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

Gene ID: 84911, updated on 2-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 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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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

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