GJC2 Chromosome 1
Gap junction protein gamma 2
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What This Gene Does
This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
1q42.13
Ensembl
ENSG00000198835
Associated Conditions (13)
Spastic paraplegia
Hypomyelinating leukodystrophy 2
Hereditary spastic paraplegia
GJC2-related disorder
Inborn genetic diseases
Dystonic disorder
Intellectual disability
Lymphatic malformation 3
Hereditary spastic paraplegia 44
Spastic ataxia
Abnormality of the nervous system
See cases
Pelizaeus-Merzbacher disease
Key Variants
RS1031720654
Conflicting classifications of pathogenicity
Spastic paraplegia, Hypomyelinating leukodystrophy 2, Spastic paraplegia
Health Risk
RS1057523988
Conflicting classifications of pathogenicity
Spastic paraplegia, Hypomyelinating leukodystrophy 2, Spastic paraplegia
Health Risk
RS1196278287
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 2, Spastic paraplegia, Hypomyelinating leukodystrophy 2
Health Risk
RS1330596542
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 2, Spastic paraplegia, Hypomyelinating leukodystrophy 2
Health Risk
RS140942230
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, GJC2-related disorder
Health Risk
RS148764840
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, GJC2-related disorder
Health Risk
RS1553262546
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1571907430
Conflicting classifications of pathogenicity
Dystonic disorder, Intellectual disability, Lymphatic malformation 3
Health Risk
RS200334298
Conflicting classifications of pathogenicity
Spastic paraplegia, Hypomyelinating leukodystrophy 2, Lymphatic malformation 3
Health Risk
RS201277546
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Inborn genetic diseases
Health Risk
RS2527876961
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 2, Spastic paraplegia, Hypomyelinating leukodystrophy 2
Health Risk
RS2527877227
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
Health Risk
All Variants (73)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1031720654 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hypomyelinating leukodystrophy 2, Spastic paraplegia |
| RS1057523988 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hypomyelinating leukodystrophy 2, Spastic paraplegia |
| RS1196278287 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 2, Spastic paraplegia, Hypomyelinating leukodystrophy 2 |
| RS1330596542 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 2, Spastic paraplegia, Hypomyelinating leukodystrophy 2 |
| RS140942230 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, GJC2-related disorder |
| RS148764840 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, GJC2-related disorder |
| RS1553262546 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1571907430 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Intellectual disability, Lymphatic malformation 3 |
| RS200334298 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hypomyelinating leukodystrophy 2, Lymphatic malformation 3 |
| RS201277546 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Inborn genetic diseases |
| RS2527876961 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 2, Spastic paraplegia, Hypomyelinating leukodystrophy 2 |
| RS2527877227 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS375288744 | Health Risk | Conflicting classifications of pathogenicity | Spastic ataxia, Hypomyelinating leukodystrophy 2, Spastic paraplegia |
| RS375318012 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, GJC2-related disorder, Inborn genetic diseases |
| RS375623977 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS45491398 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS535282333 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS565574386 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS577325764 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hypomyelinating leukodystrophy 2, Spastic paraplegia |
| RS746050475 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, GJC2-related disorder, Spastic paraplegia |
| RS760502262 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS761261049 | Health Risk | Conflicting classifications of pathogenicity | Lymphatic malformation 3, Spastic paraplegia, Lymphatic malformation 3 |
| RS761544365 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hypomyelinating leukodystrophy 2, Spastic paraplegia |
| RS1057521990 | Health Risk | Likely pathogenic | — |
| RS1064793505 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS1064794912 | Health Risk | Likely pathogenic | — |
| RS1064795867 | Health Risk | Likely pathogenic | — |
| RS1302747902 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS1356633840 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS1375875748 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS1389799347 | Health Risk | Likely pathogenic | — |
| RS1553262430 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553262438 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1558119445 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1571908056 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS2034704908 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS2124966117 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS2124966280 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS2124966655 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS2124966664 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Abnormality of the nervous system, Hypomyelinating leukodystrophy 2 |
| RS2124966840 | Health Risk | Likely pathogenic | — |
| RS74315312 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS758571008 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 44, Hereditary spastic paraplegia 44 |
| RS886039904 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS1064795865 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS1211122898 | Health Risk | Pathogenic | — |
| RS1255327063 | Health Risk | Pathogenic | — |
| RS1553262429 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1571907365 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS2124966088 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |