DRC2
entrez
85478
canonical
uniprot
Q8IXS2
canonical
ensembl
ENSG00000139537
resolver
ensp
ENSP00000312706
resolver
genesymbol
DRC2
resolver
genesymbol_syn
CCDC65
resolver
hgnc
HGNC:29937
resolver
uniprot
A6NJG5
resolver
uniprot
B2RBE2
resolver
uniprot
B4DXQ7
resolver
uniprot
Q8N7G4
resolver
uniprot
Q8NA91
resolver
uniprot
Q96JA0
resolver
uniprot_entry
B4DXQ7_HUMAN
resolver
uniprot_entry
DRC2_HUMAN
resolver
uniprot_sec
A6NJG5
resolver
uniprot_sec
B2RBE2
resolver
uniprot_sec
Q8N7G4
resolver
uniprot_sec
Q8NA91
resolver
uniprot_sec
Q96JA0
resolver
amino_acid_sequence
MPKKEKMAKTPLSDEKQLLLFQQKLLAEEEMAKKKERLLSQFLKDKLAKEEHNSALNLNKINTQWRTVLREVKTRELHKDIEILSQTFERVVDCKDNVIKSLAKDLSEAEEQYAHALRSHLHNVDQLLALQRHRLSLLEESYNMELEALTKEFETERKTIIDQHEKEIHYLQDIFMAMEQNYIDSEYESKLEFQSMWNDLKNMNLEEKHFLRLHLENRVEDLWRKFQDVLKNYTDATEDRKAAFETLQVKDEKSSKEIEVQMKKIQKLQDAITISKGKIMIHSRESEDENRYIRNDKELVLVQLRKLKAQRTQARAASQKNLVRLTLESNATLKALRKIVDKGEKILKLAEICRKFETEEEKVLPFYSSVLTPKEQEGIQKNNLEELTEELTKVMVDYIGMENFWKRYNKVKLEQLSLQHRRAQLLDINGKLREMLKQYLDGISVSDEVLSQLNPLFIVNYQSNLLQPLSIRIAHPGDKQHPTT
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 27 (CILD27) [MIM:615504]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:24094744}. Note=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.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:A8JB22, ECO:0000269|PubMed:24094744}.
uniprot
proteins
mass_dalton
57297
uniprot
proteins
protein_family
DRC2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17089017
uniprot
proteins
pubmed
24094744
uniprot
proteins
pubmed
34169321
uniprot
proteins
sequence_length
484
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum basal body {ECO:0000250|UniProtKB:A8JB22}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:A8JB22}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:A8JB22}.
uniprot
proteins