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    ZNF382 zinc finger protein 382 [ Homo sapiens (human) ]

    Gene ID: 84911, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF382provided by HGNC
    Official Full Name
    zinc finger protein 382provided by HGNC
    Primary source
    HGNC:HGNC:17409
    See related
    Ensembl:ENSG00000161298 MIM:609516; AllianceGenome:HGNC:17409
    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
    KS1
    Summary
    This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
    Expression
    Broad expression in brain (RPKM 2.5), testis (RPKM 1.9) and 22 other tissues See more
    Orthologs
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    Genomic context

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    See ZNF382 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (36605313..36634114)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (39280598..39309416)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (37096215..37125016)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:37018470-37019180 and GRCh37_chr19:37019181-37019889 Neighboring gene zinc finger protein 260 Neighboring gene zinc finger protein 529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14527 Neighboring gene ZNF529 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14529 Neighboring gene zinc finger protein 461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14530 Neighboring gene zinc finger protein 567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14531 Neighboring gene ZNF567 divergent transcript

    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. ZNF382: A transcription inhibitor down-regulated in multiple tumors due to promoter methylation. Chen S, et al. Clin Chim Acta, 2020 Jan. PMID 31678273
    2. Dynamic expression of ZNF382 and its tumor-suppressor role in hepatitis B virus-related hepatocellular carcinogenesis. Dang S, et al. Oncogene, 2019 Jun. PMID 30804458
    3. KRAB zinc-finger protein 382 regulates epithelial-mesenchymal transition and functions as a tumor suppressor, but is silenced by CpG methylation in gastric cancer. Pei L, et al. Int J Oncol, 2018 Sep. PMID 29956735, Free PMC Article
    4. The novel 19q13 KRAB zinc-finger tumour suppressor ZNF382 is frequently methylated in oesophageal squamous cell carcinoma and antagonises Wnt/β-catenin signalling. Zhang C, et al. Cell Death Dis, 2018 May 1. PMID 29760376, Free PMC Article
    5. Zinc finger protein 382 is downregulated by promoter hypermethylation in pediatric acute myeloid leukemia patients. Tao YF, et al. Int J Mol Med, 2014 Dec. PMID 25319049, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Three Protein-Coding Gene Prognostic Model Predicts Overall Survival in Bladder Cancer Patients.
      Title: A Three Protein-Coding Gene Prognostic Model Predicts Overall Survival in Bladder Cancer Patients.
    2. ZNF382 is downregulated in multiple tumors due to hypermethylation of its promoter
      Title: ZNF382: A transcription inhibitor down-regulated in multiple tumors due to promoter methylation.
    3. ZNF382 acts as a tumor suppressor, and is co-regulated by HBx and epigenetic mechanism in Hepatitis B virus-related hepatocellular carcinogenesis.
      Title: Dynamic expression of ZNF382 and its tumor-suppressor role in hepatitis B virus-related hepatocellular carcinogenesis.
    4. findings demonstrate that ZNF382 functions as a bona fide tumour suppressor inhibiting oesophageal squamous cell carcinoma pathogenesis through inhibiting the Wnt/beta-catenin signalling pathway.
      Title: The novel 19q13 KRAB zinc-finger tumour suppressor ZNF382 is frequently methylated in oesophageal squamous cell carcinoma and antagonises Wnt/β-catenin signalling.
    5. Study suggests that ZNF382 functions as a tumor suppressor in gastric cancer (GC) cells, but is frequently methylated in both GC cell lines and primary gastric tumors.
      Title: KRAB zinc-finger protein 382 regulates epithelial-mesenchymal transition and functions as a tumor suppressor, but is silenced by CpG methylation in gastric cancer.
    6. Methylation changes of GFRA1, SRF, and ZNF382 may be a potential biomarker set for prediction of gastric carcinoma metastasis.
      Title: Large-scale characterization of DNA methylation changes in human gastric carcinomas with and without metastasis.
    7. Data suggests that zinc finger protein 382 (ZNF382) may be considered a putative tumor suppressor gene in pediatric acute myeloid leukemia (AML).
      Title: Zinc finger protein 382 is downregulated by promoter hypermethylation in pediatric acute myeloid leukemia patients.
    8. Expression of MAGE I proteins, MAGE-A3 or MAGE-C2, relieved repression of a reporter gene by ZNF382 and MAGE I expression relieved KAP1 mediated ID1 repression.
      Title: MAGE I transcription factors regulate KAP1 and KRAB domain zinc finger transcription factor mediated gene repression.
    9. ZNF382 is a functional tumor suppressor frequently methylated in multiple carcinomas.
      Title: KRAB zinc finger protein ZNF382 is a proapoptotic tumor suppressor that represses multiple oncogenes and is commonly silenced in multiple carcinomas.
    10. mapped to chromosome 19q13.13; transcript specific for ZNF382 is expressed at very early embryonic stage; at the adult stage, ZNF382 expression is restricted largely to heart tissue
      Title: Expression of a novel Krüpple-like zinc-finger gene, ZNF382, in human heart.
    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

    Clone Names

    • FLJ14686

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity 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
    		  
    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 nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 382
    Names
    KRAB/zinc finger suppressor protein 1
    multiple zinc finger and krueppel-associated box protein KS1

    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_001256838.2 → NP_001243767.1  zinc finger protein 382 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and initiates translation at an upstream start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC074138, AF513816, BC132675, CD690493
      Consensus CDS
      CCDS58659.1
      UniProtKB/Swiss-Prot
      Q96SR6
      Related
      ENSP00000407593.1, ENST00000439428.5
      Conserved Domains (4) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:353 → 532
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:381 → 401
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:309 → 334
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001398490.1 → NP_001385419.1  zinc finger protein 382 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC074138, AC092295
      Consensus CDS
      CCDS33004.1
      UniProtKB/Swiss-Prot
      A3KMP6, A8MT55, C9K0V5, Q53ZY8, Q5JPJ2, Q96SR6
      Conserved Domains (4) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:354 → 533
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:382 → 402
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:310 → 335
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001398491.1 → NP_001385420.1  zinc finger protein 382 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC074138, AC092295
      Consensus CDS
      CCDS33004.1
      UniProtKB/Swiss-Prot
      A3KMP6, A8MT55, C9K0V5, Q53ZY8, Q5JPJ2, Q96SR6
      Conserved Domains (4) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:354 → 533
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:382 → 402
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:310 → 335
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001398492.1 → NP_001385421.1  zinc finger protein 382 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC074138, AC092295
      Consensus CDS
      CCDS58659.1
      Conserved Domains (4) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:353 → 532
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:381 → 401
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:309 → 334
      zf-H2C2_2; Zinc-finger double domain

    5. NM_032825.5 → NP_116214.2  zinc finger protein 382 isoform 1

      See identical proteins and their annotated locations for NP_116214.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC074138, AF513816, CD690493
      Consensus CDS
      CCDS33004.1
      UniProtKB/Swiss-Prot
      A3KMP6, A8MT55, C9K0V5, Q53ZY8, Q5JPJ2, Q96SR6
      Related
      ENSP00000292928.2, ENST00000292928.7
      Conserved Domains (4) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:354 → 533
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:382 → 402
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:310 → 335
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      36605313..36634114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      39280598..39309416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SR6.3 GenPept UniProtKB/Swiss-Prot:Q96SR6

    Gene LinkOut

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