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PAX4 (paired box 4)

Identity

Alias_namespaired box gene 4
Alias_symbol (synonym)MODY9
Other aliasKPD
HGNC (Hugo) PAX4
LocusID (NCBI) 5078
Atlas_Id 41643
Location 7q32.1  [Link to chromosome band 7q32]
Location_base_pair Starts at 127610292 and ends at 127615726 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PAX4   8618
Cards
Entrez_Gene (NCBI)PAX4  5078  paired box 4
AliasesKPD; MODY9
GeneCards (Weizmann)PAX4
Ensembl hg19 (Hinxton)ENSG00000106331 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106331 [Gene_View]  chr7:127610292-127615726 [Contig_View]  PAX4 [Vega]
ICGC DataPortalENSG00000106331
TCGA cBioPortalPAX4
AceView (NCBI)PAX4
Genatlas (Paris)PAX4
WikiGenes5078
SOURCE (Princeton)PAX4
Genetics Home Reference (NIH)PAX4
Genomic and cartography
GoldenPath hg38 (UCSC)PAX4  -     chr7:127610292-127615726 -  7q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAX4  -     7q32.1   [Description]    (hg19-Feb_2009)
EnsemblPAX4 - 7q32.1 [CytoView hg19]  PAX4 - 7q32.1 [CytoView hg38]
Mapping of homologs : NCBIPAX4 [Mapview hg19]  PAX4 [Mapview hg38]
OMIM125853   167413   612225   612227   
Gene and transcription
Genbank (Entrez)AB008913 AF043978 BC074761 BC107149 BC107150
RefSeq transcript (Entrez)NM_006193
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAX4
Cluster EST : UnigeneHs.129706 [ NCBI ]
CGAP (NCI)Hs.129706
Alternative Splicing GalleryENSG00000106331
Gene ExpressionPAX4 [ NCBI-GEO ]   PAX4 [ EBI - ARRAY_EXPRESS ]   PAX4 [ SEEK ]   PAX4 [ MEM ]
Gene Expression Viewer (FireBrowse)PAX4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5078
GTEX Portal (Tissue expression)PAX4
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43316   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43316  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43316
Splice isoforms : SwissVarO43316
PhosPhoSitePlusO43316
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    PAIRED_1 (PS00034)    PAIRED_2 (PS51057)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    Paired_dom    Pax-4    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    PAX (PF00292)   
Domain families : Pfam (NCBI)pfam00046    pfam00292   
Domain families : Smart (EMBL)HOX (SM00389)  PAX (SM00351)  
Conserved Domain (NCBI)PAX4
DMDM Disease mutations5078
Blocks (Seattle)PAX4
SuperfamilyO43316
Human Protein AtlasENSG00000106331
Peptide AtlasO43316
HPRD01333
IPIIPI00011955   IPI00218426   IPI00844339   IPI00654845   
Protein Interaction databases
DIP (DOE-UCLA)O43316
IntAct (EBI)O43316
FunCoupENSG00000106331
BioGRIDPAX4
STRING (EMBL)PAX4
ZODIACPAX4
Ontologies - Pathways
QuickGOO43316
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding  DNA binding  nucleoplasm  transcription, DNA-templated  circadian rhythm  animal organ morphogenesis  cell differentiation  endocrine pancreas development  response to drug  negative regulation of apoptotic process  positive regulation of cell differentiation  response to cAMP  retina development in camera-type eye  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding  DNA binding  nucleoplasm  transcription, DNA-templated  circadian rhythm  animal organ morphogenesis  cell differentiation  endocrine pancreas development  response to drug  negative regulation of apoptotic process  positive regulation of cell differentiation  response to cAMP  retina development in camera-type eye  
Pathways : KEGGMaturity onset diabetes of the young   
NDEx NetworkPAX4
Atlas of Cancer Signalling NetworkPAX4
Wikipedia pathwaysPAX4
Orthology - Evolution
OrthoDB5078
GeneTree (enSembl)ENSG00000106331
Phylogenetic Trees/Animal Genes : TreeFamPAX4
HOVERGENO43316
HOGENOMO43316
Homologs : HomoloGenePAX4
Homology/Alignments : Family Browser (UCSC)PAX4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAX4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAX4
dbVarPAX4
ClinVarPAX4
1000_GenomesPAX4 
Exome Variant ServerPAX4
ExAC (Exome Aggregation Consortium)PAX4 (select the gene name)
Genetic variants : HAPMAP5078
Genomic Variants (DGV)PAX4 [DGVbeta]
DECIPHERPAX4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAX4 
Mutations
ICGC Data PortalPAX4 
TCGA Data PortalPAX4 
Broad Tumor PortalPAX4
OASIS PortalPAX4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAX4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAX4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PAX4
DgiDB (Drug Gene Interaction Database)PAX4
DoCM (Curated mutations)PAX4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAX4 (select a term)
intoGenPAX4
Cancer3DPAX4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125853    167413    612225    612227   
Orphanet8028   
MedgenPAX4
Genetic Testing Registry PAX4
NextProtO43316 [Medical]
TSGene5078
GENETestsPAX4
Target ValidationPAX4
Huge Navigator PAX4 [HugePedia]
snp3D : Map Gene to Disease5078
BioCentury BCIQPAX4
ClinGenPAX4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5078
Chemical/Pharm GKB GenePA32958
Clinical trialPAX4
Miscellaneous
canSAR (ICR)PAX4 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAX4
EVEXPAX4
GoPubMedPAX4
iHOPPAX4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:10:07 CEST 2017

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