Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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 127616027 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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]  ENSG00000106331 [Sequence]  chr7:127610292-127616027 [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  -     chr7:127610292-127616027 -  7q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAX4  -     7q32.1   [Description]    (hg19-Feb_2009)
GoldenPathPAX4 - 7q32.1 [CytoView hg19]  PAX4 - 7q32.1 [CytoView hg38]
Genome Data Viewer NCBIPAX4 [Mapview hg19]  
OMIM125853   167413   612225   612227   
Gene and transcription
Genbank (Entrez)AB008913 AF043978 BC074761 BC107149 BC107150
RefSeq transcript (Entrez)NM_001366110 NM_001366111 NM_006193
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAX4
Alternative Splicing GalleryENSG00000106331
Gene ExpressionPAX4 [ NCBI-GEO ]   PAX4 [ EBI - ARRAY_EXPRESS ]   PAX4 [ SEEK ]   PAX4 [ MEM ]
Gene Expression Viewer (FireBrowse)PAX4 [ Firebrowse - Broad ]
GenevisibleExpression of PAX4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5078
GTEX Portal (Tissue expression)PAX4
Human Protein AtlasENSG00000106331-PAX4 [pathology]   [cell]   [tissue]
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_sf    Homeobox_CS    Homeobox_dom    Paired_dom    Pax-4    WH-like_DNA-bd_sf   
Domain families : Pfam (Sanger)Homeodomain (PF00046)    PAX (PF00292)   
Domain families : Pfam (NCBI)pfam00046    pfam00292   
Domain families : Smart (EMBL)HOX (SM00389)  PAX (SM00351)  
Conserved Domain (NCBI)PAX4
DMDM Disease mutations5078
SuperfamilyO43316
Human Protein Atlas [tissue]ENSG00000106331-PAX4 [tissue]
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 : AmiGOnuclear chromatin  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA binding  nucleoplasm  regulation of transcription by RNA polymerase II  animal organ morphogenesis  cell differentiation  endocrine pancreas development  sequence-specific DNA binding  
Ontology : EGO-EBInuclear chromatin  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA binding  nucleoplasm  regulation of transcription by RNA polymerase II  animal organ morphogenesis  cell differentiation  endocrine pancreas development  sequence-specific DNA binding  
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
HOGENOMO43316
Homologs : HomoloGenePAX4
Homology/Alignments : Family Browser (UCSC)PAX4
Gene fusions - Rearrangements
Fusion : QuiverPAX4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAX4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAX4
dbVarPAX4
ClinVarPAX4
1000_GenomesPAX4 
Exome Variant ServerPAX4
GNOMAD BrowserENSG00000106331
Varsome BrowserPAX4
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]  
Somatic Mutations in Cancer : COSMIC3DPAX4
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
BioMutaselect 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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125853    167413    612225    612227   
Orphanet8028   
DisGeNETPAX4
MedgenPAX4
Genetic Testing Registry PAX4
NextProtO43316 [Medical]
TSGene5078
GENETestsPAX4
Open Targets GeneticsENSG00000106331  [validation]
snp3D : Map Gene to Disease5078
BioCentury BCIQPAX4
ClinGenPAX4
Clinical trials, drugs, therapy
Protein Interactions : CTD5078
Pharm GKB GenePA32958
Clinical trialPAX4
Miscellaneous
canSAR (ICR)PAX4 (select the gene name)
HarmonizomePAX4
DataMed IndexPAX4
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAX4
EVEXPAX4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 11 20:04:07 CEST 2020

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.