CCDC65 - coiled-coil domain containing 65 Gene
Also Known as DRC2; FAP250; CFAP250; NYD-SP28
Species: Homo sapiens (human)
Summary
This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
CCDC65 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001286957.2 | NP_001273886.1 | dynein regulatory complex subunit 2 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
34169321 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cilium assembly |
IMP
IMP: Inferred from mutant phenotype
|
24094744 | GOA |
| involved in regulation of cilium movement |
IMP
IMP: Inferred from mutant phenotype
|
24094744 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in ciliary basal body |
IDA
IDA: Inferred from direct assay
|
29257953 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dynein regulatory complex subunit 2 |
|