Format

Send to:

Choose Destination

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

Gene ID: 10472, updated on 7-Jun-2020

Summary

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
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
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

Genomic context

See ZBTB18 in Genome Data Viewer
Location:
1q44
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (244048939..244057476)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (244212241..244220778)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2774 Neighboring gene Sharpr-MPRA regulatory region 14056 Neighboring gene uncharacterized LOC105373258 Neighboring gene uncharacterized LOC112268257 Neighboring gene uncharacterized LOC440742

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal dominant 22
MedGen: C3808184 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
skeletal muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nuclear chromosome TAS
Traceable Author Statement
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
 

General protein information

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)

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_033841.1 RefSeqGene

    Range
    7321..13538
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278196.1NP_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

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AJ001388, AL050055, AL590483, BC078175, CN409673, W68199
    UniProtKB/Swiss-Prot
    Q99592
    Related
    ENSP00000481278.1, ENST00000622512.1
    Conserved Domains (5) summary
    smart00225
    Location:25110
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:294481
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:412432
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:14110
    BTB; BTB/POZ domain
    pfam13465
    Location:425447
    zf-H2C2_2; Zinc-finger double domain
  2. NM_006352.4NP_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

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AJ001388, AL050055, BC078175
    UniProtKB/Swiss-Prot
    Q99592
    Conserved Domains (5) summary
    smart00225
    Location:25110
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:294481
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:412432
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:14110
    BTB; BTB/POZ domain
    pfam13465
    Location:425447
    zf-H2C2_2; Zinc-finger double domain
  3. NM_205768.3NP_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

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AJ001388, AL050055, AL590483, BC036677, BC078175
    Consensus CDS
    CCDS1622.1
    UniProtKB/Swiss-Prot
    Q99592
    Related
    ENSP00000351539.4, ENST00000358704.4
    Conserved Domains (5) summary
    smart00225
    Location:34119
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:303490
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:421441
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:23119
    BTB; BTB/POZ domain
    pfam13465
    Location:434456
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    244048939..244057476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q99592
    Conserved Domains (5) summary
    smart00225
    Location:25110
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:294481
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:412432
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:14110
    BTB; BTB/POZ domain
    pfam13465
    Location:425447
    zf-H2C2_2; Zinc-finger double domain
  2. XM_005273006.2XP_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
    Q99592
    Conserved Domains (5) summary
    smart00225
    Location:25110
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:294481
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:412432
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:14110
    BTB; BTB/POZ domain
    pfam13465
    Location:425447
    zf-H2C2_2; Zinc-finger double domain
Support Center