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    ZNF208 zinc finger protein 208 [ Homo sapiens (human) ]

    Gene ID: 7757, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF208provided by HGNC
    Official Full Name
    zinc finger protein 208provided by HGNC
    Primary source
    HGNC:HGNC:12999
    See related
    Ensembl:ENSG00000160321 MIM:603977; AllianceGenome:HGNC:12999
    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
    PMIDP; ZNF95
    Summary
    Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009]
    Expression
    Broad expression in thyroid (RPKM 2.0), testis (RPKM 1.5) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF208 in Genome Data Viewer
    Location:
    19p12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (21939815..22010943, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (22078235..22149333, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (22122617..22193745, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372326 Neighboring gene uncharacterized LOC105372325 Neighboring gene MPRA-validated peak3414 silencer Neighboring gene metadherin pseudogene 2 Neighboring gene uncharacterized LOC124904672 Neighboring gene BCL2 interacting protein 3 pseudogene 28 Neighboring gene uncharacterized LOC112268248 Neighboring gene zinc finger protein 257 Neighboring gene BCL2 interacting protein 3 pseudogene 29

    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. ZNF208 polymorphisms associated with ischemic stroke in a southern Chinese Han population. Yu J, et al. J Gene Med, 2017 Jan. PMID 27936511
    2. Genetic variants in the ZNF208 gene are associated with esophageal cancer in a Chinese Han population. Wang H, et al. Oncotarget, 2016 Dec 27. PMID 27907911, Free PMC Article
    3. Complex beta-satellite repeat structures and the expansion of the zinc finger gene cluster in 19p12. Eichler EE, et al. Genome Res, 1998 Aug. PMID 9724325
    4. Sry associates with the heterochromatin protein 1 complex by interacting with a KRAB domain protein. Oh HJ, et al. Biol Reprod, 2005 Feb. PMID 15469996
    5. Clustered organization of homologous KRAB zinc-finger genes with enhanced expression in human T lymphoid cells. Bellefroid EJ, et al. EMBO J, 1993 Apr. PMID 8467795, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator 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 zinc ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    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 nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 208
    Names
    zinc finger protein 95

    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_001329971.2 → NP_001316900.1  zinc finger protein 208 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC003973

    2. NM_001329972.1 → NP_001316901.1  zinc finger protein 208 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC003973

    3. NM_001329973.1 → NP_001316902.1  zinc finger protein 208 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC003973

    4. NM_001329974.2 → NP_001316903.1  zinc finger protein 208 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC003973
      Consensus CDS
      CCDS86734.1
      UniProtKB/TrEMBL
      M0QYK4
      Related
      ENSP00000469887.1, ENST00000601773.5

    5. NM_007153.3 → NP_009084.2  zinc finger protein 208 isoform 1

      See identical proteins and their annotated locations for NP_009084.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC003973
      Consensus CDS
      CCDS54240.1
      UniProtKB/Swiss-Prot
      O43345
      Related
      ENSP00000380315.3, ENST00000397126.9
      Conserved Domains (5) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:691 → 1133
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:667 → 687
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:511 → 536
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_138252.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC003973, BC038199, BX281273
      Related
      ENST00000597040.1

    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
      21939815..22010943 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      22078235..22149333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43345.2 GenPept UniProtKB/Swiss-Prot:O43345

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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