PDX1 Gene (Protein Coding)

Pancreatic And Duodenal Homeobox 1

GC13P027921
GIFtS:
48
The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a ca... See more...

Aliases for PDX1 Gene

Aliases for PDX1 Gene

  • Pancreatic And Duodenal Homeobox 1 2 3 5
  • IDX-1 2 3 4
  • PDX-1 2 3 4
  • STF-1 2 3 4
  • Insulin Promoter Factor 1, Homeodomain Transcription Factor 2 3
  • Somatostatin-Transactivating Factor 1 3 4
  • Pancreas/Duodenum Homeobox Protein 1 3 4
  • Somatostatin Transcription Factor 1 2 3
  • Insulin Upstream Factor 1 3 4
  • Islet/Duodenum Homeobox-1 3 4
  • Glucose-Sensitive Factor 3 4
  • MODY4 2 3
  • IPF-1 3 4
  • IUF-1 3 4
  • IPF1 3 4
  • GSF 3 4
  • Pancreatic-Duodenal Homeobox Factor 1 3
  • Insulin Promoter Factor 1 4
  • PAGEN1 3
  • IUF1 3
  • PDX1 5
  • STF1 4

External Ids for PDX1 Gene

Previous HGNC Symbols for PDX1 Gene

  • IPF1

Previous GeneCards Identifiers for PDX1 Gene

  • GC11P036490
  • GC11P035616
  • GC13P027393
  • GC13P028494
  • GC13P009314

Summaries for PDX1 Gene

Entrez Gene Summary for PDX1 Gene

  • The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]

GeneCards Summary for PDX1 Gene

PDX1 (Pancreatic And Duodenal Homeobox 1) is a Protein Coding gene. Diseases associated with PDX1 include Maturity-Onset Diabetes Of The Young, Type 4 and Pancreatic Agenesis 1. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Type II diabetes mellitus. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is HOXA3.

UniProtKB/Swiss-Prot Summary for PDX1 Gene

  • Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell.

Gene Wiki entry for PDX1 Gene

Additional gene information for PDX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDX1 Gene

Genomics for PDX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PDX1 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
GH13J027919 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 250.7 +1.5 1518 3.8 ZNF600 SP2 GABPB1 ZNF189 CBX8 NFYC ZFX ZNF561 ZBTB8A L3MBTL2 PDX1 PLUT piR-60985-029 CDX2
GH13J027917 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 277.3 -1.9 -1879 2.2 NR2C1 KDM6A SMAD4 RARA BCL6 CBX8 BMI1 ZNF48 NR2F1 TRIM28 PDX1 HSALNG0095975 PLUT GSX1
GH13J027952 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 +35.5 35487 6 ZNF654 ZNF207 YY1 REST ZNF592 TARDBP ZNF341 CTCF FOXA2 CTBP1 HSALNG0095981 LINC00543 lnc-CDX2-1 CDX2 PLUT PDX1 GSX1 URAD HSALNG0095983 HSALNG0095979
GH13J027958 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.5 +50.6 50555 23.4 ZNF600 SSRP1 KLF9 CEBPA ZBTB10 YY1 MXD4 FOXA1 ETS1 TRIM22 CDX2 URAD PLUT PDX1 GSX1 RN7SL272P LNX2 FLT3 HSALNG0095985-001 LOC105370132
GH13J027984 Enhancer 0.8 ENCODE dbSUPER 12.4 +64.5 64457 0.2 ZNF654 CEBPA CTCF ZNF592 TRIM22 RAD21 SMC3 BCL6 HNF4A ARID3A PDX1 PLUT GSX1 LOC105370132 URAD HSALNG0095985-001 HSALNG0095985-002 CDX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDX1

Top Transcription factor binding sites by QIAGEN in the PDX1 gene promoter:
  • AP-4
  • E47
  • Egr-1
  • HEN1
  • NRSF form 1
  • NRSF form 2
  • p300
  • RORalpha1

Genomic Locations for PDX1 Gene

Latest Assembly
chr13:27,919,982-27,926,313
(GRCh38/hg38)
Size:
6,332 bases
Orientation:
Plus strand

Previous Assembly
chr13:28,494,137-28,500,450
(GRCh37/hg19 by Entrez Gene)
Size:
6,314 bases
Orientation:
Plus strand

chr13:28,494,157-28,500,368
(GRCh37/hg19 by Ensembl)
Size:
6,212 bases
Orientation:
Plus strand

Genomic View for PDX1 Gene

Genes around PDX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDX1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PDX1 Gene

Proteins for PDX1 Gene

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  • Protein details for PDX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52945-PDX1_HUMAN
    Recommended name:
    Pancreas/duodenum homeobox protein 1
    Protein Accession:
    P52945
    Secondary Accessions:
    • O60594
    • Q5VYW2

    Protein attributes for PDX1 Gene

    Size:
    283 amino acids
    Molecular mass:
    30771 Da
    Quaternary structure:
    • Interacts with the basic helix-loop-helix domains of TCF3(E47) and NEUROD1 and with HMG-I(Y). Interacts with SPOP (By similarity). Interacts with the methyltransferase SETD7. Part of a PDX1:PBX1b:MEIS2b complex.
    Miscellaneous:
    • According to PubMed:16141209, it may be methylated by SETD7 in vitro. However, the relevance of methylation is unsure in vivo.

    Three dimensional structures from OCA and Proteopedia for PDX1 Gene

neXtProt entry for PDX1 Gene

Protein Expression for PDX1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PDX1 Gene

  • Phosphorylated by the SAPK2 pathway at high intracellular glucose concentration. Phosphorylated by HIPK2 on Ser-268 upon glucose accumulation. This phosphorylation mediates subnuclear localization shifting. Phosphorylation by PASK may lead to translocation into the cytosol (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for PDX1

No data available for DME Specific Peptides for PDX1 Gene

Domains & Families for PDX1 Gene

Gene Families for PDX1 Gene

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

Protein Domains for PDX1 Gene

InterPro:
Blocks:
  • Lambda and other repressor helix-turn-helix signature
  • Homeobox protein, antennapedia type

Suggested Antigen Peptide Sequences for PDX1 Gene

GenScript: Design optimal peptide antigens:
  • Somatostatin-transactivating factor 1 (PDX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52945

UniProtKB/Swiss-Prot:

PDX1_HUMAN :
  • The Antp-type hexapeptide mediates heterodimerization with PBX on a regulatory element of the somatostatin promoter.
  • Belongs to the Antp homeobox family. IPF1/XlHbox-8 subfamily.
Domain:
  • The Antp-type hexapeptide mediates heterodimerization with PBX on a regulatory element of the somatostatin promoter.
  • The homeodomain, which contains the nuclear localization signal, not only mediates DNA-binding, but also acts as a protein-protein interaction domain for TCF3(E47), NEUROD1 and HMG-I(Y).
Family:
  • Belongs to the Antp homeobox family. IPF1/XlHbox-8 subfamily.
genes like me logo Genes that share domains with PDX1: view

Function for PDX1 Gene

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  6. Cell Lines for research

Molecular function for PDX1 Gene

UniProtKB/Swiss-Prot Function:
Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell.
GENATLAS Biochemistry:
lipoyl-containing protein (protein X),subunit of the pyruvate dehydrogenase complex,tightly associated with E2 and binding E3 subunit

Phenotypes From GWAS Catalog for PDX1 Gene

Gene Ontology (GO) - Molecular Function for PDX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 17941991
genes like me logo Genes that share ontologies with PDX1: view
genes like me logo Genes that share phenotypes with PDX1: view

Human Phenotype Ontology for PDX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDX1 Gene

MGI Knock Outs for PDX1:

Animal Models for research

Targeted motifs for PDX1 Gene
HOMER Transcription Factor Regulatory Elements motif PDX1
  • Consensus sequence: TCATCAATCA Submotif: canonical Cell Type: Islet GEO ID: SRA008281

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDX1

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targets for PDX1 Gene

Localization for PDX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDX1 Gene

Nucleus. Cytoplasm, cytosol.

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 PDX1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with PDX1: view

Pathways & Interactions for PDX1 Gene

genes like me logo Genes that share pathways with PDX1: view

SIGNOR curated interactions for PDX1 Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PDX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001889 liver development IEA --
GO:0003309 type B pancreatic cell differentiation IBA,ISS --
GO:0006006 glucose metabolic process IEA --
GO:0006091 generation of precursor metabolites and energy TAS 8954967
genes like me logo Genes that share ontologies with PDX1: view

Drugs & Compounds for PDX1 Gene

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  1. Drug products for research

(18) Drugs for PDX1 Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Approved, Experimental, Investigational Pharma Target, ligand 123
BRD 7552 Pharma Inducer of PDX1 transcription factor 0

(15) Additional Compounds for PDX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for PDX1 Gene

Compound Action Cas Number
BRD 7552 Inducer of PDX1 transcription factor 1137359-47-7
genes like me logo Genes that share compounds with PDX1: view

Drug products for research

Transcripts for PDX1 Gene

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mRNA/cDNA for PDX1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDX1

Alternative Splicing Database (ASD) splice patterns (SP) for PDX1 Gene

No ASD Table

Relevant External Links for PDX1 Gene

GeneLoc Exon Structure for
PDX1

Expression for PDX1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDX1 Gene

mRNA expression in normal human tissues for PDX1 Gene
mRNA expression by BioGPS for PDX1 GenemRNA expression by GTEx for PDX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDX1 Gene

This gene is overexpressed in Pancreas (x40.4) and Small Intestine - Terminal Ileum (x4.8).

Protein differential expression in normal tissues from HIPED for PDX1 Gene

This gene is overexpressed in Pancreas (55.9) and Islet of Langerhans (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PDX1 Gene



Protein tissue co-expression partners for PDX1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDX1

SOURCE GeneReport for Unigene cluster for PDX1 Gene:

Hs.32938

mRNA Expression by UniProt/SwissProt for PDX1 Gene:

P52945-PDX1_HUMAN
Tissue specificity: Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells, at low levels in acinar cells).

Evidence on tissue expression from TISSUES for PDX1 Gene

  • Pancreas(4.8)
  • Intestine(2.8)
  • Gall bladder(2.1)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDX1 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
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • skull
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
Pelvis:
  • penis
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PDX1: view

Primer products for research

Orthologs for PDX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDX1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PDX1 29 30
  • 99.65 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PDX1 29 30
  • 89.05 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PDX1 29 30
  • 87.23 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pdx1 29 16 30
  • 83.51 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pdx1 29
  • 82.45 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PDX1 30
  • 72 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PDX1 30
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PDX1 29 30
  • 79.09 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PDX1 30
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pdx1 29
  • 68.91 (n)
Zebrafish
(Danio rerio)
 Actinopterygii pdx1 29 30
  • 66.51 (n)
 OneToOne
ipf1 29
Worm
(Caenorhabditis elegans)
 Secernentea C30H6.7 31
  • 38 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 27 (a)
 OneToOne
Species where no ortholog for PDX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 Vase (Ciona intestinalis)
  • 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 PDX1 Gene

ENSEMBL:
Gene Tree for PDX1 (if available)
TreeFam:
Gene Tree for PDX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDX1: view image
Alliance of Genome Resources:
Additional Orthologs for PDX1

Paralogs for PDX1 Gene

Paralogs for PDX1 Gene

(2) SIMAP similar genes for PDX1 Gene using alignment to 1 proteins:

  • PDX1_HUMAN
genes like me logo Genes that share paralogs with PDX1: view

Variants for PDX1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDX1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
1043044 Uncertain Significance: not provided 27,920,349(+) C/A
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) 		MISSENSE
917442 Uncertain Significance: Monogenic diabetes 27,920,346(+) G/A
NM_000209.4(PDX1):c.208G>A (p.Val70Met) 		MISSENSE
917443 Uncertain Significance: Monogenic diabetes 27,924,304(+) C/T
NM_000209.4(PDX1):c.455C>T (p.Ala152Val) 		MISSENSE
917444 Uncertain Significance: Monogenic diabetes 27,920,265(+) C/CGCCG
NM_000209.4(PDX1):c.127_128insGCCG (p.Pro43fs) 		FRAMESHIFT
995160 Uncertain Significance: not provided 27,924,323(+) G/T
NM_000209.4(PDX1):c.474G>T (p.Leu158=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PDX1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PDX1 Gene

Variant ID Type Subtype PubMed ID
dgv538e212 CNV gain 25503493

Variation tolerance for PDX1 Gene

Gene Damage Index Score: 3.52; 55.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDX1 Gene

Human Gene Mutation Database (HGMD)
PDX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDX1
Leiden Open Variation Database (LOVD)
PDX1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDX1 Gene

Disorders for PDX1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for PDX1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PDX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PDX1_HUMAN
  • Pancreatic agenesis 1 (PAGEN1) [MIM:260370]: A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency. {ECO:0000269 PubMed:8988180}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's 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. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392]: 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:9326926}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PDX1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PDX1: view

No data available for Genatlas for PDX1 Gene

Publications for PDX1 Gene

  1. Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. (PMID: 10545530) Macfarlane WM … Hattersley AT (The Journal of clinical investigation 1999) 3 4 22 72
  2. A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. (PMID: 20009086) Nicolino M … Julier C (Diabetes 2010) 3 22 72
  3. Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. (PMID: 18811724) Plengvidhya N … Yenchitsomanus PT (Clinical endocrinology 2009) 3 22 40
  4. 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 40
  5. Role of a proline insertion in the insulin promoter factor 1 (IPF1) gene in African Americans with type 2 diabetes. (PMID: 17003361) Elbein SC … Kao WH (Diabetes 2006) 3 22 40

ExternalLinks

View latest publications for PDX1 gene in Mastermind

Products for PDX1 Gene

  • Addgene plasmids for PDX1

Sources for PDX1 Gene