PDX1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PDX1 (HGNC:6107) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
pancreatic and duodenal homeobox 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
IPF1
Alias symbols
IDX-1, STF-1, PDX-1, MODY4, GSF, IUF-1
%HI
15(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.64(Read more about gnomAD LOEUF score)
Cytoband
13q12.2
Genomic Coordinates
GRCh37/hg19: chr13:28494137-28500450 NCBI Ensembl UCSC
GRCh38/hg38: chr13:27920000-27926313 NCBI Ensembl UCSC
MANE Select Transcript
NM_000209.4 ENST00000381033.5 (Read more about MANE Select)
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 preferentiall... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24016
ClinGen Curation ID:
CCID:007637
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000013.10) (NC_000013.11)