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

Gene ID: 10472, updated on 2-Nov-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
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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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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
not available

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)

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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