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    ZNF808 zinc finger protein 808 [ Homo sapiens (human) ]

    Gene ID: 388558, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF808provided by HGNC
    Official Full Name
    zinc finger protein 808provided by HGNC
    Primary source
    HGNC:HGNC:33230
    See related
    Ensembl:ENSG00000198482 MIM:620970; AllianceGenome:HGNC:33230
    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
    PAGEN3
    Summary
    Enables transcription cis-regulatory region binding activity. Involved in cell differentiation; negative regulation of gene expression; and pancreas development. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.0), spleen (RPKM 2.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF808 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (52527668..52568753)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (55612258..55653724)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (53030921..53059589)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 534 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:52956248-52957447 Neighboring gene DUT pseudogene Neighboring gene zinc finger protein 347 pseudogene Neighboring gene zinc finger protein 578 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:52986584-52987370 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:52987371-52988156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:52990721-52991690 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:52996369-52997007 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:52997008-52997645 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53003665-53004504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53029540-53030366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53030367-53031194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53039321-53039907 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53061637-53062248 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53062249-53062862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53072140-53072749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15051 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:53073969-53074577 Neighboring gene ribosomal protein L39 pseudogene 34 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:53091538-53091757 Neighboring gene zinc finger protein 701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10995 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53104606-53105112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15054 Neighboring gene zinc finger protein 137, pseudogene Neighboring gene zinc finger protein 677-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53140536-53141054 Neighboring gene zinc finger protein 83 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53141055-53141572

    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. Primate-specific ZNF808 is essential for pancreatic development in humans. De Franco E, et al. Nat Genet, 2023 Dec. PMID 37973953, Free PMC Article
    2. Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes. Alqahtani MA, et al. Clin Genet, 2023 Oct. PMID 37308312
    3. Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes. Tsuritani K, et al. Genome Res, 2007 Jul. PMID 17567985, Free PMC Article
    4. The Nse5/6-like SIMC1-SLF2 complex localizes SMC5/6 to viral replication centers. Oravcová M, et al. Elife, 2022 Nov 14. PMID 36373674, Free PMC Article
    5. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. Kumar R, et al. Nat Commun, 2017 Nov 27. PMID 29180619, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Primate-specific ZNF808 is essential for pancreatic development in humans.
      Title: Primate-specific ZNF808 is essential for pancreatic development in humans.
    2. Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes.
      Title: Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes.
    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

    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pancreas development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 808

    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_001039886.4 → NP_001034975.2  zinc finger protein 808 isoform 1

      See identical proteins and their annotated locations for NP_001034975.2

      Status: VALIDATED

      Source sequence(s)
      AC022150, BC130353, CR749856, DA094254, DW462787
      Consensus CDS
      CCDS46167.1
      UniProtKB/Swiss-Prot
      Q68CN7, Q8N4W9
      Related
      ENSP00000352846.4, ENST00000359798.9
      Conserved Domains (4) summary
      COG5048
      Location:397 → 839
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:816 → 893
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:821 → 841
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:24 → 64
      KRAB; KRAB box

    2. NM_001321424.2 → NP_001308353.1  zinc finger protein 808 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC022150, DB082169
      Consensus CDS
      CCDS46167.1
      UniProtKB/Swiss-Prot
      Q68CN7, Q8N4W9
      Conserved Domains (4) summary
      COG5048
      Location:397 → 839
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:816 → 893
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:821 → 841
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:24 → 64
      KRAB; KRAB box

    3. NM_001321425.2 → NP_001308354.1  zinc finger protein 808 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC022150, CN411633, DB067429
      Consensus CDS
      CCDS46167.1
      UniProtKB/Swiss-Prot
      Q68CN7, Q8N4W9
      Conserved Domains (4) summary
      COG5048
      Location:397 → 839
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:816 → 893
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:821 → 841
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:24 → 64
      KRAB; KRAB box

    4. NM_001363550.2 → NP_001350479.1  zinc finger protein 808 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC022150, BP871716, DB067429
      Consensus CDS
      CCDS86799.1
      Related
      ENSP00000420522.1, ENST00000487863.5
      Conserved Domains (3) summary
      COG5048
      Location:328 → 770
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:747 → 824
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:752 → 772
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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
      52527668..52568753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258909.5 → XP_005258966.1  zinc finger protein 808 isoform X2

      See identical proteins and their annotated locations for XP_005258966.1

      UniProtKB/Swiss-Prot
      Q8N4W9
      Conserved Domains (3) summary
      COG5048
      Location:328 → 770
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:747 → 824
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:752 → 772
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. XM_024451506.2 → XP_024307274.1  zinc finger protein 808 isoform X1

      UniProtKB/Swiss-Prot
      Q68CN7, Q8N4W9
      Conserved Domains (4) summary
      COG5048
      Location:397 → 839
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:816 → 893
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:821 → 841
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:24 → 64
      KRAB; KRAB box

    3. XM_047438802.1 → XP_047294758.1  zinc finger protein 808 isoform X1

      UniProtKB/Swiss-Prot
      Q68CN7, Q8N4W9

    4. XM_024451507.2 → XP_024307275.1  zinc finger protein 808 isoform X1

      UniProtKB/Swiss-Prot
      Q68CN7, Q8N4W9
      Conserved Domains (4) summary
      COG5048
      Location:397 → 839
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:816 → 893
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:821 → 841
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:24 → 64
      KRAB; KRAB box

    RNA

    1. XR_002958314.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      55612258..55653724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320967.1 → XP_054176942.1  zinc finger protein 808 isoform X2

    2. XM_054320966.1 → XP_054176941.1  zinc finger protein 808 isoform X1

      UniProtKB/Swiss-Prot
      Q68CN7, Q8N4W9

    3. XM_054320964.1 → XP_054176939.1  zinc finger protein 808 isoform X1

      UniProtKB/Swiss-Prot
      Q68CN7, Q8N4W9

    4. XM_054320965.1 → XP_054176940.1  zinc finger protein 808 isoform X1

      UniProtKB/Swiss-Prot
      Q68CN7, Q8N4W9

    RNA

    1. XR_008485152.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4W9.2 GenPept UniProtKB/Swiss-Prot:Q8N4W9

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