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    ZNF718 zinc finger protein 718 [ Homo sapiens (human) ]

    Gene ID: 255403, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF718provided by HGNC
    Official Full Name
    zinc finger protein 718provided by HGNC
    Primary source
    HGNC:HGNC:26889
    See related
    Ensembl:ENSG00000250312 AllianceGenome:HGNC:26889
    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, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.0), urinary bladder (RPKM 1.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF718 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (124476..202306)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (123916..195646)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (124358..196095)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:53076-54017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:54018-54958 Neighboring gene zinc finger protein 595 Neighboring gene WEE1 pseudogene 1 Neighboring gene uncharacterized LOC124900641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21125 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:145148-146002 Neighboring gene NANOG hESC enhancer GRCh37_chr4:167459-167993 Neighboring gene WEE1 homolog (S. pombe) pseudogene Neighboring gene zinc finger protein 141-like Neighboring gene zinc finger protein 876, pseudogene Neighboring gene endogenous retrovirus group FRD member 1, envelope pseudogene

    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. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. Xu J, et al. Proc Natl Acad Sci U S A, 2010 Feb 2. PMID 20080650, Free PMC Article
    2. 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
    3. ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold. Yang W, et al. Theranostics, 2022. PMID 36168627, Free PMC Article
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    Clone Names

    • FLJ90036

    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 718

    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_001039127.6 → NP_001034216.2  zinc finger protein 718 isoform a

      See identical proteins and their annotated locations for NP_001034216.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC253576, AL833758, BC104027, CA411757, DA386535, N73572
      Consensus CDS
      CCDS75078.1
      UniProtKB/Swiss-Prot
      A0A075B7G5, A8WFQ3, Q3SXZ3, Q3SXZ4, Q3SXZ5
      Related
      ENSP00000480556.1, ENST00000510175.6
      Conserved Domains (3) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:225 → 386
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:313 → 333
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001289930.2 → NP_001276859.1  zinc finger protein 718 isoform b

      See identical proteins and their annotated locations for NP_001276859.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 enocde isoform b.
      Source sequence(s)
      AC253576, AL833758, BC104026, BC104027, CA411757, DA386535, N73572
      Consensus CDS
      CCDS75079.1
      UniProtKB/Swiss-Prot
      Q3SXZ3
      UniProtKB/TrEMBL
      A0A075B7G5, Q658L4
      Related
      ENSP00000476435.1, ENST00000609714.1
      Conserved Domains (5) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:193 → 354
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281 → 301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:195 → 217
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:405 → 430
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001289931.2 → NP_001276860.1  zinc finger protein 718 isoform b

      See identical proteins and their annotated locations for NP_001276860.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 enocde isoform b.
      Source sequence(s)
      AC253576, AL833758, BC104027, CA411757, CN265977, N73572
      Consensus CDS
      CCDS75079.1
      UniProtKB/Swiss-Prot
      Q3SXZ3
      UniProtKB/TrEMBL
      A0A075B7G5, Q658L4
      Conserved Domains (5) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:193 → 354
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281 → 301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:195 → 217
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:405 → 430
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_110527.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC253576, AI367791, BC020836
      Related
      ENST00000642529.1

    2. NR_110528.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AI367791, CN413889, DA386535, DB073415

    3. NR_110529.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC253576, AL833758, BC104027, CA411757, DA386535, N73572

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      124476..202306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007980.3 → XP_016863469.1  zinc finger protein 718 isoform X1

      UniProtKB/TrEMBL
      A0A075B7G5
      Conserved Domains (5) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:193 → 354
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281 → 301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:195 → 217
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:405 → 430
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      123916..195646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153691.4: Suppressed sequence

      Description
      NM_153691.4: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3SXZ3.2 GenPept UniProtKB/Swiss-Prot:Q3SXZ3

    Gene LinkOut

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

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