ZBTB42 zinc finger and BTB domain containing 42 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZBTB42provided by HGNC
Official Full Name: zinc finger and BTB domain containing 42provided by HGNC
Primary source: HGNC:HGNC:32550
See related: Ensembl:ENSG00000179627 MIM:613915; AllianceGenome:HGNC:32550
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: LCCS6; ZNF925
Summary: The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]
Expression: Ubiquitous expression in prostate (RPKM 4.4), lung (RPKM 3.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.33

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (104800554..104804712)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (99043431..99047591)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (105266891..105271049)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ZBTB42 mutation defines a novel lethal congenital contracture syndrome.
Title: ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
Data show that ZBTB42 protein is expressed in human skeletal muscle and a murine cell line C2C12 myotubes.
Title: Characterization of the ZBTB42 gene in humans and mice.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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
Lethal congenital contracture syndrome 6 MedGen: C4015686 OMIM: 616248 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity 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 plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: zinc finger and BTB domain-containing protein 42

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

NG_042073.1 RefSeqGene

Range

4921..8532

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001137601.3 → NP_001131073.1 zinc finger and BTB domain-containing protein 42

See identical proteins and their annotated locations for NP_001131073.1

Status: REVIEWED

Source sequence(s)

AK125003, AL138144, AL590327, BC157833

Consensus CDS

CCDS45174.1

UniProtKB/Swiss-Prot

B2RXF5, B7ZW21

Related

ENSP00000409107.2, ENST00000342537.8

Conserved Domains (4) summary

COG5048
Location:292 → 405

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:336 → 356

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:349 → 371

zf-H2C2_2; Zinc-finger double domain

cd18956
Location:1 → 129

BTB_POZ_ZBTB42; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 42 (ZBTB42)
NM_001370342.1 → NP_001357271.1 zinc finger and BTB domain-containing protein 42

Status: REVIEWED

Source sequence(s)

AL590327

Consensus CDS

CCDS45174.1

UniProtKB/Swiss-Prot

B2RXF5, B7ZW21

Related

ENSP00000450673.1, ENST00000555360.1

Conserved Domains (4) summary

COG5048
Location:292 → 405

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:336 → 356

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:349 → 371

zf-H2C2_2; Zinc-finger double domain

cd18956
Location:1 → 129

BTB_POZ_ZBTB42; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 42 (ZBTB42)