NCAPD2 Chromosome 12
Non-SMC condensin I complex subunit D2
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What This Gene Does
Enables histone binding activity. Involved in mitotic chromosome condensation and positive regulation of chromosome condensation. Located in several cellular components, including condensed chromosome; microtubule organizing center; and nuclear lumen. Part of condensin complex. Implicated in primary autosomal recessive microcephaly 21. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Condensin I subunits|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000010292
Associated Conditions (6)
NCAPD2-related disorder
Inborn genetic diseases
Microcephaly 21
primary
autosomal recessive
Acute myeloid leukemia
Key Variants
RS139063293
Conflicting classifications of pathogenicity
NCAPD2-related disorder, Inborn genetic diseases, NCAPD2-related disorder
Health Risk
RS143795587
Conflicting classifications of pathogenicity
Health Risk
RS149296057
Conflicting classifications of pathogenicity
Microcephaly 21, primary, autosomal recessive
Health Risk
RS1555138550
Likely pathogenic
Health Risk
RS768454744
Likely pathogenic
Health Risk
RS772347389
Likely pathogenic
Microcephaly 21, primary, autosomal recessive
Health Risk
RS1486054986
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139063293 | Health Risk | Conflicting classifications of pathogenicity | NCAPD2-related disorder, Inborn genetic diseases, NCAPD2-related disorder |
| RS143795587 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149296057 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 21, primary, autosomal recessive |
| RS1555138550 | Health Risk | Likely pathogenic | — |
| RS768454744 | Health Risk | Likely pathogenic | — |
| RS772347389 | Health Risk | Likely pathogenic | Microcephaly 21, primary, autosomal recessive |
| RS1486054986 | Health Risk | Pathogenic | — |