Gene: PTPRD

Alternate names for this Gene: HPTP|HPTPD|HPTPDELTA|PTPD|R-PTP-delta|RPTPDELTA

Gene Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5.

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.1-p23

Description of this Gene: protein tyrosine phosphatase receptor type D

Type of Gene: protein-coding

rs2784598 in PTPRD gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs10119582 in PTPRD gene and Age at menarche PMID 29773799 2018 Elucidating the genetic architecture of reproductive ageing in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

rs10815925 in PTPRD gene and Arthritis, Gouty PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs139271658 in PTPRD gene and Aspartate aminotransferase measurement PMID 31311600 2019 GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.

rs1323489 in PTPRD gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs76007978 in PTPRD gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs184140292 in PTPRD gene and Cardiac troponin T measurement PMID 31014085 2019 Cardiac Troponin T and Troponin I in the General Population.

rs143575776 in PTPRD gene and Chemical and Drug Induced Liver Injury PMID 28043905 2017 Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study.

rs1331660 in PTPRD gene and Corneal Topography PMID 22003120 2011 Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

rs17584499 in PTPRD gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 21647700 2011 Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.

PMID 20174558 2010 A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.

PMID 23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

rs35287509 in PTPRD gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs1923357 in PTPRD gene and Endometrial Carcinoma PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.

rs72700966 in PTPRD gene and Epilepsy PMID 23962720 2014 A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.

rs17650729 in PTPRD gene and Fatty acid measurement PMID 29738550 2018 Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium.

rs147345944 in PTPRD gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs12003835 in PTPRD gene and Glycine measurement PMID 31070104 2019 Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.

rs10815925 in PTPRD gene and Gout PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs2039332 in PTPRD gene and Intracranial Aneurysm PMID 29531279 2018 Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population.

rs1535459 in PTPRD gene and Ischemic stroke PMID 26674333 2016 Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.

rs10118330 in PTPRD gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs1322281 in PTPRD gene and Major Depressive Disorder PMID 27622933 2016 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response.

rs1934268 in PTPRD gene and Modic type vertebral endplate changes PMID 30808802 2019 Genome-wide meta-analysis identifies genetic locus on chromosome 9 associated with Modic changes.

rs1322281 in PTPRD gene and Mood Disorders PMID 27622933 2016 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response.

rs7849581 in PTPRD gene and Myopia, Degenerative PMID 23049088 2012 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.

rs201899638 in PTPRD gene and Nephrotic Syndrome PMID 31263063 2019 Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

rs139271658 in PTPRD gene and Non-alcoholic Fatty Liver Disease PMID 31311600 2019 GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.

rs10978121 in PTPRD gene and Non-obstructive azoospermia PMID 22197933 2011 A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.

rs58823963 in PTPRD gene and Pelvic Organ Prolapse PMID 26545240 2015 Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative.

rs10759102 in PTPRD gene and Respiratory Function Tests PMID 22837378 2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.

rs1836229 in PTPRD gene and Restless Legs Syndrome PMID 29029846 2017 Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

PMID 21779176 2011 Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

PMID 18660810 2008 PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.

rs2784598 in PTPRD gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs10120450 in PTPRD gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs10958852 in PTPRD gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs10958852 in PTPRD gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs1332813 in PTPRD gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs620558 in PTPRD gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

rs147345944 in PTPRD gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.