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
paired box 4
paired box 4
paired box 4
paired box 4
paired box 4
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
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells pathway
Developmental Biology pathway
Regulation of beta-cell development pathway
KEGG
Maturity onset diabetes of the young pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O43316
TrEMBL J3KPG0
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 AB008913 AC073934 AF043978 BC074761
GenPept AAD02289 AAH74761 BAA24506
RNA Seq Atlas 5078