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 |
|---|---|---|---|
| RS2124966375 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS2124966792 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2124967068 | Health Risk | Pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 44, Spastic paraplegia |
| RS2527857747 | Health Risk | Pathogenic | Spastic paraplegia, Lymphatic malformation 3, Spastic paraplegia |
| RS2527875152 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2527875494 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2527875902 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS267606846 | Health Risk | Pathogenic | Lymphatic malformation 3, Lymphatic malformation 3 |
| RS267606847 | Health Risk | Pathogenic | Lymphatic malformation 3, Lymphatic malformation 3 |
| RS397514734 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS74315311 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, See cases, Hypomyelinating leukodystrophy 2 |
| RS74315313 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS74315314 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS75469429 | Health Risk | Pathogenic | Hereditary spastic paraplegia 44, Hereditary spastic paraplegia 44 |
| RS796065027 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS796065028 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS796065029 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS1085307499 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the nervous system, Hypomyelinating leukodystrophy 2, Spastic paraplegia |
| RS1455411788 | Health Risk | Pathogenic/Likely pathogenic | Pelizaeus-Merzbacher disease, Spastic paraplegia, Pelizaeus-Merzbacher disease |
| RS1571908452 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hypomyelinating leukodystrophy 2, Hereditary spastic paraplegia 44 |
| RS587776888 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 2, Spastic paraplegia, Hereditary spastic paraplegia 44 |
| RS587777496 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 2, Spastic paraplegia, Hypomyelinating leukodystrophy 2 |
| RS878853083 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |