DYNC1I2 Chromosome 2
Dynein cytoplasmic 1 intermediate chain 2
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What This Gene Does
This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
"WD repeat domain containing|Dynein 1 complex subunits"
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000077380
Associated Conditions (4)
Neurodevelopmental disorder with microcephaly and structural brain anomalies
Neurodevelopmental disorder with microcephaly
hypotonia
and variable brain anomalies
Key Variants
RS2105689812
Likely pathogenic
Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly and structural brain anomalies
Health Risk
RS1574594051
Pathogenic
Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly and structural brain anomalies
Health Risk
RS1574596084
Pathogenic
Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly, hypotonia
Health Risk
RS540814246
Pathogenic
Health Risk
RS752940799
Pathogenic
Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly, hypotonia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2105689812 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly and structural brain anomalies |
| RS1574594051 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly and structural brain anomalies |
| RS1574596084 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly, hypotonia |
| RS540814246 | Health Risk | Pathogenic | — |
| RS752940799 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly, hypotonia |