger gene on chromosome 8. La Pillo B, et al. Hum Mol Genet, 1993 Aug. PMID 8104631
    3. Twenty-seven nonoverlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering. Huebner K, et al. Am J Hum Genet, 1991 Apr. PMID 2014798, Free PMC Article
    4. ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest. Noguchi A, et al. Biol Open, 2018 Mar 12. PMID 29449217, Free PMC Article
    5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. genes encoding transcription factors expressed in the brain might be an important group of major depressive disorder candidate genes.
      Title: Novel variants in ZNF34 and other brain-expressed transcription factors are shared among early-onset MDD relatives.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Clone Names

    • MGC10520

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 34
    Names
    zinc finger protein 34 (KOX 32)
    zinc finger protein KOX32

    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_001286769.2 → NP_001273698.1  zinc finger protein 34 isoform 2

      See identical proteins and their annotated locations for NP_001273698.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AF235103, AL833814, W43004
      Consensus CDS
      CCDS69562.1
      UniProtKB/TrEMBL
      A0A0C4DG42
      Related
      ENSP00000396894.2, ENST00000429371.7
      Conserved Domains (3) summary
      smart00349
      Location:14 → 76
      KRAB; krueppel associated box
      COG5048
      Location:167 → 533
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:372 → 392
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001286770.2 → NP_001273699.1  zinc finger protein 34 isoform 3

      See identical proteins and their annotated locations for NP_001273699.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the central coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AF235103, BP199961, W43004
      Conserved Domains (6) summary
      smart00349
      Location:35 → 101
      KRAB; krueppel associated box
      COG5048
      Location:148 → 514
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:353 → 373
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:267 → 289
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:35 → 74
      KRAB; KRAB box
      pfam13465
      Location:421 → 446
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001378027.1 → NP_001364956.1  zinc finger protein 34 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AF235103
      Consensus CDS
      CCDS69562.1
      UniProtKB/TrEMBL
      A0A0C4DG42
      Conserved Domains (3) summary
      smart00349
      Location:14 → 76
      KRAB; krueppel associated box
      COG5048
      Location:167 → 533
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:372 → 392
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_001378028.1 → NP_001364957.1  zinc finger protein 34 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AF235103
      Consensus CDS
      CCDS69562.1
      UniProtKB/TrEMBL
      A0A0C4DG42
      Conserved Domains (3) summary
      smart00349
      Location:14 → 76
      KRAB; krueppel associated box
      COG5048
      Location:167 → 533
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:372 → 392
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. NM_001378029.1 → NP_001364958.1  zinc finger protein 34 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AF235103
      Conserved Domains (3) summary
      smart00349
      Location:14 → 80
      KRAB; krueppel associated box
      COG5048
      Location:127 → 493
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:332 → 352
      ZF_C2H2; C2H2 Zn finger [structural motif]

    6. NM_030580.5 → NP_085057.3  zinc finger protein 34 isoform 1

      See identical proteins and their annotated locations for NP_085057.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF235103, BC004480, W43004
      Consensus CDS
      CCDS47945.1
      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0
      Related
      ENSP00000341528.4, ENST00000343459.8
      Conserved Domains (6) summary
      smart00349
      Location:35 → 97
      KRAB; krueppel associated box
      COG5048
      Location:188 → 554
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:393 → 413
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:307 → 329
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:35 → 74
      KRAB; KRAB box
      pfam13465
      Location:461 → 486
      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144772224..144787317 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422270.1 → XP_047278226.1  zinc finger protein 34 isoform X1

      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0

    2. XM_047422271.1 → XP_047278227.1  zinc finger protein 34 isoform X1

      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0

    3. XM_047422274.1 → XP_047278230.1  zinc finger protein 34 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DG42

    4. XM_047422269.1 → XP_047278225.1  zinc finger protein 34 isoform X1

      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0

    5. XM_047422272.1 → XP_047278228.1  zinc finger protein 34 isoform X1

      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0

    6. XM_011517314.3 → XP_011515616.1  zinc finger protein 34 isoform X1

      See identical proteins and their annotated locations for XP_011515616.1

      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0
      Conserved Domains (6) summary
      smart00349
      Location:35 → 97
      KRAB; krueppel associated box
      COG5048
      Location:188 → 554
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:393 → 413
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:307 → 329
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:35 → 74
      KRAB; KRAB box
      pfam13465
      Location:461 → 486
      zf-H2C2_2; Zinc-finger double domain

    7. XM_011517318.3 → XP_011515620.1  zinc finger protein 34 isoform X2

      See identical proteins and their annotated locations for XP_011515620.1

      UniProtKB/TrEMBL
      A0A0C4DG42
      Conserved Domains (3) summary
      smart00349
      Location:14 → 76
      KRAB; krueppel associated box
      COG5048
      Location:167 → 533
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:372 → 392
      ZF_C2H2; C2H2 Zn finger [structural motif]

    8. XM_047422273.1 → XP_047278229.1  zinc finger protein 34 isoform X1

      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0

    9. XM_047422275.1 → XP_047278231.1  zinc finger protein 34 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DG42

    10. XM_047422276.1 → XP_047278232.1  zinc finger protein 34 isoform X3

    11. XM_017013874.2 → XP_016869363.1  zinc finger protein 34 isoform X1

      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0
      Conserved Domains (6) summary
      smart00349
      Location:35 → 97
      KRAB; krueppel associated box
      COG5048
      Location:188 → 554
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:393 → 413
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:307 → 329
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:35 → 74
      KRAB; KRAB box
      pfam13465
      Location:461 → 486
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145945720..145960823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361294.1 → XP_054217269.1  zinc finger protein 34 isoform X1

      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0

    2. XM_054361295.1 → XP_054217270.1  zinc finger protein 34 isoform X1

      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0

    3. XM_054361297.1 → XP_054217272.1  zinc finger protein 34 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DG42

    4. XM_054361298.1 → XP_054217273.1  zinc finger protein 34 isoform X3

    5. XM_054361296.1 → XP_054217271.1  zinc finger protein 34 isoform X1

      UniProtKB/Swiss-Prot
      D3DWN1, Q8IZ26, Q9BSZ0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZ26.3 GenPept UniProtKB/Swiss-Prot:Q8IZ26

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