PTPRG (protein tyrosine phosphatase, receptor type, G)

2006-12-01   Cornelis P Tensen , Remco van Doorn 

Departments of Dermatology and Medical Statistics, Leiden University Medical Center, Leiden, the Netherlands

Identity

HGNC
PTPRG
LOCATION
3p14.2
LOCUSID
5793
ALIAS
HPTPG,PTPG,R-PTP-GAMMA,RPTPG
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

The PTPRG gene is composed of 30 exons and is approximately 780 kb in size.

Transcription

The transcript length is 4338 bp. An alternatively spliced variant has been reported with a transcript length of 5655 bp.

Pseudogene

no pseudogenes have been reported.

Proteins

Description

Amino acids: 1445. Molecular weight: 162058 Daltons. The PTPRG gene belongs to the receptor class 5 subfamily of the protein-tyrosine phosphatase family.

Expression

PTPRG is expressed in several tissues.

Localisation

Membrane. Single-pass type I membrane protein.

Function

Involved in regulating signaling through ligand-controlled protein tyrosine dephosphorylation. The protein contains an extracellular carbonic anhydrase-like and fibronectin type III-like domain, a single transmembrane domain, and a cytoplasmic region with 2 tandem catalytic tyrosine phosphatase domains. Y2H, animal models.

Homology

PTPRG shares a PTP domain, involved in dephosphorylating phosphorylated tyrosine residues, with the other receptor-like protein tyrosine phosphatases. The PTPRG gene is conserved in vertebrates. The human and mouse (1442-amino acid) sequences share 95% identity at the amino acid level.

Mutations

Germinal

No germline mutations have been reported.

Somatic

8 different missense mutations in the PTPRG gene have been identified in colon carcinomas: C1082T (T361M), C1385T (A462V), C1541T (T514M), C1777T (R593W), A2864G (E955G), A2918G (Y973C), C3934T (R1312W) A3976G (I1326V).
Loss of heterozygosity (LOH) of a region which includes the PTPRG locus has been shown in clear renal cell carcinoma, lung carcinoma and colon carcinoma.

Implicated in

Note
PTPRG has been considered a potential tumor suppressor gene based on its function, antagonizing activity of protein tyrosine kinases that often function as oncoproteins. Secondly, because it maps to a region of human chromosome 3, 3p21, that is frequently deleted in renal cell carcinoma and Lung carcinoma. Thirdly, because PTPRG has been shown to harbor point mutations in a subset of colon carcinomas. Fourthly, because the PTPRG gene shows promoter hypermethylation in cutaneous T-cell lymphoma and melanoma. Finally, lower expression levels of PTPRG have been reported for a number of cancerous tissues including gastric cancer.

Bibliography

Pubmed IDLast YearTitleAuthors
167781802006Silencing of Peroxiredoxin 2 and aberrant methylation of 33 CpG islands in putative promoter regions in human malignant melanomas.Furuta J et al
17112171991Receptor protein-tyrosine phosphatase gamma is a candidate tumor suppressor gene at human chromosome region 3p21.LaForgia S et al
151559502004Mutational analysis of the tyrosine phosphatome in colorectal cancers.Wang Z et al
163380722006Protein tyrosine-phosphatase expression profiling in gastric cancer tissues.Wu CW et al
158975512005Epigenetic profiling of cutaneous T-cell lymphoma: promoter hypermethylation of multiple tumor suppressor genes including BCL7a, PTPRG, and p73.van Doorn R et al

Other Information

Locus ID:

NCBI: 5793
MIM: 176886
HGNC: 9671
Ensembl: ENSG00000144724

Variants:

dbSNP: 5793
ClinVar: 5793
TCGA: ENSG00000144724
COSMIC: PTPRG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144724ENST00000295874P23470
ENSG00000144724ENST00000474889P23470

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
158975512005Epigenetic profiling of cutaneous T-cell lymphoma: promoter hypermethylation of multiple tumor suppressor genes including BCL7a, PTPRG, and p73.57
201337742010The protein tyrosine phosphatases PTPRZ and PTPRG bind to distinct members of the contactin family of neural recognition molecules.46
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
195678912009Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.38
188295732008Functional analysis of a cell cycle-associated, tumor-suppressive gene, protein tyrosine phosphatase receptor type G, in nasopharyngeal carcinoma.21
268301382016Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.19
209594942010Protein tyrosine phosphatase receptor type {gamma} is a functional tumor suppressor gene specifically downregulated in chronic myeloid leukemia.13
146768452004Function analysis of estrogenically regulated protein tyrosine phosphatase gamma (PTPgamma) in human breast cancer cell line MCF-7.12
206513372010Function and regulatory mechanisms of the candidate tumor suppressor receptor protein tyrosine phosphatase gamma (PTPRG) in breast cancer cells.11

Citation

Cornelis P Tensen ; Remco van Doorn

PTPRG (protein tyrosine phosphatase, receptor type, G)

Atlas Genet Cytogenet Oncol Haematol. 2006-12-01

Online version: http://atlasgeneticsoncology.org/gene/41930/ptprg