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    ZBTB18 zinc finger and BTB domain containing 18 [ Homo sapiens (human) ]

    Gene ID: 10472, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZBTB18provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 18provided by HGNC
    Primary source
    HGNC:HGNC:13030
    See related
    Ensembl:ENSG00000179456 MIM:608433; AllianceGenome:HGNC:13030
    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
    RP58; MRD22; TAZ-1; ZNF238; C2H2-171; DEL1Q42Q44; DEL1Q43Q44; C1DELq42q44; C1DELq43q44
    Summary
    This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in brain (RPKM 20.3), testis (RPKM 12.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB18 in Genome Data Viewer
    Location:
    1q44
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244048491..244057476)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (243465054..243473966)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (244211955..244220778)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2774 Neighboring gene uncharacterized LOC105373258 Neighboring gene uncharacterized LOC124904570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2012 Neighboring gene NANOG hESC enhancer GRCh37_chr1:244215360-244215861 Neighboring gene Sharpr-MPRA regulatory region 3339 Neighboring gene uncharacterized LOC440742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:244240280-244240780 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:244250689-244250887 Neighboring gene RNA, 7SL, cytoplasmic 148, 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 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. A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability. Li N, et al. Neurogenetics, 2023 Oct. PMID 37525067
    2. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. de Munnik SA, et al. Eur J Hum Genet, 2014 Jun. PMID 24193349, Free PMC Article
    3. Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease. Heng JI, et al. J Neurochem, 2022 May. PMID 35083747, Free PMC Article
    4. Identification of ZBTB18 as a novel colorectal tumor suppressor gene through genome-wide promoter hypermethylation analysis. Bazzocco S, et al. Clin Epigenetics, 2021 Apr 23. PMID 33892786, Free PMC Article
    5. Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease. Blake S, et al. ACS Chem Neurosci, 2021 Mar 17. PMID 33621064

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
      Title: Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
    2. A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
      Title: A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
    3. ZBTB18 inhibits SREBP-dependent lipid synthesis by halting CTBPs and LSD1 activity in glioblastoma.
      Title: ZBTB18 inhibits SREBP-dependent lipid synthesis by halting CTBPs and LSD1 activity in glioblastoma.
    4. Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
      Title: Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
    5. Identification of ZBTB18 as a novel colorectal tumor suppressor gene through genome-wide promoter hypermethylation analysis.
      Title: Identification of ZBTB18 as a novel colorectal tumor suppressor gene through genome-wide promoter hypermethylation analysis.
    6. General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
      Title: General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
    7. The Zinc Finger Protein Zbtb18 Represses Expression of Class I Phosphatidylinositol 3-Kinase Subunits and Inhibits Plasma Cell Differentiation.
      Title: The Zinc Finger Protein Zbtb18 Represses Expression of Class I Phosphatidylinositol 3-Kinase Subunits and Inhibits Plasma Cell Differentiation.
    8. Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease.
      Title: Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease.
    9. Up-regulated miR-155 is associated with poor prognosis in childhood acute lymphoblastic leukemia and promotes cell proliferation targeting ZNF238.
      Title: Up-regulated miR-155 is associated with poor prognosis in childhood acute lymphoblastic leukemia and promotes cell proliferation targeting ZNF238.
    10. CtBP2 interacts with ZBTB18 to promote malignancy of glioblastoma.
      Title: CtBP2 interacts with ZBTB18 to promote malignancy of glioblastoma.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 22
    MedGen: CN029689 OMIM: 612337 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-04-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-04-24)

    ClinGen Genome Curation PagePubMed

    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 TAS
    Traceable Author Statement
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    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 DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in heterochromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 18
    Names
    58 kDa repressor protein
    transcriptional repressor RP58
    translin-associated zinc finger protein 1
    zinc finger protein 238
    zinc finger protein C2H2-171

    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_033841.2 RefSeqGene

      Range
      7794..13987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278196.2 → NP_001265125.1  zinc finger and BTB domain-containing protein 18 isoform 2

      See identical proteins and their annotated locations for NP_001265125.1

      Status: REVIEWED

      Source sequence(s)
      AL590483
      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99
      UniProtKB/TrEMBL
      B4DF20
      Related
      ENSP00000481278.1, ENST00000622512.1
      Conserved Domains (5) summary
      smart00225
      Location:25 → 110
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:294 → 481
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:14 → 110
      BTB; BTB/POZ domain
      pfam13465
      Location:425 → 447
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001421566.1 → NP_001408495.1  zinc finger and BTB domain-containing protein 18 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL590483

    3. NM_006352.5 → NP_006343.2  zinc finger and BTB domain-containing protein 18 isoform 2

      See identical proteins and their annotated locations for NP_006343.2

      Status: REVIEWED

      Source sequence(s)
      AL590483
      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99
      UniProtKB/TrEMBL
      B4DF20
      Conserved Domains (5) summary
      smart00225
      Location:25 → 110
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:294 → 481
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:14 → 110
      BTB; BTB/POZ domain
      pfam13465
      Location:425 → 447
      zf-H2C2_2; Zinc-finger double domain

    4. NM_205768.3 → NP_991331.1  zinc finger and BTB domain-containing protein 18 isoform 1

      See identical proteins and their annotated locations for NP_991331.1

      Status: REVIEWED

      Source sequence(s)
      AJ001388, AL050055, AL590483, BC036677, BC078175
      Consensus CDS
      CCDS1622.1
      UniProtKB/TrEMBL
      B4DF20
      Related
      ENSP00000351539.4, ENST00000358704.4
      Conserved Domains (5) summary
      smart00225
      Location:34 → 119
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:303 → 490
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:421 → 441
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:23 → 119
      BTB; BTB/POZ domain
      pfam13465
      Location:434 → 456
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      244048491..244057476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430955.1 → XP_047286911.1  zinc finger and BTB domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99

    2. XM_017000060.2 → XP_016855549.1  zinc finger and BTB domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99
      UniProtKB/TrEMBL
      B4DF20
      Conserved Domains (5) summary
      smart00225
      Location:25 → 110
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:294 → 481
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:14 → 110
      BTB; BTB/POZ domain
      pfam13465
      Location:425 → 447
      zf-H2C2_2; Zinc-finger double domain

    3. XM_005273006.3 → XP_005273063.1  zinc finger and BTB domain-containing protein 18 isoform X1

      See identical proteins and their annotated locations for XP_005273063.1

      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99
      UniProtKB/TrEMBL
      B4DF20
      Conserved Domains (5) summary
      smart00225
      Location:25 → 110
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:294 → 481
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:14 → 110
      BTB; BTB/POZ domain
      pfam13465
      Location:425 → 447
      zf-H2C2_2; Zinc-finger double domain

    4. XM_047430908.1 → XP_047286864.1  zinc finger and BTB domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99

    5. XM_047430924.1 → XP_047286880.1  zinc finger and BTB domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99
      Related
      ENSP00000512758.1, ENST00000696618.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      243465054..243473966
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333853.1 → XP_054189828.1  zinc finger and BTB domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99

    2. XM_054333852.1 → XP_054189827.1  zinc finger and BTB domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99

    3. XM_054333850.1 → XP_054189825.1  zinc finger and BTB domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99

    4. XM_054333851.1 → XP_054189826.1  zinc finger and BTB domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      A8K5U3, Q13397, Q5VU40, Q8N463, Q99592, Q9UD99
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99592.1 GenPept UniProtKB/Swiss-Prot:Q99592

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

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