Gene: DCC

Alternate names for this Gene: CRC18|CRCR1|HGPPS2|IGDCC1|MRMV1|NTN1R1

Gene Summary: This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.2

Description of this Gene: DCC netrin 1 receptor

Type of Gene: protein-coding

rs1346972 in DCC 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.

rs1555682265 in DCC gene and Agenesis of corpus callosum PMID 28250456 2017 Biallelic mutations in human DCC cause developmental split-brain syndrome.

rs4384683 in DCC gene and Back Pain PMID 30261039 2018 Genome-wide meta-analysis of 158,000 individuals of European ancestry identifies three loci associated with chronic back pain.

rs11082953 in DCC gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4129322 in DCC gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

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

rs9956738 in DCC gene and Eosinophilic esophagitis PMID 25017104 2014 Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.

rs1555652216 in DCC gene and GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 PMID 28250456 2017 Biallelic mutations in human DCC cause developmental split-brain syndrome.

rs1555682265 in DCC gene and Horizontal supranuclear gaze palsy PMID 28250456 2017 Biallelic mutations in human DCC cause developmental split-brain syndrome.

rs10221412 in DCC gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs11663393 in DCC gene and Major Depressive Disorder PMID 29700475 2018 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

PMID 27089181 2016 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.

PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

rs11082960 in DCC gene and Malignant neoplasm of gallbladder PMID 22318345 2012 A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.

rs1555682265 in DCC gene and Mirror movements disorder PMID 28250456 2017 Biallelic mutations in human DCC cause developmental split-brain syndrome.

PMID 24808016 2014 Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

PMID 20431009 2010 Mutations in DCC cause congenital mirror movements.

rs11663393 in DCC gene and Mood Disorders PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs4940203 in DCC gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs1555682265 in DCC gene and Poor school performance PMID 28250456 2017 Biallelic mutations in human DCC cause developmental split-brain syndrome.

rs4940203 in DCC gene and Respiratory quotient PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs1346972 in DCC 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.

rs1431196 in DCC gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

rs1555682265 in DCC gene and Scoliosis, unspecified PMID 28250456 2017 Biallelic mutations in human DCC cause developmental split-brain syndrome.

rs1221976 in DCC gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs62100776 in DCC gene and Unipolar Depression PMID 27089181 2016 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.

rs10853628 in DCC gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30061609 2018 Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.

rs7504990 in DCC gene and gallbladder neoplasm PMID 22318345 2012 A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.

rs11872713 in DCC 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.