Version 5.4
Homo sapiens Gene: PAX4
Summary
InnateDB Gene IDBG-39446.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAX4
Gene Name paired box 4
Synonyms KPD; MODY9
Species Homo sapiens
Ensembl Gene ENSG00000106331
Encoded Proteins
IDBP-39448
paired box 4
IDBP-39450
paired box 4
IDBP-39452
paired box 4
IDBP-813017
paired box 4
IDBP-595566
paired box 4
IDBP-813020
paired box 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:127610292-127615928
Strand Reverse strand
Band q32.1
Transcripts
ENST00000378740 ENSP00000368014
ENST00000341640 ENSP00000339906
ENST00000338516 ENSP00000344297
ENST00000483494 ENSP00000473846
ENST00000463946 ENSP00000451923
ENST00000477423
ENST00000611453 ENSP00000477877
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0001206 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organismal development
GO:0007623 circadian rhythm
GO:0009887 organ morphogenesis
GO:0030154 cell differentiation
GO:0031018 endocrine pancreas development
GO:0042493 response to drug
GO:0043066 negative regulation of apoptotic process
GO:0045595 regulation of cell differentiation
GO:0045597 positive regulation of cell differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0051591 response to cAMP
GO:0060041 retina development in camera-type eye
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029706
View Gene Order
ENSBTAG00000000410
Not yet available
Pathways
NETPATH
REACTOME
REACT_13650
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells pathway
REACT_111045
Developmental Biology pathway
REACT_13698
Regulation of beta-cell development pathway
KEGG
hsa04950
Maturity onset diabetes of the young pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL G3V4Q1
UniProt Splice Variant
Entrez Gene 5078
UniGene Hs.129706
RefSeq NM_006193 XM_005250397
HUGO HGNC:8618
OMIM 167413
CCDS CCDS5797
HPRD 01333
IMGT
EMBL AC073934
GenPept
RNA Seq Atlas 5078

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca