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    ZNF408 zinc finger protein 408 [ Homo sapiens (human) ]

    Gene ID: 79797, updated on 23-Nov-2023

    Summary

    Official Symbol
    ZNF408provided by HGNC
    Official Full Name
    zinc finger protein 408provided by HGNC
    Primary source
    HGNC:HGNC:20041
    See related
    Ensembl:ENSG00000175213 MIM:616454; AllianceGenome:HGNC:20041
    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
    EVR6; RP72
    Summary
    The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in bone marrow (RPKM 5.1), ovary (RPKM 3.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ZNF408 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (46701031..46705912)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46857047..46861916)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46722581..46727462)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 32 Neighboring gene harbinger transposase derived 1 Neighboring gene autophagy related 13 Neighboring gene Rho GTPase activating protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46715957-46716456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4684 Neighboring gene coagulation factor II, thrombin Neighboring gene cytoskeleton associated protein 5 Neighboring gene microRNA 5582

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Exudative vitreoretinopathy 6
    MedGen: C4225316 OMIM: 616468 GeneReviews: Not available
    Compare labs
    Retinitis pigmentosa 72
    MedGen: C4225315 OMIM: 616469 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12827

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor 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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    zinc finger protein 408
    Names
    PR domain zinc finger protein 17

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_052967.1 RefSeqGene

      Range
      5265..10146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184751.2NP_001171680.1  zinc finger protein 408 isoform 2

      See identical proteins and their annotated locations for NP_001171680.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC115088, AK022889, AK302180, AW246726, BC015708
      UniProtKB/TrEMBL
      B4DXY4
      Conserved Domains (3) summary
      COG5048
      Location:300508
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:403423
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:474499
      zf-H2C2_2; Zinc-finger double domain
    2. NM_024741.3NP_079017.1  zinc finger protein 408 isoform 1

      See identical proteins and their annotated locations for NP_079017.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK022889, AW246726, BC015708
      Consensus CDS
      CCDS7923.1
      UniProtKB/Swiss-Prot
      Q9H9D4
      Related
      ENSP00000309606.2, ENST00000311764.3
      Conserved Domains (3) summary
      COG5048
      Location:308516
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:411431
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:482507
      zf-H2C2_2; Zinc-finger double domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      46701031..46705912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      46857047..46861916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)