PHTF1 (putative homeodomain transcription factor 1)

2014-11-01 Affiliation

Identity

HGNC

PHTF1

LOCATION

1p13.2

LOCUSID

10745

ALIAS

PHTF

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000116793	ENST00000357783	Q9UMS5
ENSG00000116793	ENST00000369598	Q5TCQ5
ENSG00000116793	ENST00000369600	Q5TCQ3
ENSG00000116793	ENST00000369604	Q9UMS5
ENSG00000116793	ENST00000393357	Q9UMS5
ENSG00000116793	ENST00000412670	H0Y825
ENSG00000116793	ENST00000446739	F6T5D1

Expression (GTEx)

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 ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18305142	2008	PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes.	35
20089178	2010	Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.	5

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