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Details on Person UniProt:Q8IXS2 DRC2
| Class:Id | ReferenceGeneProduct:222110 |
|---|---|
| _chainChangeLog | chain:1-484 added on Fri February 6 2015 |
| _displayName | UniProt:Q8IXS2 DRC2 |
| _timestamp | 2026-02-20 23:18:15 |
| chain | chain:1-484 |
| checksum | 8B3E8E676512AAF2 |
| comment | FUNCTION Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with DRC1 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:24094744).SUBUNIT Component of the nexin-dynein regulatory complex (N-DRC). Interacts with DRC1 (PubMed:34169321).SUBCELLULAR LOCATION Highly expressed in adult testis, in spermatocytes and spermatids. Also observed in spermatogonia. Not detected in Leydig cells, nor in fetal testis (at protein level).DISEASE The disease is caused by variants affecting the gene represented in this entry. Cilia ultrastructure show normal outer dynein arms, radial spokes and central pairs, but a reduction in inner dynein arms and nexin links. In 5%-15% of cilia, microtubules are disorganized. Nasal epithelial cilia reveal a stiff, dyskinetic cilia waveform.SIMILARITY Belongs to the DRC2 family.SEQUENCE CAUTION Truncated N-terminus. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="7"Dynein regulatory complex subunit 2 alternativeName: Coiled-coil domain-containing protein 65 alternativeName: Testis development protein NYD-SP28 |
| geneName | DRC2 CCDC65 |
| identifier | Q8IXS2 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cell projection Ciliopathy Cilium Coiled coil Cytoplasm Cytoskeleton Flagellum Kartagener syndrome Primary ciliary dyskinesia Proteomics identification Reference proteome |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | DRC2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8992933] ENSEMBL:ENSG00000139537 DRC2 [Homo sapiens] |
| secondaryIdentifier | DRC2_HUMAN A6NJG5 B2RBE2 Q8N7G4 Q8NA91 Q96JA0 |
| sequenceLength | 484 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:222111] UniProt:Q8IXS2-2 DRC2 [Homo sapiens] [ReferenceIsoform:410899] UniProt:Q8IXS2-1 DRC2 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:9963021] CCDC65 [cilium] [Homo sapiens] [EntityWithAccessionedSequence:9969332] CCDC65 [cytosol] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q8IXS2 DRC2 (222110)
