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

Gene ID: 85460, updated on 14-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
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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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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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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

  • 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 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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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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