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

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; 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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1q44

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (244048491..244057476)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (243465054..243473966)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (244211955..244220778)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
Title: General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
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.
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.
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.
CtBP2 interacts with ZBTB18 to promote malignancy of glioblastoma.
Title: CtBP2 interacts with ZBTB18 to promote malignancy of glioblastoma.
our results suggest that altered transcriptional regulation could represent an important pathological mechanism for ZBTB18 missense variants in brain developmental disease.
Title: Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D1S1950E (e-PCR)
- UniSTS:151302

RH104472 (e-PCR)
- UniSTS:31763

RH16021 (e-PCR)
- UniSTS:78403

MARC_9941-9942:996688685:2 (e-PCR)
- UniSTS:270025

SHGC-76612 (e-PCR)
- UniSTS:12489

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
part_of 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

Go to the top of the page Help

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)

Go to the top of the page Help

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

NG_033841.2 RefSeqGene

Range

7794..13987

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AL590483
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

244048491..244057476

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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

NC_060925.1 Alternate T2T-CHM13v2.0

Range

243465054..243473966

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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