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Aliases for PAX4 Gene

Aliases for PAX4 Gene

  • Paired Box 4 2 3 5
  • Paired Box Gene 4 2 3
  • Paired Box Protein Pax-4 3
  • Paired Domain Gene 4 3
  • MODY9 3
  • KPD 3

External Ids for PAX4 Gene

Previous GeneCards Identifiers for PAX4 Gene

  • GC07M125728
  • GC07M126791
  • GC07M126804
  • GC07M126844
  • GC07M127037
  • GC07M127250
  • GC07M121611

Summaries for PAX4 Gene

Entrez Gene Summary for PAX4 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 cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for PAX4 Gene

PAX4 (Paired Box 4) is a Protein Coding gene. Diseases associated with PAX4 include Maturity-Onset Diabetes Of The Young, Type 9 and Diabetes Mellitus, Ketosis-Prone. Among its related pathways are Regulation of beta-cell development and Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II distal enhancer sequence-specific DNA binding. An important paralog of this gene is PAX6.

UniProtKB/Swiss-Prot for PAX4 Gene

  • 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 promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.

Gene Wiki entry for PAX4 Gene

Additional gene information for PAX4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX4 Gene

Genomics for PAX4 Gene

GeneHancer (GH) Regulatory Elements for PAX4 Gene

Promoters and enhancers for PAX4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J127619 Enhancer 0.5 FANTOM5 650.7 -1.7 -1722 0.4 MTA2 GMEB1 IKZF1 MEF2B PAX4 FSCN3 GCC1 ENSG00000240790 SND1
GH07J127447 Enhancer 0.8 ENCODE 8.8 +170.7 170650 0.2 CTCF TFAP4 FOXA2 RB1 NFATC3 ZNF2 RAD21 CC2D1A CBX5 ARID2 ENSG00000224138 ZNF800 SND1 RBM28 GRM8 PAX4 GC07P127451
GH07J127620 Enhancer 0.5 ENCODE 0.7 -2.1 -2050 0.2 HDAC2 MTA2 GMEB1 IKZF1 SIN3A MEF2B GCC1 FSCN3 ENSG00000240790 SND1 PAX4
GH07J127621 Enhancer 0.5 ENCODE 0.7 -2.6 -2596 0.7 ZNF335 MTA2 GMEB1 IKZF1 SIN3A MEF2B SND1 ENSG00000240790 FSCN3 GCC1 PAX4
GH07J127629 Enhancer 0.6 ENCODE 0.4 -11.3 -11290 0.2 CTCF USF1 NR2F1 ZBTB11 TRIM22 SIN3A ZEB2 RAD21 XRCC5 CTBP1 SND1 ENSG00000240790 PAX4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAX4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PAX4 gene promoter:
  • LCR-F1
  • Egr-2
  • Pbx1a
  • AML1a
  • Pax-5
  • POU6F1 (c2)
  • AP-2gamma
  • SRF (504 AA)
  • SRF
  • AREB6

Genomic Locations for PAX4 Gene

Genomic Locations for PAX4 Gene
chr7:127,610,292-127,618,192
(GRCh38/hg38)
Size:
7,901 bases
Orientation:
Minus strand
chr7:127,250,346-127,255,982
(GRCh37/hg19)
Size:
5,637 bases
Orientation:
Minus strand

Genomic View for PAX4 Gene

Genes around PAX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX4 Gene

Proteins for PAX4 Gene

  • Protein details for PAX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43316-PAX4_HUMAN
    Recommended name:
    Paired box protein Pax-4
    Protein Accession:
    O43316
    Secondary Accessions:
    • O95161
    • Q6B0H0

    Protein attributes for PAX4 Gene

    Size:
    350 amino acids
    Molecular mass:
    37833 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AC073934; Type=Miscellaneous discrepancy; Note=According to the human genome assembly there is a stop codon in position 349.; Evidence={ECO:0000305};

    Alternative splice isoforms for PAX4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAX4 Gene

Post-translational modifications for PAX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PAX4 Gene

Domains & Families for PAX4 Gene

Gene Families for PAX4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for PAX4 Gene

Graphical View of Domain Structure for InterPro Entry

O43316

UniProtKB/Swiss-Prot:

PAX4_HUMAN :
  • Belongs to the paired homeobox family.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PAX4: view

Function for PAX4 Gene

Molecular function for PAX4 Gene

UniProtKB/Swiss-Prot 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 promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.
GENATLAS Biochemistry:
paired box (DNA binding) containing protein 4,with homeo domain,predominantly expressed in placenta and skeletal muscle,also expressed in heart and pancreas,essential for differentiation of insulin-producing beta-cells

Phenotypes From GWAS Catalog for PAX4 Gene

Gene Ontology (GO) - Molecular Function for PAX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
GO:0003677 DNA binding IEA,TAS 9480859
GO:0003690 double-stranded DNA binding IEA --
genes like me logo Genes that share ontologies with PAX4: view
genes like me logo Genes that share phenotypes with PAX4: view

Human Phenotype Ontology for PAX4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAX4 Gene

MGI Knock Outs for PAX4:
  • Pax4 Pax4<tm1b(EUCOMM)Hmgu>
  • Pax4 Pax4<tm1Pgr>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PAX4 Gene

Localization for PAX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAX4 gene
Compartment Confidence
nucleus 5
extracellular 2

Gene Ontology (GO) - Cellular Components for PAX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with PAX4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PAX4 Gene

Pathways & Interactions for PAX4 Gene

genes like me logo Genes that share pathways with PAX4: view

Gene Ontology (GO) - Biological Process for PAX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007623 circadian rhythm IEA --
genes like me logo Genes that share ontologies with PAX4: view

No data available for SIGNOR curated interactions for PAX4 Gene

Drugs & Compounds for PAX4 Gene

(3) Drugs for PAX4 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Repaglinide Approved, Investigational Pharma Kir6 (KATP) channel blocker 52
Rosiglitazone Approved, Investigational Pharma Full agonist, Agonist, Channel blocker, Activation, Activator Potent PPARγ agonist, Potent and selective PPARgamma agonist; antidiabetic agent. 222
genes like me logo Genes that share compounds with PAX4: view

Transcripts for PAX4 Gene

mRNA/cDNA for PAX4 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PAX4 Gene

Paired box 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAX4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1: - -
SP2: - - -
SP3:

Relevant External Links for PAX4 Gene

GeneLoc Exon Structure for
PAX4
ECgene alternative splicing isoforms for
PAX4

Expression for PAX4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PAX4 Gene

mRNA differential expression in normal tissues according to GTEx for PAX4 Gene

This gene is overexpressed in Testis (x23.3), Colon - Transverse (x12.4), and Small Intestine - Terminal Ileum (x10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PAX4 Gene



NURSA nuclear receptor signaling pathways regulating expression of PAX4 Gene:

PAX4

SOURCE GeneReport for Unigene cluster for PAX4 Gene:

Hs.129706

Evidence on tissue expression from TISSUES for PAX4 Gene

  • Intestine(4.3)
  • Pancreas(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PAX4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • penis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PAX4: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PAX4 Gene

Orthologs for PAX4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAX4 34 33
  • 99.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PAX4 34 33
  • 88.82 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pax4 33
  • 85.92 (n)
cow
(Bos Taurus)
Mammalia PAX4 34 33
  • 85.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pax4 16 34 33
  • 84.91 (n)
oppossum
(Monodelphis domestica)
Mammalia PAX4 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAX4 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733204 33
  • 61.95 (n)
zebrafish
(Danio rerio)
Actinopterygii pax4 34
  • 36 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta toy 34
  • 26 (a)
ManyToMany
ey 34
  • 17 (a)
ManyToMany
toe 34
  • 17 (a)
ManyToMany
eyg 34
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea vab-3 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToMany
Species where no ortholog for PAX4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAX4 Gene

ENSEMBL:
Gene Tree for PAX4 (if available)
TreeFam:
Gene Tree for PAX4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAX4: view image

Paralogs for PAX4 Gene

Paralogs for PAX4 Gene

(13) SIMAP similar genes for PAX4 Gene using alignment to 6 proteins:

  • PAX4_HUMAN
  • A4D0Z1_HUMAN
  • G3V4Q1_HUMAN
  • J3KPG0_HUMAN
  • Q3KNR4_HUMAN
  • Q3KNR5_HUMAN
genes like me logo Genes that share paralogs with PAX4: view

Variants for PAX4 Gene

Sequence variations from dbSNP and Humsavar for PAX4 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1055142955 uncertain-significance, Maturity-onset diabetes of the young 127,615,713(-) C/T 5_prime_UTR_variant, intron_variant
rs1057524894 uncertain-significance, Monogenic diabetes 127,615,417(-) A/G coding_sequence_variant, missense_variant
rs114202595 pathogenic, Diabetes mellitus type 2, Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] 127,614,533(-) G/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs114315130 likely-benign, Maturity-onset diabetes of the young 127,613,524(-) G/A/T coding_sequence_variant, missense_variant
rs115887120 likely-benign, Maturity-onset diabetes of the young 127,615,429(-) C/A/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PAX4 Gene

Variant ID Type Subtype PubMed ID
nsv831122 CNV gain 17160897
nsv949937 CNV deletion 24416366

Variation tolerance for PAX4 Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.88; 67.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAX4 Gene

Human Gene Mutation Database (HGMD)
PAX4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAX4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX4 Gene

Disorders for PAX4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PAX4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

PAX4_HUMAN
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:11723072}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:15834548}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Diabetes mellitus, ketosis-prone (KPD) [MIM:612227]: An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding. {ECO:0000269 PubMed:15509590}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Maturity-onset diabetes of the young 9 (MODY9) [MIM:612225]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:17426099}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PAX4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PAX4: view

No data available for Genatlas for PAX4 Gene

Publications for PAX4 Gene

  1. PAX4 mutations in Thais with maturity onset diabetes of the young. (PMID: 17426099) Plengvidhya N … Banchuin N (The Journal of clinical endocrinology and metabolism 2007) 3 4 22 44 58
  2. Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. (PMID: 15834548) Biason-Lauber A … Schoenle EJ (Diabetologia 2005) 3 4 22 44 58
  3. PAX4 gene variations predispose to ketosis-prone diabetes. (PMID: 15509590) Mauvais-Jarvis F … Vaisse C (Human molecular genetics 2004) 3 4 22 44 58
  4. A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. (PMID: 11723072) Shimajiri Y … Nanjo K (Diabetes 2001) 3 4 22 44 58
  5. A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. (PMID: 19228875) Haaland WC … Metzker ML (Diabetes care 2009) 3 22 44 58

Products for PAX4 Gene

Sources for PAX4 Gene

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