DCC Chromosome 18
DCC netrin 1 receptor
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What This Gene Does
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. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
18q21.2
Ensembl
ENSG00000187323
Associated Conditions (17)
Mirror movements 1
Amenorrhea
Gaze palsy
familial horizontal
with progressive scoliosis
2
DCC-related disorder
Partial agenesis of the corpus callosum
Autism spectrum disorder
Corpus callosum
agenesis of
Inborn genetic diseases
Esophageal carcinoma
somatic
Colorectal cancer
Mirror movements 1 and/or agenesis of the corpus callosum
Carcinoma of colon
Key Variants
RS140711456
Conflicting classifications of pathogenicity
Health Risk
RS141813053
Conflicting classifications of pathogenicity
Mirror movements 1, Amenorrhea, Mirror movements 1
Health Risk
RS144623089
Conflicting classifications of pathogenicity
Gaze palsy, familial horizontal, with progressive scoliosis
Health Risk
RS35691189
Conflicting classifications of pathogenicity
Mirror movements 1, DCC-related disorder, Mirror movements 1
Health Risk
RS1085307773
Likely pathogenic
Health Risk
RS1406742141
Likely pathogenic
DCC-related disorder, DCC-related disorder
Health Risk
RS141228869
Likely pathogenic
Mirror movements 1, Mirror movements 1
Health Risk
RS1568364038
Likely pathogenic
Health Risk
RS1909920586
Likely pathogenic
Mirror movements 1, Mirror movements 1
Health Risk
RS2144215711
Likely pathogenic
Partial agenesis of the corpus callosum, Partial agenesis of the corpus callosum
Health Risk
RS2145054624
Likely pathogenic
Health Risk
RS2511369243
Likely pathogenic
Mirror movements 1, Mirror movements 1
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140711456 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141813053 | Health Risk | Conflicting classifications of pathogenicity | Mirror movements 1, Amenorrhea, Mirror movements 1 |
| RS144623089 | Health Risk | Conflicting classifications of pathogenicity | Gaze palsy, familial horizontal, with progressive scoliosis |
| RS35691189 | Health Risk | Conflicting classifications of pathogenicity | Mirror movements 1, DCC-related disorder, Mirror movements 1 |
| RS1085307773 | Health Risk | Likely pathogenic | — |
| RS1406742141 | Health Risk | Likely pathogenic | DCC-related disorder, DCC-related disorder |
| RS141228869 | Health Risk | Likely pathogenic | Mirror movements 1, Mirror movements 1 |
| RS1568364038 | Health Risk | Likely pathogenic | — |
| RS1909920586 | Health Risk | Likely pathogenic | Mirror movements 1, Mirror movements 1 |
| RS2144215711 | Health Risk | Likely pathogenic | Partial agenesis of the corpus callosum, Partial agenesis of the corpus callosum |
| RS2145054624 | Health Risk | Likely pathogenic | — |
| RS2511369243 | Health Risk | Likely pathogenic | Mirror movements 1, Mirror movements 1 |
| RS2511378972 | Health Risk | Likely pathogenic | DCC-related disorder, DCC-related disorder |
| RS2511410848 | Health Risk | Likely pathogenic | Mirror movements 1, Mirror movements 1 |
| RS2511454945 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2511456928 | Health Risk | Likely pathogenic | Mirror movements 1, Mirror movements 1 |
| RS2511644864 | Health Risk | Likely pathogenic | Mirror movements 1, Mirror movements 1 |
| RS2511800370 | Health Risk | Likely pathogenic | DCC-related disorder, DCC-related disorder |
| RS1057519053 | Health Risk | Pathogenic | Corpus callosum, agenesis of, Mirror movements 1 |
| RS1057519054 | Health Risk | Pathogenic | Corpus callosum, agenesis of, Mirror movements 1 |
| RS1057519055 | Health Risk | Pathogenic | Corpus callosum, agenesis of, Mirror movements 1 |
| RS1057519056 | Health Risk | Pathogenic | Corpus callosum, agenesis of, Corpus callosum |
| RS1057519057 | Health Risk | Pathogenic | Corpus callosum, agenesis of, Corpus callosum |
| RS1180126622 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS121912967 | Health Risk | Pathogenic | Esophageal carcinoma, somatic, Esophageal carcinoma |
| RS1555682265 | Health Risk | Pathogenic | Gaze palsy, familial horizontal, with progressive scoliosis |
| RS1555732204 | Health Risk | Pathogenic | — |
| RS1909920019 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2040184914 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |
| RS2045395357 | Health Risk | Pathogenic | — |
| RS2055152944 | Health Risk | Pathogenic | — |
| RS2057418362 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2145024323 | Health Risk | Pathogenic | Mirror movements 1, Mirror movements 1 |
| RS2511369220 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2511450998 | Health Risk | Pathogenic | — |
| RS2511451201 | Health Risk | Pathogenic | Mirror movements 1, Mirror movements 1 |
| RS2511470526 | Health Risk | Pathogenic | — |
| RS2511644683 | Health Risk | Pathogenic | Mirror movements 1, Mirror movements 1 |
| RS2511800544 | Health Risk | Pathogenic | Mirror movements 1 and/or agenesis of the corpus callosum, Mirror movements 1 and/or agenesis of the corpus callosum |
| RS387906555 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS754914260 | Health Risk | Pathogenic | Mirror movements 1, Corpus callosum, agenesis of |
| RS764481922 | Health Risk | Pathogenic | Mirror movements 1, Mirror movements 1 |
| RS771557879 | Health Risk | Pathogenic | — |
| RS797044552 | Health Risk | Pathogenic | Mirror movements 1, Mirror movements 1 |
| RS797044553 | Health Risk | Pathogenic | Mirror movements 1, Mirror movements 1 |
| RS797044556 | Health Risk | Pathogenic | Mirror movements 1, Mirror movements 1 |
| RS2039877071 | Health Risk | Pathogenic/Likely pathogenic | — |