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    ZNF280B zinc finger protein 280B [ Homo sapiens (human) ]

    Gene ID: 140883, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF280Bprovided by HGNC
    Official Full Name
    zinc finger protein 280Bprovided by HGNC
    Primary source
    HGNC:HGNC:23022
    See related
    Ensembl:ENSG00000275004 AllianceGenome:HGNC:23022
    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
    Also known as
    SUHW2; ZNF279; ZNF632; 5'OY11.1; D87009.C22.3
    Summary
    The protein encoded by this gene is a transcription factor that upregulates expression of MDM2, which negatively regulates p53 expression. This gene is highly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in growth of the cancer cells. Several transcript variants have been found for this gene, but only one of them is protein-coding. [provided by RefSeq, Jan 2015]
    Expression
    Biased expression in testis (RPKM 11.7), brain (RPKM 1.5) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF280B in Genome Data Viewer
    Location:
    22q11.22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (22484421..22509154, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (22907263..22932010, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22838767..22863060, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda locus Neighboring gene immunoglobulin lambda variable 7-35 (pseudogene) Neighboring gene ASH2L pseudogene 4 Neighboring gene uncharacterized LOC124905161 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:22874253-22875452 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22896585-22896782 Neighboring gene IGL region enhancer-blocking element 22-2 Neighboring gene zinc finger protein 280A Neighboring gene PRAME nuclear receptor transcriptional regulator

    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. Zinc Finger 280B regulates sGCα1 and p53 in prostate cancer cells. Gao S, et al. PLoS One, 2013. PMID 24236047, Free PMC Article
    2. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. Tao S, et al. Carcinogenesis, 2012 Mar. PMID 22219177, Free PMC Article
    3. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Robertson NG, et al. Genomics, 1994 Sep 1. PMID 7829101
    4. One-megabase sequence analysis of the human immunoglobulin lambda gene locus. Kawasaki K, et al. Genome Res, 1997 Mar. PMID 9074928
    5. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Connaughton DM, et al. Am J Hum Genet, 2020 Oct 1. PMID 32891193, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF280B upregulates GUCY1A3 expression and downregulates TP53 in prostate cancer cells.
      Title: Zinc Finger 280B regulates sGCα1 and p53 in prostate cancer cells.
    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
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 280B
    Names
    suppressor of hairy wing homolog 2
    zinc finger protein 279
    zinc finger protein 632

    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.

    Genomic

    1. NG_000002.1 

      Range
      462755..487493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_080764.4 → NP_542942.2  zinc finger protein 280B

      See identical proteins and their annotated locations for NP_542942.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the protein-coding variant.
      Source sequence(s)
      AC245291, AK097608, AW021601
      Consensus CDS
      CCDS13799.1
      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8, B3KUN2
      Related
      ENSP00000485750.1, ENST00000626650.3
      Conserved Domains (2) summary
      sd00017
      Location:345 → 366
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13836
      Location:45 → 225
      DUF4195; Domain of unknown function (DUF4195)

    RNA

    1. NR_130642.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' end 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)
      AC245291, AK097608, AW021601, BC040020

    2. NR_130643.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' end and uses an alternate splice junction at the 5' end of the last exon compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
      Source sequence(s)
      AC245291, AW021601, BI523641

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      22484421..22509154 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441144.1 → XP_047297100.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8

    2. XM_047441146.1 → XP_047297102.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8

    3. XM_047441143.1 → XP_047297099.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8
      Related
      ENSP00000481008.1, ENST00000613655.1

    4. XM_047441145.1 → XP_047297101.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8

    5. XM_011529897.3 → XP_011528199.1  zinc finger protein 280B isoform X1

      See identical proteins and their annotated locations for XP_011528199.1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8, B3KUN2
      Conserved Domains (2) summary
      sd00017
      Location:345 → 366
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13836
      Location:45 → 225
      DUF4195; Domain of unknown function (DUF4195)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187629.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      120078..144822 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329445.1 → XP_054185420.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8

    2. XM_054329444.1 → XP_054185419.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8

    3. XM_054329447.1 → XP_054185422.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8

    4. XM_054329446.1 → XP_054185421.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      22907263..22932010 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325109.1 → XP_054181084.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8

    2. XM_054325108.1 → XP_054181083.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8

    3. XM_054325111.1 → XP_054181086.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8

    4. XM_054325110.1 → XP_054181085.1  zinc finger protein 280B isoform X1

      UniProtKB/Swiss-Prot
      Q86YH2
      UniProtKB/TrEMBL
      A0A0D9SEJ8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YH2.3 GenPept UniProtKB/Swiss-Prot:Q86YH2

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