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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
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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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