DYNC1I2 dynein cytoplasmic 1 intermediate chain 2
Gene ID: 1781, updated on 3-Nov-2024Gene type: protein coding
Also known as: IC2; DIC74; DNCI2; NEDMIBA
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- Go to complete Gene record for DYNC1I2
- Go to Variation Viewer for DYNC1I2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Neurodevelopmental disorder with microcephaly and structural brain anomalies | not available |
Genomic context
- Location:
- 2q31.1
- Sequence:
- Chromosome: 2; NC_000002.12 (171687469..171750158)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DYNC1I2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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