PTPRN (protein tyrosine phosphatase receptor type N)

2003-11-01  

Identity

HGNC
PTPRN
LOCATION
2q35
LOCUSID
5798
ALIAS
IA-2,IA-2/PTP,IA2,ICA512,R-PTP-N
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5798
MIM: 601773
HGNC: 9676
Ensembl: ENSG00000054356

Variants:

dbSNP: 5798
ClinVar: 5798
TCGA: ENSG00000054356
COSMIC: PTPRN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000054356ENST00000295718Q16849
ENSG00000054356ENST00000409251Q16849
ENSG00000054356ENST00000412847A0A1B0GX26
ENSG00000054356ENST00000423636Q16849
ENSG00000054356ENST00000440552C9JR27
ENSG00000054356ENST00000442029C9JCQ0
ENSG00000054356ENST00000443981H7C0U9
ENSG00000054356ENST00000446182C9JJL7
ENSG00000054356ENST00000451506C9J392
ENSG00000054356ENST00000606213U3KQ66

Expression (GTEx)

0
50
100
150
200
250
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
Type I diabetes mellitusKEGGko04940
Type I diabetes mellitusKEGGhsa04940

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
hypothalamus
thyroid gland
parathyroid gland
adrenal gland
pituitary gland
nasopharynx
bronchus
lung
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
183730802008Diabetes Antibody Standardization Program: evaluation of assays for autoantibodies to glutamic acid decarboxylase and islet antigen-2.70
155965452004Nuclear translocation of an ICA512 cytosolic fragment couples granule exocytosis and insulin expression in {beta}-cells.29
159398932005The dense core transmembrane vesicle protein IA-2 is a regulator of vesicle number and insulin secretion.27
215770132011Progression-free survival in ovarian cancer is reflected in epigenetic DNA methylation profiles.25
200836602010Evidence for molecular mimicry between human T cell epitopes in rotavirus and pancreatic islet autoantigens.23
210736642011Prediction and prevention of Type 1 diabetes mellitus.21
185351952008A new luminescence assay for autoantibodies to mammalian cell-prepared insulinoma-associated protein 2.18
185045442008Autoantibodies to islet antigen-2 are associated with HLA-DRB1*07 and DRB1*09 haplotypes as well as DRB1*04 at onset of type 1 diabetes: the possible role of HLA-DQA in autoimmunity to IA-2.16
201937552010Elevated expression of MCP-1, IL-2 and PTPR-N in basal ganglia of Tourette syndrome cases.16
200357582010Triple chimeric islet autoantigen IA2-ZnT8WR to facilitate islet autoantibody determination.10

Citation

Dessen P

PTPRN (protein tyrosine phosphatase receptor type N)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41935/ptprn