PAX4 (paired box 4)

Gene

• Entrez ID: 5078
• Gene name: Paired box 4
• Gene symbol: PAX4
• Synonyms (NCBI Gene): KPD, MODY9
• Chromosome: 7
• Chromosome location: 7q32.1
• 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 c

miRNA

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
MIRT684764	hsa-miR-933	HITS-CLIP	23313552
MIRT684763	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT684762	hsa-miR-574-5p	HITS-CLIP	23313552
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
MIRT684764	hsa-miR-933	HITS-CLIP	23313552
MIRT684763	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT684762	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT1215321	hsa-miR-1286	CLIP-seq
MIRT1215322	hsa-miR-4419a	CLIP-seq
MIRT1215323	hsa-miR-4459	CLIP-seq
MIRT1215324	hsa-miR-4510	CLIP-seq
MIRT1215325	hsa-miR-4779	CLIP-seq
MIRT1552129	hsa-miR-4476	CLIP-seq
MIRT1552130	hsa-miR-4533	CLIP-seq
MIRT2061965	hsa-miR-1293	CLIP-seq
MIRT2061966	hsa-miR-4436b-3p	CLIP-seq
MIRT2061967	hsa-miR-4455	CLIP-seq
MIRT2061968	hsa-miR-4483	CLIP-seq
MIRT2061969	hsa-miR-4761-3p	CLIP-seq
MIRT2061970	hsa-miR-4795-5p	CLIP-seq
MIRT2061971	hsa-miR-609	CLIP-seq
MIRT2290476	hsa-miR-153	CLIP-seq
MIRT2392149	hsa-miR-3664-5p	CLIP-seq
MIRT2392150	hsa-miR-425	CLIP-seq
MIRT2392151	hsa-miR-4639-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ARX	Unknown	23771350

Gene ontology (GO)

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
GO:0003309	Process	Type B pancreatic cell differentiation	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9480859
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007420	Process	Brain development	IBA
GO:0007423	Process	Sensory organ development	IBA
GO:0009887	Process	Animal organ morphogenesis	TAS	9480859
GO:0030154	Process	Cell differentiation	IEA
GO:0030900	Process	Forebrain development	IBA
GO:0048513	Process	Animal organ development	IEA
GO:0060041	Process	Retina development in camera-type eye	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 167413
• HGNC: 8618
• e!Ensembl: ENSG00000106331

Protein

• 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

Pathways

KEGG:

Maturity onset diabetes of the young

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus, ketosis-prone	Benign; Likely benign; Uncertain significance	ClinVar ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes mellitus, ketosis-prone, susceptibility to	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NONINSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY ONSET DIABETES MELLITUS IN YOUNG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Maturity-onset diabetes of the young type 9	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAX4-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type 2 diabetes mellitus	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, GWAS catalog, HPO ClinVar, GWAS catalog, HPO ClinVar, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28375156		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	19228875	Associate	★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31168961	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10230653, 17426099, 20485196, 21263211, 25951767, 26435408, 27744525, 28268202, 28282933, 30280274		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	28730907, 29352517	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	29352517	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10230653, 12829700, 17426099, 20485196, 21263211, 25951767, 26435408, 27744525, 27841034, 28268202, 28282933, 30048825, 30280274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	21263211, 36208030	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	15509590, 19228875, 19956100	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	15509590, 21263211, 22296034, 26290879, 28730907, 31638168, 32741144, 32794382, 34135026, 35592779, 36208030, 36723869, 37234924	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15161765, 15834548, 16123375, 18617287, 19956100, 25511714, 30280274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	BEFREE	15509590		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	UNIPROT_DG	15509590		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10230653, 11723072, 12604352, 15509590, 16423628, 17426099, 22296034, 22521316, 23018631, 23532257, 24013263, 24439111, 24752311, 25511714, 27334367, 27744525, 28730907, 30280274, 30528630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	UNIPROT_DG	11723072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29632382, 30718926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	16701883		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	LHGDN	16701883		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	17989064, 26435408, 28730907		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperglycemia	Hyperglycemia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	17989064		★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	28730907, 29352517	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	11263967		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	25511714, 30280274		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25151965		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	10230653, 10967107, 17426099, 21263211, 22521316, 31638168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	ORPHANET_DG	17426099, 21263211, 22521316, 25041077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)	Mason type diabetes	UNIPROT_DG	17426099		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)	Mason type diabetes	BEFREE	25951767		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)	Mason type diabetes	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)	Mason type diabetes	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)	Mason type diabetes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	18949370		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18949370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	18949370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	18949370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY	Mason type diabetes	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	9598721		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18949370		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	27841034		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	18949370		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32794382	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24403055		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28965931		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	10666368	Associate	★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	25931474	Associate	★☆☆☆☆ Found in Text Mining only
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	BEFREE	9598721		★☆☆☆☆ Found in Text Mining only