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    ZNF518B zinc finger protein 518B [ Homo sapiens (human) ]

    Gene ID: 85460, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF518Bprovided by HGNC
    Official Full Name
    zinc finger protein 518Bprovided by HGNC
    Primary source
    HGNC:HGNC:29365
    See related
    Ensembl:ENSG00000178163 MIM:617734; AllianceGenome:HGNC:29365
    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 transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 4.9), thyroid (RPKM 3.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF518B in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (10439880..10461365, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (10415856..10437348, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (10441504..10459050, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:10412553-10413053 Neighboring gene dynein light chain Tctex-type 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:10458158-10458973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15281 Neighboring gene reactive intermediate imine deaminase A homolog pseudogene Neighboring gene uncharacterized LOC105374482 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:10497080-10498028 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:10498029-10498975 Neighboring gene cytokine dependent hematopoietic cell linker

    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 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. Genetic variations in the CLNK gene and ZNF518B gene are associated with gout in case-control sample sets. Jin TB, et al. Rheumatol Int, 2015 Jul. PMID 25591661
    2. SLC2A9 and ZNF518B polymorphisms correlate with gout-related metabolic indices in Chinese Tibetan populations. Zhang XY, et al. Genet Mol Res, 2015 Aug 19. PMID 26345926
    3. In silico RNA-seq and experimental analyses reveal the differential expression and splicing of EPDR1 and ZNF518B genes in relation to KRAS mutations in colorectal cancer cells. Riffo-Campos ÁL, et al. Oncol Rep, 2016 Dec. PMID 27805251
    4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
    5. Comprehensive Interactome Mapping of the DNA Repair Scaffold SLX4 Using Proximity Labeling and Affinity Purification. Aprosoff CM, et al. J Proteome Res, 2023 Jun 2. PMID 37071664, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF518B exhibits a pattern of isoform abundance dependent on KRAS G13D and G12D mutations.
      Title: In silico RNA-seq and experimental analyses reveal the differential expression and splicing of EPDR1 and ZNF518B genes in relation to KRAS mutations in colorectal cancer cells.
    2. SLC2A9 and ZNF518B polymorphisms correlate with gout-related metabolic indices in Chinese Tibetan populations
      Title: SLC2A9 and ZNF518B polymorphisms correlate with gout-related metabolic indices in Chinese Tibetan populations.
    3. CLNK and ZNF518B SNPs may have potential as diagnostic and prognostic marker for Chinese gout patients.
      Title: Genetic variations in the CLNK gene and ZNF518B gene are associated with gout in case-control sample sets.
    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

    Clone Names

    • KIAA1729

    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 transcription 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 chromatin organization 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
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 518B

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001375816.1 → NP_001362745.1  zinc finger protein 518B

      Status: VALIDATED

      Source sequence(s)
      AC110768
      Consensus CDS
      CCDS33960.1
      UniProtKB/Swiss-Prot
      Q96LN8, Q9C0D4
      Conserved Domains (2) summary
      sd00017
      Location:137 → 157
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13909
      Location:164 → 186
      zf-H2C2_5; C2H2-type zinc-finger domain

    2. NM_001375817.1 → NP_001362746.1  zinc finger protein 518B

      Status: VALIDATED

      Source sequence(s)
      AC110768
      Consensus CDS
      CCDS33960.1
      UniProtKB/Swiss-Prot
      Q96LN8, Q9C0D4
      Conserved Domains (2) summary
      sd00017
      Location:137 → 157
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13909
      Location:164 → 186
      zf-H2C2_5; C2H2-type zinc-finger domain

    3. NM_053042.3 → NP_444270.2  zinc finger protein 518B

      See identical proteins and their annotated locations for NP_444270.2

      Status: VALIDATED

      Source sequence(s)
      AC110768, AL833306, BC040874, CD656908
      Consensus CDS
      CCDS33960.1
      UniProtKB/Swiss-Prot
      Q96LN8, Q9C0D4
      Related
      ENSP00000317614.3, ENST00000326756.4
      Conserved Domains (2) summary
      sd00017
      Location:137 → 157
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13909
      Location:164 → 186
      zf-H2C2_5; C2H2-type zinc-finger domain

    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
      10439880..10461365 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416333.1 → XP_047272289.1  zinc finger protein 518B isoform X1

      UniProtKB/Swiss-Prot
      Q96LN8, Q9C0D4

    2. XM_024454264.2 → XP_024310032.1  zinc finger protein 518B isoform X1

      UniProtKB/Swiss-Prot
      Q96LN8, Q9C0D4
      Conserved Domains (2) summary
      sd00017
      Location:137 → 157
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13909
      Location:164 → 186
      zf-H2C2_5; C2H2-type zinc-finger domain

    3. XM_017008786.2 → XP_016864275.1  zinc finger protein 518B isoform X1

      UniProtKB/Swiss-Prot
      Q96LN8, Q9C0D4
      Conserved Domains (2) summary
      sd00017
      Location:137 → 157
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13909
      Location:164 → 186
      zf-H2C2_5; C2H2-type zinc-finger domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      10415856..10437348 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351132.1 → XP_054207107.1  zinc finger protein 518B isoform X1

    2. XM_054351131.1 → XP_054207106.1  zinc finger protein 518B isoform X1

    3. XM_054351133.1 → XP_054207108.1  zinc finger protein 518B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0D4.2 GenPept UniProtKB/Swiss-Prot:Q9C0D4

    Gene LinkOut

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

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