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

Gene ID: 100128927, updated on 26-Oct-2022

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
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Genomic context

See ZBTB42 in Genome Data Viewer
Location:
14q32.33
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104800554..104804712)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99043431..99047591)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105266891..105271049)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723342 Neighboring gene Sharpr-MPRA regulatory region 15301 Neighboring gene AKT serine/threonine kinase 1 Neighboring gene Sharpr-MPRA regulatory region 3976 Neighboring gene long intergenic non-protein coding RNA 638

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
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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43013, MGC189728

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
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 
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
PubMed 
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
PubMed 
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

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

  1. NG_042073.1 RefSeqGene

    Range
    4921..8532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001137601.3NP_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:292405
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:336356
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:349371
    zf-H2C2_2; Zinc-finger double domain
    cd18956
    Location:1129
    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)
  2. NM_001370342.1NP_001357271.1  zinc finger and BTB domain-containing protein 42

    Status: REVIEWED

    Source sequence(s)
    AL590327
    Consensus CDS
    CCDS45174.1
    UniProtKB/Swiss-Prot
    B7ZW21
    Related
    ENSP00000450673.1, ENST00000555360.1
    Conserved Domains (4) summary
    COG5048
    Location:292405
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:336356
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:349371
    zf-H2C2_2; Zinc-finger double domain
    cd18956
    Location:1129
    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)

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    104800554..104804712
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    99043431..99047591
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)