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

Gene ID: 10472, updated on 23-Sep-2022

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; 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
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

See ZBTB18 in Genome Data Viewer
Location:
1q44
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244048491..244057476)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (243465140..243473966)
105.20220307 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 Sharpr-MPRA regulatory region 3339 Neighboring gene uncharacterized LOC440742 Neighboring gene RNA, 7SL, cytoplasmic 148, pseudogene

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
Intellectual disability, 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

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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

NEW Try the new Transcript table

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_001278196.2NP_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)
    AL590483
    UniProtKB/Swiss-Prot
    Q99592, Q9UD99
    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, Q9UD99
    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 Annotation Release 110 details...Open this link in a new tab

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_047430955.1XP_047286911.1  zinc finger and BTB domain-containing protein 18 isoform X1

    UniProtKB/Swiss-Prot
    Q9UD99
  2. XM_017000060.2XP_016855549.1  zinc finger and BTB domain-containing protein 18 isoform X1

    UniProtKB/Swiss-Prot
    Q99592, Q9UD99
    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. XM_005273006.3XP_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, Q9UD99
    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
  4. XM_047430908.1XP_047286864.1  zinc finger and BTB domain-containing protein 18 isoform X1

    UniProtKB/Swiss-Prot
    Q9UD99
  5. XM_047430924.1XP_047286880.1  zinc finger and BTB domain-containing protein 18 isoform X1

    UniProtKB/Swiss-Prot
    Q9UD99
    Related
    ENSP00000512758.1, ENST00000696618.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    243465140..243473966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)