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    ZNF142 zinc finger protein 142 [ Homo sapiens (human) ]

    Gene ID: 7701, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF142provided by HGNC
    Official Full Name
    zinc finger protein 142provided by HGNC
    Primary source
    HGNC:HGNC:12927
    See related
    Ensembl:ENSG00000115568 MIM:604083; AllianceGenome:HGNC:12927
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HA4654; pHZ-49; NEDISHM
    Summary
    The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in brain (RPKM 3.6), testis (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q35
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218633329..218659623, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219119872..219146180, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219498052..219524346, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene phospholipase C delta 4 Neighboring gene uncharacterized LOC124906133 Neighboring gene tRNA-Gln (anticodon CTG) 16-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17127 Neighboring gene BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17128 Neighboring gene ring finger protein 25 Neighboring gene serine/threonine kinase 36 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219563769-219564269

    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. ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review. Kamal N, et al. Eur J Med Genet, 2022 Jul. PMID 35618198
    2. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Christensen MB, et al. Clin Genet, 2022 Aug. PMID 35616059, Free PMC Article
    3. Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features. Kameyama S, et al. J Hum Genet, 2022 Mar. PMID 34531528
    4. Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders. Tommerup N, et al. Genomics, 1995 May 20. PMID 7557990
    5. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Ahmeti KB, et al. Neurobiol Aging, 2013 Jan. PMID 22959728, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
      Title: A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
    2. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
      Title: Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
    3. ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.
      Title: ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.
    4. Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
      Title: Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
    5. 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

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with impaired speech and hyperkinetic movements
    MedGen: C5193088 OMIM: 618425 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    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 transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription 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 molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    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 142
    Names
    zinc finger protein 142 (clone pHZ-49)

    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.

    Genomic

    1. NG_033099.2 RefSeqGene

      Range
      5000..31294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105537.4 → NP_001099007.1  zinc finger protein 142 isoform 1

      See identical proteins and their annotated locations for NP_001099007.1

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      Consensus CDS
      CCDS42817.1
      UniProtKB/Swiss-Prot
      P52746, Q92510
      Related
      ENSP00000408643.1, ENST00000449707.5
      Conserved Domains (4) summary
      PHA03247
      Location:728 → 1019
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:1538 → 1559
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1523 → 1547
      zf-H2C2_2; Zinc-finger double domain
      pfam13909
      Location:401 → 425
      zf-H2C2_5; C2H2-type zinc-finger domain

    2. NM_001366287.2 → NP_001353216.1  zinc finger protein 142 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      Conserved Domains (3) summary
      sd00017
      Location:1375 → 1396
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1360 → 1384
      zf-H2C2_2; Zinc-finger double domain
      cl26464
      Location:565 → 856
      Atrophin-1; Atrophin-1 family

    3. NM_001366288.2 → NP_001353217.1  zinc finger protein 142 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      Conserved Domains (3) summary
      sd00017
      Location:1375 → 1396
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1360 → 1384
      zf-H2C2_2; Zinc-finger double domain
      cl26464
      Location:565 → 856
      Atrophin-1; Atrophin-1 family

    4. NM_001366289.2 → NP_001353218.1  zinc finger protein 142 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      Conserved Domains (3) summary
      sd00017
      Location:1375 → 1396
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1360 → 1384
      zf-H2C2_2; Zinc-finger double domain
      cl26464
      Location:565 → 856
      Atrophin-1; Atrophin-1 family

    5. NM_001366290.3 → NP_001353219.1  zinc finger protein 142 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      Consensus CDS
      CCDS92944.1
      UniProtKB/TrEMBL
      A0A7P0N7C4
      Conserved Domains (4) summary
      PHA03247
      Location:928 → 1219
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:1738 → 1759
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1723 → 1747
      zf-H2C2_2; Zinc-finger double domain
      pfam13909
      Location:601 → 625
      zf-H2C2_5; C2H2-type zinc-finger domain

    6. NM_001366291.2 → NP_001353220.1  zinc finger protein 142 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      Consensus CDS
      CCDS42817.1
      UniProtKB/Swiss-Prot
      P52746, Q92510
      Conserved Domains (4) summary
      PHA03247
      Location:728 → 1019
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:1538 → 1559
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1523 → 1547
      zf-H2C2_2; Zinc-finger double domain
      pfam13909
      Location:401 → 425
      zf-H2C2_5; C2H2-type zinc-finger domain

    7. NM_001367339.1 → NP_001354268.1  zinc finger protein 142 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      UniProtKB/TrEMBL
      F2Z2H3

    8. NM_001367340.1 → NP_001354269.1  zinc finger protein 142 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      UniProtKB/TrEMBL
      F2Z2H3

    9. NM_001367341.1 → NP_001354270.1  zinc finger protein 142 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      UniProtKB/TrEMBL
      F2Z2H3

    10. NM_001367342.1 → NP_001354271.1  zinc finger protein 142 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      UniProtKB/TrEMBL
      F2Z2H3

    11. NM_001379659.1 → NP_001366588.1  zinc finger protein 142 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      Consensus CDS
      CCDS92944.1
      UniProtKB/TrEMBL
      A0A7P0N7C4
      Related
      ENSP00000398798.3, ENST00000411696.7
      Conserved Domains (4) summary
      PHA03247
      Location:928 → 1219
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:1738 → 1759
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1723 → 1747
      zf-H2C2_2; Zinc-finger double domain
      pfam13909
      Location:601 → 625
      zf-H2C2_5; C2H2-type zinc-finger domain

    12. NM_001379660.1 → NP_001366589.1  zinc finger protein 142 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      Consensus CDS
      CCDS92944.1
      UniProtKB/TrEMBL
      A0A7P0N7C4
      Conserved Domains (4) summary
      PHA03247
      Location:928 → 1219
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:1738 → 1759
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1723 → 1747
      zf-H2C2_2; Zinc-finger double domain
      pfam13909
      Location:601 → 625
      zf-H2C2_5; C2H2-type zinc-finger domain

    13. NM_001379661.1 → NP_001366590.1  zinc finger protein 142 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      Consensus CDS
      CCDS92944.1
      UniProtKB/TrEMBL
      A0A7P0N7C4
      Conserved Domains (4) summary
      PHA03247
      Location:928 → 1219
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:1738 → 1759
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1723 → 1747
      zf-H2C2_2; Zinc-finger double domain
      pfam13909
      Location:601 → 625
      zf-H2C2_5; C2H2-type zinc-finger domain

    14. NM_001379662.1 → NP_001366591.1  zinc finger protein 142 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC012510, AC079810
      Consensus CDS
      CCDS42817.1
      UniProtKB/Swiss-Prot
      P52746, Q92510
      Conserved Domains (4) summary
      PHA03247
      Location:728 → 1019
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:1538 → 1559
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1523 → 1547
      zf-H2C2_2; Zinc-finger double domain
      pfam13909
      Location:401 → 425
      zf-H2C2_5; C2H2-type zinc-finger 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      218633329..218659623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445782.1 → XP_047301738.1  zinc finger protein 142 isoform X2

      UniProtKB/Swiss-Prot
      P52746, Q92510

    2. XM_011511788.3 → XP_011510090.1  zinc finger protein 142 isoform X1

      See identical proteins and their annotated locations for XP_011510090.1

      UniProtKB/TrEMBL
      A0A7P0N7C4
      Conserved Domains (4) summary
      PHA03247
      Location:928 → 1219
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:1738 → 1759
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1723 → 1747
      zf-H2C2_2; Zinc-finger double domain
      pfam13909
      Location:601 → 625
      zf-H2C2_5; C2H2-type zinc-finger domain

    3. XM_047445780.1 → XP_047301736.1  zinc finger protein 142 isoform X2

      UniProtKB/Swiss-Prot
      P52746, Q92510

    4. XM_011511786.3 → XP_011510088.1  zinc finger protein 142 isoform X1

      See identical proteins and their annotated locations for XP_011510088.1

      UniProtKB/TrEMBL
      A0A7P0N7C4
      Conserved Domains (4) summary
      PHA03247
      Location:928 → 1219
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:1738 → 1759
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1723 → 1747
      zf-H2C2_2; Zinc-finger double domain
      pfam13909
      Location:601 → 625
      zf-H2C2_5; C2H2-type zinc-finger domain

    5. XM_047445781.1 → XP_047301737.1  zinc finger protein 142 isoform X2

      UniProtKB/Swiss-Prot
      P52746, Q92510

    6. XM_047445778.1 → XP_047301734.1  zinc finger protein 142 isoform X2

      UniProtKB/Swiss-Prot
      P52746, Q92510

    7. XM_047445779.1 → XP_047301735.1  zinc finger protein 142 isoform X2

      UniProtKB/Swiss-Prot
      P52746, Q92510

    8. XM_047445777.1 → XP_047301733.1  zinc finger protein 142 isoform X1

      UniProtKB/TrEMBL
      A0A7P0N7C4

    9. XM_047445784.1 → XP_047301740.1  zinc finger protein 142 isoform X4

    10. XM_047445783.1 → XP_047301739.1  zinc finger protein 142 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219119872..219146180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343808.1 → XP_054199783.1  zinc finger protein 142 isoform X2

    2. XM_054343803.1 → XP_054199778.1  zinc finger protein 142 isoform X1

    3. XM_054343806.1 → XP_054199781.1  zinc finger protein 142 isoform X2

    4. XM_054343802.1 → XP_054199777.1  zinc finger protein 142 isoform X1

    5. XM_054343807.1 → XP_054199782.1  zinc finger protein 142 isoform X2

    6. XM_054343804.1 → XP_054199779.1  zinc finger protein 142 isoform X2

    7. XM_054343805.1 → XP_054199780.1  zinc finger protein 142 isoform X2

    8. XM_054343801.1 → XP_054199776.1  zinc finger protein 142 isoform X1

    9. XM_054343810.1 → XP_054199785.1  zinc finger protein 142 isoform X4

    10. XM_054343809.1 → XP_054199784.1  zinc finger protein 142 isoform X3

    RNA

    1. XR_008486510.1 RNA Sequence

    2. XR_008486511.1 RNA Sequence

    3. XR_008486509.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52746.4 GenPept UniProtKB/Swiss-Prot:P52746

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