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Pax4 paired box 4 [ Mus musculus (house mouse) ]

Gene ID: 18506, updated on 27-May-2024

Summary

Official Symbol
Pax4provided by MGI
Official Full Name
paired box 4provided by MGI
Primary source
MGI:MGI:97488
See related
Ensembl:ENSMUSG00000029706 AllianceGenome:MGI:97488
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Pax-4
Summary
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II and positive regulation of cell differentiation. Predicted to be located in nucleus. Predicted to be part of transcription regulator complex. Is expressed in several structures, including central nervous system; dorsal root ganglion; foregut-midgut junction; and urinary system. Human ortholog(s) of this gene implicated in diabetic ketoacidosis; maturity-onset diabetes of the young type 9; type 1 diabetes mellitus; and type 2 diabetes mellitus. Orthologous to human PAX4 (paired box 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See Pax4 in Genome Data Viewer
Location:
6 A3.3; 6 11.99 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (28442333..28449339, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (28442334..28449340, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene Pax4 5' regulatory region Neighboring gene golgi coiled coil 1 Neighboring gene fascin actin-bundling protein 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:28430124-28430311 Neighboring gene ADP-ribosylation factor 5 Neighboring gene staphylococcal nuclease and tudor domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_15418 Neighboring gene leucine rich repeat containing 4 Neighboring gene STARR-seq mESC enhancer starr_15424 Neighboring gene predicted gene, 53277

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5) 
  • Targeted (5)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within 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 IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of epithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within regulation of cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of type B pancreatic cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of transcription regulator complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
paired box protein Pax-4
Names
paired box gene 4

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.

mRNA and Protein(s)

  1. NM_001159925.1NP_001153397.1  paired box protein Pax-4 isoform 2

    See identical proteins and their annotated locations for NP_001153397.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AF031150, AF145233, BC145168
    Consensus CDS
    CCDS51732.1
    UniProtKB/TrEMBL
    G3UZE8
    Related
    ENSMUSP00000131301.2, ENSMUST00000164519.9
    Conserved Domains (2) summary
    smart00351
    Location:5129
    PAX; Paired Box domain
    pfam00046
    Location:174226
    Homeobox; Homeobox domain
  2. NM_001159926.1NP_001153398.1  paired box protein Pax-4 isoform 3

    See identical proteins and their annotated locations for NP_001153398.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses alternate in-frame splice sites in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AF031150, AF145233, BC145169
    Consensus CDS
    CCDS51731.1
    UniProtKB/TrEMBL
    B7ZNC8, G3UZE8
    Related
    ENSMUSP00000126000.2, ENSMUST00000171089.9
    Conserved Domains (2) summary
    smart00351
    Location:5129
    PAX; Paired Box domain
    pfam00046
    Location:174226
    Homeobox; Homeobox domain
  3. NM_011038.2NP_035168.1  paired box protein Pax-4 isoform 1

    See identical proteins and their annotated locations for NP_035168.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF031150, AF145233
    Consensus CDS
    CCDS39447.1
    UniProtKB/Swiss-Prot
    B7ZNC7, P32115, P97341, Q9QUR1, Q9R091
    UniProtKB/TrEMBL
    A2RRY5, G3UZE8
    Related
    ENSMUSP00000031718.8, ENSMUST00000031718.14
    Conserved Domains (2) summary
    smart00351
    Location:5129
    PAX; Paired Box domain
    pfam00046
    Location:174226
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    28442333..28449339 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)