PAX4 (paired box 4)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5078
Gene name Gene Name - the full gene name approved by the HGNC.
Paired box 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PAX4
Synonyms (NCBI Gene) Gene synonyms aliases
KPD, MODY9
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 c
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
miRTarBase ID miRNA Experiments Reference
MIRT684769 hsa-miR-6733-3p HITS-CLIP 23313552
MIRT684768 hsa-miR-4302 HITS-CLIP 23313552
MIRT684767 hsa-miR-4783-5p HITS-CLIP 23313552
MIRT684766 hsa-miR-4697-3p HITS-CLIP 23313552
MIRT684765 hsa-miR-223-3p HITS-CLIP 23313552
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
ARX Unknown 23771350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
167413 8618 ENSG00000106331
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O43316
Protein name Paired box protein Pax-4
Protein function Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promote
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00292 PAX 5 → 129 Domain
PF00046 Homeodomain 171 → 227 Homeodomain Domain
Sequence 
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGR
YYRTGVLEPKGIGGSKPRLATPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPS
VSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSETPRGTHPGTGHRNRTIFSPS
QAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACL
KPCWDCGSFLLPVIAPSCVDVAWPCLDASLAHHLIGGAGKATPTHFSHWP
Sequence length 350
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Maturity onset diabetes of the young  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes maturity-onset diabetes of the young, maturity-onset diabetes of the young type 9, Type 2 diabetes, Type 2 diabetes (adjusted for BMI) N/A N/A GenCC, GWAS
Diabetes Mellitus Type 2 diabetes mellitus, diabetes mellitus, noninsulin-dependent N/A N/A ClinVar, GenCC
Duodenal Ulcer Duodenal ulcer N/A N/A GWAS
Mason type diabetes maturity onset diabetes mellitus in young N/A N/A ClinVar
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
beta Thalassemia Associate 19228875
Cerebral Infarction Associate 31168961
Diabetes Gestational Associate 28730907, 29352517
Diabetes Gestational Stimulate 29352517
Diabetes Mellitus Associate 21263211, 36208030
Diabetes Mellitus Type 1 Associate 15509590, 19228875, 19956100
Diabetes Mellitus Type 2 Associate 15509590, 21263211, 22296034, 26290879, 28730907, 31638168, 32741144, 32794382, 34135026, 35592779, 36208030, 36723869, 37234924
Early Onset Glaucoma Associate 34135026
Insulin Resistance Associate 28730907, 29352517
Mason Type Diabetes Associate 21263211