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

Gene ID: 388558, updated on 11-Apr-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 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
Summary
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
19q13.41
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (52527668..52568753)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (55612258..55653724)
105.20220307 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. 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
  2. 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
  3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
  4. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article
  5. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article

See all (12) 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)

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 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_2023_10

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

Gene LinkOut

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