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    ZBTB26 zinc finger and BTB domain containing 26 [ Homo sapiens (human) ]

    Gene ID: 57684, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZBTB26provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 26provided by HGNC
    Primary source
    HGNC:HGNC:23383
    See related
    Ensembl:ENSG00000171448 MIM:620164; AllianceGenome:HGNC:23383
    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
    Also known as
    ZNF481; bioref
    Summary
    Enables identical protein binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 7.0), ovary (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB26 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (122915566..122931512, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (135112805..135128757, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (125677845..125693791, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ring finger and CCCH-type domains 2 Neighboring gene small nucleolar RNA, C/D box 90 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125677135-125677892 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125683768-125684268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125684269-125684769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20244 Neighboring gene zinc finger and BTB domain containing 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28931 Neighboring gene uncharacterized LOC105379839 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125703098-125703822 Neighboring gene RAB GTPase activating protein 1 Neighboring gene RNY1 pseudogene 15

    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. Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism. Vick P, et al. Genes (Basel), 2021 Nov 24. PMID 34946811, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877
    3. 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
    4. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article
    5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
      Title: Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
    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

    Potential readthrough

    Included gene: ZBTB6

    Homology

    Clone Names

    • KIAA1572

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription repressor 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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of immune system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 26
    Names
    zinc finger protein 481
    zinc finger protein 483
    zinc finger protein Bioref

    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_001304363.2 → NP_001291292.1  zinc finger and BTB domain-containing protein 26

      See identical proteins and their annotated locations for NP_001291292.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC007066, AK058083, BC018748, BM682342, DA212731
      Consensus CDS
      CCDS6847.1
      UniProtKB/Swiss-Prot
      B3KQ53, Q8WTR1, Q9HCK0
      Conserved Domains (5) summary
      COG5236
      Location:269 → 381
      COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      sd00017
      Location:300 → 320
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18214
      Location:8 → 129
      BTB_POZ_ZBTB26_Bioref; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 26 (ZBTB26)
      pfam00096
      Location:298 → 320
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:315 → 337
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001304364.2 → NP_001291293.1  zinc finger and BTB domain-containing protein 26

      See identical proteins and their annotated locations for NP_001291293.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC007066, AK057445, AK058083, BM682342
      Consensus CDS
      CCDS6847.1
      UniProtKB/Swiss-Prot
      B3KQ53, Q8WTR1, Q9HCK0
      Related
      ENSP00000362758.1, ENST00000373654.1
      Conserved Domains (5) summary
      COG5236
      Location:269 → 381
      COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      sd00017
      Location:300 → 320
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18214
      Location:8 → 129
      BTB_POZ_ZBTB26_Bioref; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 26 (ZBTB26)
      pfam00096
      Location:298 → 320
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:315 → 337
      zf-H2C2_2; Zinc-finger double domain

    3. NM_020924.4 → NP_065975.1  zinc finger and BTB domain-containing protein 26

      See identical proteins and their annotated locations for NP_065975.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC007066, AK058083, BC018748, BM682342, HY066289
      Consensus CDS
      CCDS6847.1
      UniProtKB/Swiss-Prot
      B3KQ53, Q8WTR1, Q9HCK0
      Related
      ENSP00000362760.3, ENST00000373656.4
      Conserved Domains (5) summary
      COG5236
      Location:269 → 381
      COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      sd00017
      Location:300 → 320
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18214
      Location:8 → 129
      BTB_POZ_ZBTB26_Bioref; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 26 (ZBTB26)
      pfam00096
      Location:298 → 320
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:315 → 337
      zf-H2C2_2; Zinc-finger double 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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      122915566..122931512 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      135112805..135128757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCK0.2 GenPept UniProtKB/Swiss-Prot:Q9HCK0

    Gene LinkOut

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

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