Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5078
Gene name	Paired box 4
Gene symbol	PAX4
Synonyms (NCBI Gene)	KPDMODY9
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

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
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

Show/Hide all (1)

Transcription factor	Regulation	Reference
ARX	Unknown	23771350

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
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

MIM	HGNC	e!Ensembl
167413	8618	ENSG00000106331

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

	KEGG
	Maturity onset diabetes of the young

191

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign; Likely benign	rs327517	RCV005889183
Diabetes mellitus, ketosis-prone	Benign; Likely benign; Uncertain significance	rs141407429, rs370095957, rs147279315, rs369459316, rs116124047, rs147670794, rs587780414, rs377152445, rs375269956, rs115887120, rs376403180, rs138902071, rs115157546, rs143156250, rs375472849 View all (4 more)	RCV002506671 RCV002477995 RCV005040367 RCV002488616 RCV002506817 RCV002503315 RCV002490803 RCV002506901 RCV002490106 RCV002486863 RCV002500119 RCV002505847 RCV002494124 RCV002494133 RCV003336812 RCV003336006 RCV002488797 RCV002488799 RCV002488798 RCV005398563
Diabetes mellitus, ketosis-prone, susceptibility to	Benign; Likely benign; Conflicting classifications of pathogenicity	rs2233578, rs35155575	RCV000014801 RCV000014802
Hyperglycemia	Conflicting classifications of pathogenicity	rs35155575	RCV003223336
Maturity-onset diabetes of the young	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs587780414, rs2233580, rs77039439, rs327517, rs712701, rs114202595, rs2233578, rs759186282, rs886061964, rs886061965, rs61297182, rs405576, rs200757052, rs712700, rs2233585 View all (31 more)	RCV000374614 RCV000277989 RCV000280185 RCV000338737 RCV000302621 RCV002227035 RCV000397400 RCV000400686 RCV000356918 RCV000316209 RCV000291363 RCV000382162 RCV000287627 RCV000299372 RCV000354202 RCV000266109 RCV000327213 RCV000272111 RCV000381266 RCV000293096 RCV000342610 RCV000274890 RCV000311344 RCV000361587 RCV000366634 RCV000363421 RCV000369526 RCV000321838 RCV000262111 RCV000398194 RCV000351886 RCV000348262 RCV000332981 RCV000387437 RCV000302947 RCV000308773 RCV000268835 RCV000314771 RCV000266780 RCV000376450 RCV000327540 RCV000293575 RCV000396753 RCV000402021 RCV000306055 RCV000360663 RCV000339209 RCV000401049 RCV000333910
Maturity-onset diabetes of the young type 9	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs141407429, rs370095957, rs147279315, rs369459316, rs116124047, rs147670794, rs587780414, rs377152445, rs528075802, rs2233583, rs375269956, rs115887120, rs376403180, rs138902071, rs115157546 View all (16 more)	RCV002506671 RCV002477995 RCV005040367 RCV002488616 RCV002506817 RCV002503315 RCV002490803 RCV002506901 RCV005860279 RCV002468339 RCV002490106 RCV002486863 RCV002500119 RCV002505847 RCV002494124 RCV002494133 RCV002468502 RCV003336812 RCV003228584 RCV003329142 RCV003336006 RCV002467494 RCV000014803 RCV000014804 RCV004797806 RCV002488797 RCV002488799 RCV002488798 RCV005398563 RCV000505682 RCV002467981 RCV003228644
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs2233580, rs2233578, rs3824004, rs144792551, rs142426878, rs1057524894, rs112061448	RCV000664116 RCV000445408 RCV000664117 RCV000445454 RCV000445523 RCV000445516 RCV000664114
PAX4-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs147670794, rs377152445, rs115887120, rs143156250, rs771108079, rs778666797, rs2535521779, rs963996956, rs770946559, rs371715169, rs712700, rs2233585, rs144792551, rs115923648, rs2535509281 View all (7 more)	RCV003913402 RCV003948777 RCV003978622 RCV003978588 RCV003898488 RCV003410286 RCV003406087 RCV003422458 RCV003946637 RCV005867757 RCV003972511 RCV003902395 RCV003922588 RCV004754413 RCV003896773 RCV003983481 RCV003911431 RCV003949766 RCV003969369 RCV003932698 RCV003935298 RCV003938017
Type 2 diabetes mellitus	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs141407429, rs370095957, rs147279315, rs369459316, rs116124047, rs147670794, rs587780414, rs712701, rs377152445, rs2233583, rs375269956, rs115887120, rs376403180, rs138902071, rs115157546 View all (14 more)	RCV002506671 RCV002477995 RCV005040367 RCV002488616 RCV002506817 RCV002503315 RCV002490803 RCV001787923 RCV002506901 RCV002468339 RCV002490106 RCV002486863 RCV002500119 RCV002505847 RCV002494124 RCV002494133 RCV002468502 RCV003336812 RCV003228584 RCV003336006 RCV000014800 RCV002467494 RCV005861018 RCV001788206 RCV002488797 RCV002488799 RCV002488798 RCV005398563 RCV002467981 RCV003228644

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Neoplasms	Associate	21682879
Obesity	Associate	32794382
Rhabdomyosarcoma Alveolar	Associate	10666368
Vitamin D Deficiency	Associate	25931474

PAX4 (paired box 4)