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    ZIC5 Zic family member 5 [ Homo sapiens (human) ]

    Gene ID: 85416, updated on 12-Nov-2024

    Summary

    Official Symbol
    ZIC5provided by HGNC
    Official Full Name
    Zic family member 5provided by HGNC
    Primary source
    HGNC:HGNC:20322
    See related
    Ensembl:ENSG00000139800 MIM:617896; AllianceGenome:HGNC:20322
    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
    Summary
    This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this gene has been observed in various human cancers and may contribute to cancer progression. This gene is closely linked to a related family member on chromosome 13. [provided by RefSeq, Mar 2017]
    Expression
    Restricted expression toward testis (RPKM 2.7) See more
    Orthologs
    NEW
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    Genomic context

    See ZIC5 in Genome Data Viewer
    Location:
    13q32.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (99962964..99971909, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (99173877..99182820, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (100615218..100624163, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene citramalyl-CoA lyase Neighboring gene CLYBL antisense RNA 3 Neighboring gene uncharacterized LOC124900342 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:100461465-100461966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:100461967-100462466 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:100470112-100470282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100485830-100486582 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:100506615-100507814 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:100544348-100544902 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:100544903-100545456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100545457-100546010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100547191-100547692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100547693-100548192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100552816-100553392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100556702-100557202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100566125-100566624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100565623-100566124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100582975-100583475 Neighboring gene Sharpr-MPRA regulatory region 10052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100608499-100609474 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:100609475-100610449 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:100626468-100627010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:100627011-100627551 Neighboring gene OCT4 hESC enhancer GRCh37_chr13:100631077-100631586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5475 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:100635796-100636995 Neighboring gene Zic family member 2 polyalanine repeat instability region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:100642562-100643511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:100649774-100650719 Neighboring gene long intergenic non-protein coding RNA 554 Neighboring gene Zic family member 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    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
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    zinc finger protein ZIC 5
    Names
    Zic family member 5 (odd-paired homolog, Drosophila)
    zinc finger protein of the cerebellum 5

    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_053065.1 RefSeqGene

      Range
      5158..13961
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033132.5NP_149123.3  zinc finger protein ZIC 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the protein.
      Source sequence(s)
      AL355338
      Consensus CDS
      CCDS9494.3
      UniProtKB/Swiss-Prot
      Q5VYB0, Q96T25
      Related
      ENSP00000267294.4, ENST00000267294.5
      Conserved Domains (3) summary
      COG5048
      Location:405551
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:441461
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam18366
      Location:366429
      zf_ZIC; Zic proteins zinc finger domain

    RNA

    1. NR_146224.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon, resulting in a longer transcript compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL355338, CB129979
    2. NR_146225.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon compared to variant 1, resulting in a shorter transcript compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL355338, CB129979

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      99962964..99971909 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      99173877..99182820 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)