NCAPD3 Chromosome 11
Non-SMC condensin II complex subunit D3
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What This Gene Does
Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"Condensin II subunits|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
11q25
Ensembl
ENSG00000151503
Associated Conditions (5)
Microcephaly 22
primary
autosomal recessive
Intellectual disability
See cases
Key Variants
RS138551616
Conflicting classifications of pathogenicity
Microcephaly 22, primary, autosomal recessive
Health Risk
RS141965615
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS143833204
Conflicting classifications of pathogenicity
Microcephaly 22, primary, autosomal recessive
Health Risk
RS1164631127
Likely pathogenic
Microcephaly 22, primary, autosomal recessive
Health Risk
RS1944165127
Likely pathogenic
See cases, See cases
Health Risk
RS2497410235
Likely pathogenic
Microcephaly 22, primary, autosomal recessive
Health Risk
RS1350194762
Pathogenic
Microcephaly 22, primary, autosomal recessive
Health Risk
RS1555139372
Pathogenic
Microcephaly 22, primary, autosomal recessive
Health Risk
RS1555143325
Pathogenic
Microcephaly 22, primary, autosomal recessive
Health Risk
RS773824610
Pathogenic
Microcephaly 22, primary, autosomal recessive
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138551616 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 22, primary, autosomal recessive |
| RS141965615 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS143833204 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 22, primary, autosomal recessive |
| RS1164631127 | Health Risk | Likely pathogenic | Microcephaly 22, primary, autosomal recessive |
| RS1944165127 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2497410235 | Health Risk | Likely pathogenic | Microcephaly 22, primary, autosomal recessive |
| RS1350194762 | Health Risk | Pathogenic | Microcephaly 22, primary, autosomal recessive |
| RS1555139372 | Health Risk | Pathogenic | Microcephaly 22, primary, autosomal recessive |
| RS1555143325 | Health Risk | Pathogenic | Microcephaly 22, primary, autosomal recessive |
| RS773824610 | Health Risk | Pathogenic | Microcephaly 22, primary, autosomal recessive |