Aliases for PDX1 Gene
Aliases for PDX1 Gene
- Pancreatic And Duodenal Homeobox 1 2 3 5
- Insulin Promoter Factor 1, Homeodomain Transcription Factor 2 3
- Somatostatin-Transactivating Factor 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
- IDX-1 3 4
- IPF-1 3 4
- IUF-1 3 4
- PDX-1 3 4
External Ids for PDX1 Gene
- HGNC: 6107
- Entrez Gene: 3651
- Ensembl: ENSG00000139515
- OMIM: 600733
- UniProtKB: P52945
Previous HGNC Symbols for PDX1 Gene
- IPF1
Previous GeneCards Identifiers for PDX1 Gene
- GC11P036490
- GC11P035616
- GC13P027393
- GC13P028494
- GC13P009314
Summaries 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 Type II diabetes mellitus and Regulation of beta-cell development. 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 HOXD3.
UniProtKB/Swiss-Prot 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.
Additional gene information for PDX1 Gene
- Monarch Initiative
- Search for PDX1 at DataMed
- Search for PDX1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDX1 Gene
Genomics for PDX1 Gene
GeneHancer (GH) Regulatory Elements for PDX1 Gene
Promoters and enhancers for PDX1 Gene
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PDX1 gene promoter:
-
- p300
- Egr-1
- E47
- HEN1
- RORalpha1
- NRSF form 2
- NRSF form 1
- AP-4
Regulatory Element Products
Genomic Locations for PDX1 Gene
Genomic Locations for PDX1 Gene
- chr13:27,919,994-27,926,314
- (GRCh38/hg38)
- Size:
- 6,321 bases
- Orientation:
- Plus strand
- chr13:28,494,157-28,500,451
- (GRCh37/hg19)
- Size:
- 6,295 bases
- Orientation:
- Plus strand
Genomic View for PDX1 Gene
Genes around PDX1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 13q12.2 by Entrez Gene
- 13q12.2 by HGNC
- 13q12.2 by Ensembl
PDX1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PDX1 Gene
Proteins for PDX1 Gene
-
Protein details for PDX1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P52945-PDX1_HUMAN
- Recommended name:
- Pancreas/duodenum homeobox protein 1
- Protein Accession:
- P52945
- 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.
Protein Expression for PDX1 Gene
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:
Antibody Products
- R&D Systems Antibodies for PDX1 (PDX-1/IPF1)
-
Custom Antibody ServicesOriGene Antibodies for PDX1
- Novus Biologicals Antibodies for PDX1
-
Abcam antibodies for PDX1
- Invitrogen Antibodies for PDX1 (AFLGC-PDX1)
- antibodies-online: Search results for 250 available PDX1 Antibodies ranked by validation data
- Compare Top PDX1 Antibodies
-
Recommended
- 39 WB Antibodies (anti-mouse)
- 12 IF (cc) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 28 WB Antibodies (anti-rat)
- 12 IF (cc) Antibodies (anti-rat)
- 157 WB Antibodies (anti-human)
- 12 IF (cc) Antibodies (anti-human)
- 10 FACS Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 DB Antibodies (anti-human)
- 3 IF Antibodies (anti-human)
- 1 EIA Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- GeneTex PDX1 Antibody for PDX1
-
Boster Bio Antibodies for PDX1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PDX1
- Sino Biological Antibodies for PDX1
Protein Products
-
OriGene Purified Proteins for PDX1
- Search Origene for MassSpec and Protein Over-expression Lysates for PDX1
- Origene Custom Protein Services for PDX1
- Search GeneTex for Proteins for PDX1
-
Abcam proteins for PDX1
Assay Products
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for PDX1 (PDX-1/IPF1)
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
Suggested Antigen Peptide Sequences for PDX1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P52945UniProtKB/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.
Function for PDX1 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | NAS | 19274049 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0003700 | DNA binding transcription factor activity | TAS | 17941991 |
Phenotypes for PDX1 Gene
- MGI mutant phenotypes for PDX1:
-
inferred from 10 alleles
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- no phenotypic analysis
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- normal phenotype
- renal/urinary system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for PDX1:
-
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Increased Nanog expression
- Decreased viability
- no effect
- Increased caspase activity
- Decreased viability with paclitaxel
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability after Maraba virus infection
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
Animal Models for PDX1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PDX1
-
CRISPR Products
-
OriGene CRISPR knockouts for PDX1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDX1
- genomics-online: gRNA clones - Search results for 75 available PDX1 gene related products
- Overview of 75 available PDX1 gene related products
- Applied Biological Materials CRISPR for PDX1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDX1
- GenScript: Design CRISPR guide RNA sequences for PDX1
Targeted motifs for PDX1 Gene
HOMER Transcription Factor Regulatory Elements motif PDX1
- Consensus sequence: TCATCAATCA Submotif: canonical Cell Type: Islet GEO ID: SRA008281
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDX1
- Browse OriGene Inhibitory RNA Products For PDX1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDX1
- genomics-online: shRNA clones - Search results for 75 available PDX1 gene related products
- Overview of 75 available PDX1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PDX1
- Addgene plasmids for PDX1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDX1
- Applied Biological Materials Clones for PDX1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
Pathways & Interactions for PDX1 Gene
Pathways by source for PDX1 Gene
2 BioSystems pathways for PDX1 Gene
4 Reactome pathways for PDX1 Gene
1 PharmGKB pathway for PDX1 Gene
3 KEGG pathways for PDX1 Gene
1 R&D Systems pathway for PDX1 Gene
1 Qiagen pathway for PDX1 Gene
1 Cell Signaling Technology pathway for PDX1 Gene
Interacting Proteins for PDX1 Gene
GPS-Prot Interaction Network for PDX1
| 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 | ISS | -- |
| GO:0006006 | glucose metabolic process | IEA | -- |
| GO:0006091 | generation of precursor metabolites and energy | TAS | 8954967 |
No data available for SIGNOR curated interactions for PDX1 Gene
Transcripts for PDX1 Gene
mRNA/cDNA for PDX1 Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (26) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000381033 2501 bps (uc001urt.3)
Unigene Clusters for PDX1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PDX1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDX1
- genomics-online: gRNA clones - Search results for 75 available PDX1 gene related products
- Overview of 75 available PDX1 gene related products
- Applied Biological Materials CRISPR for PDX1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDX1
- GenScript: Design CRISPR guide RNA sequences for PDX1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDX1
- Browse OriGene Inhibitory RNA Products For PDX1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDX1
- genomics-online: shRNA clones - Search results for 75 available PDX1 gene related products
- Overview of 75 available PDX1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PDX1
- Addgene plasmids for PDX1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDX1
- Applied Biological Materials Clones for PDX1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PDX1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Immature Beta Progenitor Cells Dorsal Pancreatic Bud
- Acinar Progenitor Cells Dorsal Pancreatic Bud
- Prepancreatic Foregut Endoderm Cells Prepancreatic Ventral Foregut Endoderm
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
-
Epithelial Cells
- Acinar Progenitor Cells Dorsal Pancreatic Bud
- Prepancreatic Foregut Endoderm Cells Prepancreatic Ventral Foregut Endoderm
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- G-cells Islets of Langerhans
- NULL (Uncategorized)
-
Gut Tube (Gastrointestinal Tract)
- Prepancreatic Foregut Endoderm Cells Prepancreatic Ventral Foregut Endoderm
- Prepancreatic Foregut Endoderm Cells Prepancreatic Dorsal Foregut Endoderm
- Midgut Endoderm Cells Midgut
- Anterior foregut progenitor cells(Wong AP et. al. 2012)
- Endoderm (Gastrulation Derivatives)
- Blood (Hematopoietic System)
- Brain (Nervous System)
- Intestine (Gastrointestinal Tract)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PDX1 Gene:
PDX1SOURCE GeneReport for Unigene cluster for PDX1 Gene:
Hs.32938mRNA 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(2.6)
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
Primer Products
-
OriGene qPCR primer pairs for PDX1
-
OriGene qPCR primer pairs and template standards for PDX1
- genomics-online: primer clones - Search results for 75 available PDX1 gene related products
- Overview of 75 available PDX1 gene related products
Gene Expression Assay Products
Orthologs for PDX1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PDX1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PDX1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PDX1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pdx1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pdx1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PDX1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PDX1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PDX1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PDX1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pdx1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pdx1 34 33 |
|
OneToOne | |
| ipf1 33 |
|
||||
| worm (Caenorhabditis elegans) |
Secernentea | C30H6.7 35 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for PDX1 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)
- 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 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
Paralogs for PDX1 Gene
Variants for PDX1 Gene
| SNP ID | Clin | Chr 13 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs137852783 | risk-factor, not-provided, conflicting-interpretations-of-pathogenicity, likely-benign, Diabetes mellitus type 2, Maturity-onset diabetes of the young, type 4, not specified, Monogenic diabetes | 27,920,364(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs137852784 | risk-factor, Diabetes mellitus type 2 | 27,920,314(+) | A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs137852785 | risk-factor, likely-pathogenic, Diabetes mellitus type 2, not provided | 27,920,190(+) | T/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs137852786 | risk-factor, Diabetes mellitus type 2 | 27,924,439(+) | G/A | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant | |
| rs137852787 | uncertain-significance, benign, Maturity-onset diabetes of the young, type 4, Monogenic diabetes, not specified | 27,924,519(+) | G/A | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv538e212 | CNV | gain | 25503493 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDX1 Gene
Disorders for PDX1 Gene
(15) MalaCards diseases for PDX1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| maturity-onset diabetes of the young, type 4 |
|
|
| pancreatic agenesis 1 |
|
|
| pancreatic agenesis |
|
|
| pancreas, dorsal, agenesis of |
|
|
| maturity-onset diabetes of the young |
|
|
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 mutations 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 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. Note=Disease susceptibility is associated with variations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for PDX1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PDX1 Gene
Publications for PDX1 Gene
- 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 44 58
- 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 58
- Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. (PMID: 10545531) Hani EH … Froguel P (The Journal of clinical investigation 1999) 3 4 22 58
- The p38/reactivating kinase mitogen-activated protein kinase cascade mediates the activation of the transcription factor insulin upstream factor 1 and insulin gene transcription by high glucose in pancreatic beta-cells. (PMID: 9252422) Macfarlane WM … Docherty K (The Journal of biological chemistry 1997) 3 4 22 58
- Isolation, characterization, and chromosomal mapping of the human insulin promoter factor 1 (IPF-1) gene. (PMID: 8635654) Inoue H … Permutt MA (Diabetes 1996) 3 4 22 58
Products for PDX1 Gene
- R&D Systems Antibodies for PDX1 (PDX-1/IPF1)
- Browse R&D Systems for Human Recombinant Proteins
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for PDX1 (PDX-1/IPF1)
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
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- Custom Antibody ServicesOriGene Antibodies for PDX1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PDX1
- Search Origene for MassSpec and Protein Over-expression Lysates for PDX1
- Origene Custom Protein Services for PDX1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDX1
- Browse OriGene Inhibitory RNA Products For PDX1
- OriGene qPCR primer pairs for PDX1
- OriGene qPCR primer pairs and template standards for PDX1
- OriGene CRISPR knockouts for PDX1
- OriGene ORF clones in human for PDX1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PDX1
- GenScript: Next-day shipping of latest version cDNA ORF clones for PDX1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PDX1
- GenScript Custom Assay Services for PDX1
- GenScript Custom overexpressing Cell Line Services for PDX1
- GenScript: Design CRISPR guide RNA sequences for PDX1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PDX1
- Sino Biological Human cDNA Clone for PDX1
- Browse Sino Biological Recombinant Proteins
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- Sino Biological Antibodies for PDX1
- Browse Sino Biological Assays
- Browse Antibodies
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PDX1
- Novus Biologicals proteins and lysates for PDX1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for PDX1
- Abcam proteins for PDX1
- Find your target
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- Search Knockout (KO) Validated Antibodies
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- Invitrogen Antibodies for PDX1 (AFLGC-PDX1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for PDX1
- Addgene plasmids for PDX1
- antibodies-online: Search results for 250 available PDX1 Antibodies ranked by validation data
- Compare Top PDX1 Antibodies
- Recommended
- 39 WB Antibodies (anti-mouse)
- 12 IF (cc) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 28 WB Antibodies (anti-rat)
- 12 IF (cc) Antibodies (anti-rat)
- 157 WB Antibodies (anti-human)
- 12 IF (cc) Antibodies (anti-human)
- 10 FACS Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 DB Antibodies (anti-human)
- 3 IF Antibodies (anti-human)
- 1 EIA Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- antibodies-online: Search results for 13 available PDX1 Elisa Kits ranked by validation data
- Compare Top PDX1 Elisa Kits
- antibodies-online: Search results for 11 available PDX1 Proteins ranked by validation data
- Compare Top PDX1 Proteins
- GeneTex PDX1 Antibody for PDX1
- Search GeneTex for Proteins for PDX1
- Santa Cruz Biotechnology (SCBT) Antibodies for PDX1
- Search Santa Cruz Biotechnology (SCBT) for PDX1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PDX1
- Horizon Cell Lines for PDX1
- genomics-online: cdna clones - Search results for 75 available PDX1 gene related products
- Overview of 75 available PDX1 gene related products
- orf clones - Search results for 75 available PDX1 gene related products
- Overview of 75 available PDX1 gene related products
- genomics-online: gRNA clones - Search results for 75 available PDX1 gene related products
- Overview of 75 available PDX1 gene related products
- genomics-online: primer clones - Search results for 75 available PDX1 gene related products
- Overview of 75 available PDX1 gene related products
- genomics-online: shRNA clones - Search results for 75 available PDX1 gene related products
- Overview of 75 available PDX1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDX1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDX1
- GeneCopoeia miRNA 3'UTR Target clone products for PDX1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDX1
- Boster Bio Antibodies for PDX1
- Browse Boster Bio ELISA Kits
Sources for PDX1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt