DRC2 (dynein regulatory complex subunit 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 85478
Gene name Dynein regulatory complex subunit 2
Gene symbol DRC2
Synonyms (NCBI Gene)
CCDC65CFAP250FAP250NYD-SP28
Chromosome 12
Chromosome location 12q13.12
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs776979382 G>T Pathogenic Stop gained, coding sequence variant
rs863223325 AT>- Pathogenic, likely-pathogenic Frameshift variant, coding sequence variant
rs1003676784 C>A,T Pathogenic Synonymous variant, coding sequence variant, stop gained
rs1555174708 A>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
73
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (73)
miRTarBase ID miRNA Experiments Reference
MIRT025751 hsa-miR-7-5p Microarray 17612493
MIRT620243 hsa-miR-548c-3p HITS-CLIP 23824327
MIRT620242 hsa-miR-216b-5p HITS-CLIP 23824327
MIRT620241 hsa-miR-4433b-3p HITS-CLIP 23824327
MIRT620240 hsa-miR-3675-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0003352 Process Regulation of cilium movement IBA
GO:0003352 Process Regulation of cilium movement IMP 24094744
GO:0005515 Function Protein binding IPI 34169321
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611088 29937 ENSG00000139537
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IXS2
Protein name Dynein regulatory complex subunit 2 (Coiled-coil domain-containing protein 65) (Testis development protein NYD-SP28)
Protein 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
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14772 NYD-SP28 24 → 124 Sperm tail Family
Tissue specificity TISSUE SPECIFICITY: 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). {ECO:0000269|PubMed:17089017}.
Sequence 
MPKKEKMAKTPLSDEKQLLLFQQKLLAEEEMAKKKERLLSQFLKDKLAKEEHNSALNLNK
INTQWRTVLREVKTRELHKDIEILSQTFERVVDCKDNVIKSLAKDLSEAEEQYAHALRSH
LHNVDQLLALQRHRLSLLEESYNMELEALTKEFETERKTIIDQHEKEIHYLQDIFMAMEQ
NYIDSEYESKLEFQSMWNDLKNMNLEEKHFLRLHLENRVEDLWRKFQDVLKNYTDATEDR
KAAFETLQVKDEKSSKEIEVQMKKIQKLQDAITISKGKIMIHSRESEDENRYIRNDKELV
LVQLRKLKAQRTQARAASQKNLVRLTLESNATLKALRKIVDKGEKILKLAEICRKFETEE
EKVLPFYSSVLTPKEQEGIQKNNLEELTEELTKVMVDYIGMENFWKRYNKVKLEQLSLQH
RRAQLLDINGKLREMLKQYLDGISVSDEVLSQLNPLFIVNYQSNLLQPLSIRIAHPGDKQ
HPTT
Sequence length 484
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
155
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Primary ciliary dyskinesia Likely pathogenic; Pathogenic rs863223325 RCV000215832
Primary ciliary dyskinesia 27 Pathogenic; Likely pathogenic rs948326397, rs2498836177, rs2498844405, rs1434632385, rs1592227238, rs2498822931, rs749714265, rs1555174708, rs776979382, rs863223325 RCV003090831
RCV002583845
RCV002701372
RCV002922527
RCV002919114
RCV003741832
RCV003741050
RCV000548235
RCV000804840
RCV000074368
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CCDC65-related disorder Likely benign; Benign rs990451120, rs143009264, rs2498836038, rs118060953, rs139325778 RCV003973308
RCV003941970
RCV003943835
RCV004758706
RCV003955587
Lung cancer Likely benign rs201665288 RCV005921180