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    ZNF678 zinc finger protein 678 [ Homo sapiens (human) ]

    Gene ID: 339500, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF678provided by HGNC
    Official Full Name
    zinc finger protein 678provided by HGNC
    Primary source
    HGNC:HGNC:28652
    See related
    Ensembl:ENSG00000181450 AllianceGenome:HGNC:28652
    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 factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.9), endometrium (RPKM 1.5) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF678 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (227563556..227679669)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (226752490..226868604)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227751257..227867370)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373122 Neighboring gene tubulin beta 8 class VIII pseudogene 9 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:227719584-227720783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227735098-227735598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2679 Neighboring gene RNA, 5S ribosomal pseudogene 77 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227767411-227767659 Neighboring gene mitochondrial ribosomal protein L57 pseudogene 2 Neighboring gene MPRA-validated peak744 silencer Neighboring gene family with sequence similarity 133 member A pseudogene Neighboring gene MPRA-validated peak745 silencer Neighboring gene MPRA-validated peak746 silencer Neighboring gene vomeronasal 1 receptor 15 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227880161-227880375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:227898535-227899471 Neighboring gene zinc finger protein 847, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227915603-227916208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1899 Neighboring gene synaptosome associated protein 47 Neighboring gene jumonji domain containing 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. Lee JJ, et al. Ann Hum Genet, 2010 Nov. PMID 20846217, Free PMC Article
    2. Genome-wide association analysis identifies 20 loci that influence adult height. Weedon MN, et al. Nat Genet, 2008 May. PMID 18391952, Free PMC Article
    3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. Zhao J, et al. BMC Med Genet, 2010 Jun 14. PMID 20546612, Free PMC Article
    4. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    5. A High-Density Map for Navigating the Human Polycomb Complexome. Hauri S, et al. Cell Rep, 2016 Oct 4. PMID 27705803

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies 20 loci that influence adult height.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ18355, FLJ22822, MGC15634, MGC42493

    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
    		  
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 678
    Names
    hypothetical protein MGC42493

    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_001367909.1 → NP_001354838.1  zinc finger protein 678 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL451054, AL592310
      Consensus CDS
      CCDS1560.1
      UniProtKB/Swiss-Prot
      Q5SXM1, Q8IVQ9
      Related
      ENSP00000344828.4, ENST00000343776.10

    2. NM_001367910.1 → NP_001354839.1  zinc finger protein 678 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL451054, AL592310
      Consensus CDS
      CCDS1560.1
      UniProtKB/Swiss-Prot
      Q5SXM1, Q8IVQ9

    3. NM_001367911.1 → NP_001354840.1  zinc finger protein 678 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL451054, AL592310

    4. NM_178549.4 → NP_848644.2  zinc finger protein 678 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL451054, AL592310
      Conserved Domains (5) summary
      smart00349
      Location:44 → 101
      KRAB; krueppel associated box
      COG5048
      Location:138 → 536
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:378 → 398
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:44 → 83
      KRAB; KRAB box
      pfam13465
      Location:334 → 359
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_102302.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL451054, AL592310

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      227563556..227679669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      226752490..226868604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032755.1: Suppressed sequence

      Description
      NM_032755.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SXM1.1 GenPept UniProtKB/Swiss-Prot:Q5SXM1

    Gene LinkOut

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

    Chemical Information
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