PHTF1 (putative homeodomain transcription factor 1)

2014-11-01  

Identity

HGNC
PHTF1
LOCATION
1p13.2
LOCUSID
10745
ALIAS
PHTF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10745
MIM: 604950
HGNC: 8939
Ensembl: ENSG00000116793

Variants:

dbSNP: 10745
ClinVar: 10745
TCGA: ENSG00000116793
COSMIC: PHTF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116793ENST00000357783Q9UMS5
ENSG00000116793ENST00000369598Q5TCQ5
ENSG00000116793ENST00000369600Q5TCQ3
ENSG00000116793ENST00000369604Q9UMS5
ENSG00000116793ENST00000393357Q9UMS5
ENSG00000116793ENST00000412670H0Y825
ENSG00000116793ENST00000446739F6T5D1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

References

Pubmed IDYearTitleCitations
200891782010Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.8
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
200891782010Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.8
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
183051422008PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes.39
183051422008PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes.39

Citation

Dessen P

PHTF1 (putative homeodomain transcription factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71894/phtf1-(putative-homeodomain-transcription-factor-1)