PTF1A (pancreas associated transcription factor 1a)

2016-04-01  

Identity

HGNC
PTF1A
LOCATION
10p12.2
LOCUSID
256297
ALIAS
PACA,PAGEN2,PTF1-p48,bHLHa29,p48

Other Information

Locus ID:

NCBI: 256297
MIM: 607194
HGNC: 23734
Ensembl: ENSG00000168267

Variants:

dbSNP: 256297
ClinVar: 256297
TCGA: ENSG00000168267
COSMIC: PTF1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168267ENST00000376504Q7RTS3
ENSG00000168267ENST00000638469A0A1W2PQC4
ENSG00000168267ENST00000639082A0A1W2PRT5
ENSG00000168267ENST00000639873A0A1W2PPH2
ENSG00000168267ENST00000640579A0A1W2PR29
ENSG00000168267ENST00000640697A0A1W2PQF5

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in early pancreatic precursor cellsREACTOMER-HSA-210747

References

Pubmed IDYearTitleCitations
328938562020Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.5
334980412020Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.0
328938562020Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.5
334980412020Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.0
300304342018Direct reprogramming of fibroblasts into neural stem cells by single non-neural progenitor transcription factor Ptf1a.45
300304342018Direct reprogramming of fibroblasts into neural stem cells by single non-neural progenitor transcription factor Ptf1a.45
269370092016Loss of Ptf1a Leads to a Widespread Cell-Fate Misspecification in the Brainstem, Affecting the Development of Somatosensory and Viscerosensory Nuclei.22
272841042016Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.13
276978592016Transcriptional Maintenance of Pancreatic Acinar Identity, Differentiation, and Homeostasis by PTF1A.50
269370092016Loss of Ptf1a Leads to a Widespread Cell-Fate Misspecification in the Brainstem, Affecting the Development of Somatosensory and Viscerosensory Nuclei.22
272841042016Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.13
276978592016Transcriptional Maintenance of Pancreatic Acinar Identity, Differentiation, and Homeostasis by PTF1A.50
257759272015Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.2
261517622015The acinar differentiation determinant PTF1A inhibits initiation of pancreatic ductal adenocarcinoma.93
261844232015Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.10

Citation

Dessen P

PTF1A (pancreas associated transcription factor 1a)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/55733/gene-fusions-explorer/favicon/favicon-32x32.png