SMC3 Chromosome 10
Structural maintenance of chromosomes 3
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What This Gene Does
This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Proteoglycans|Structural maintenance of chromosomes proteins|Cohesin complex"
Locus Type
gene with protein product
Location
10q25.2
Ensembl
ENSG00000108055
Associated Conditions (8)
Cornelia de Lange syndrome 3
Inborn genetic diseases
SMC3-related disorder
Intellectual disability
De Lange syndrome
Cornelia de Lange syndrome 1
See cases
Wiedemann-Steiner syndrome
Key Variants
RS112525060
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Inborn genetic diseases, SMC3-related disorder
Health Risk
RS1193209124
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
Health Risk
RS1412736656
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cornelia de Lange syndrome 3, Inborn genetic diseases
Health Risk
RS142524280
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Inborn genetic diseases, SMC3-related disorder
Health Risk
RS142669130
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
Health Risk
RS146433240
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147463420
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Inborn genetic diseases, Cornelia de Lange syndrome 3
Health Risk
RS1554882266
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
Health Risk
RS1554884207
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
Health Risk
RS1564796294
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
Health Risk
RS182445355
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Inborn genetic diseases, Cornelia de Lange syndrome 3
Health Risk
RS1861395935
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
Health Risk
All Variants (97)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2134745289 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2134750930 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2134754195 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493107869 | Health Risk | Likely pathogenic | — |
| RS2493111001 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493111036 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493117603 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493126411 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493126445 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493127561 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2493128583 | Health Risk | Likely pathogenic | SMC3-related disorder, SMC3-related disorder |
| RS2493138145 | Health Risk | Likely pathogenic | — |
| RS2493143956 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493144025 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493146503 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493149927 | Health Risk | Likely pathogenic | — |
| RS2493152435 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS587784425 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS587784427 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS587784429 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS748876063 | Health Risk | Likely pathogenic | De Lange syndrome, Inborn genetic diseases, De Lange syndrome |
| RS776056911 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS797045997 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS869312672 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 3, De Lange syndrome, Cornelia de Lange syndrome 3 |
| RS1064793598 | Health Risk | Pathogenic | — |
| RS1564789897 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS1590556722 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS1861074646 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS1861409519 | Health Risk | Pathogenic | Inborn genetic diseases, Cornelia de Lange syndrome 3, Inborn genetic diseases |
| RS2134724901 | Health Risk | Pathogenic | — |
| RS2134745322 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493114413 | Health Risk | Pathogenic | SMC3-related disorder, SMC3-related disorder |
| RS2493131897 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493145293 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS2493149914 | Health Risk | Pathogenic | — |
| RS727503775 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Wiedemann-Steiner syndrome, Cornelia de Lange syndrome 3 |
| RS774545380 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS779885552 | Health Risk | Pathogenic | — |
| RS797044861 | Health Risk | Pathogenic | Inborn genetic diseases, Cornelia de Lange syndrome 3, Inborn genetic diseases |
| RS863223279 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS863225258 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS863225259 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS863225260 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS863225261 | Health Risk | Pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS1564792181 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS797045070 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS886041239 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Cornelia de Lange syndrome 3, Intellectual disability |