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PAX4 (paired box 4)

Identity

Alias (NCBI)KPD
MODY9
HGNC (Hugo) PAX4
HGNC Alias symbMODY9
HGNC Previous namepaired box gene 4
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    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
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]
ImmunoBaseENSG00000106331
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
Consensus coding sequences : CCDS (NCBI)PAX4
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
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_DNA-bd_dom    Paired_dom    Pax-4    PAX_fam    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
SuperfamilyO43316
AlphaFold pdb e-kbO43316   
Human Protein Atlas [tissue]ENSG00000106331-PAX4 [tissue]
HPRD01333
Protein Interaction databases
DIP (DOE-UCLA)O43316
IntAct (EBI)O43316
BioGRIDPAX4
STRING (EMBL)PAX4
ZODIACPAX4
Ontologies - Pathways
QuickGOO43316
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  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  anatomical structure development  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  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  anatomical structure development  sequence-specific double-stranded 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
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
MonarchPAX4
1000_GenomesPAX4 
Exome Variant ServerPAX4
GNOMAD BrowserENSG00000106331
Varsome BrowserPAX4
ACMGPAX4 variants
VarityO43316
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)[gene] [transcripts] [variants]
BioMutaPAX4
DgiDB (Drug Gene Interaction Database)PAX4
DoCM (Curated mutations)PAX4
CIViC (Clinical Interpretations of Variants in Cancer)PAX4
Cancer3DPAX4
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]
GENETestsPAX4
Target ValidationPAX4
Huge Navigator PAX4 [HugePedia]
ClinGenPAX4
Clinical trials, drugs, therapy
MyCancerGenomePAX4
Protein Interactions : CTDPAX4
Pharm GKB GenePA32958
PharosO43316
Clinical trialPAX4
Miscellaneous
canSAR (ICR)PAX4
HarmonizomePAX4
DataMed IndexPAX4
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPAX4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:24:24 CEST 2021

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