DRC1 (dynein regulatory complex subunit 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
92749
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein regulatory complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DRC1
Synonyms (NCBI Gene) Gene synonyms aliases
C2orf39, CCDC164, CILD21, SPGF80
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs142371860 C>A,T Pathogenic, uncertain-significance, likely-pathogenic 5 prime UTR variant, coding sequence variant, missense variant, stop gained
rs146412095 G>A,T Likely-pathogenic Splice donor variant
rs587776997 A>T Pathogenic Stop gained, coding sequence variant
rs745800344 G>T Likely-pathogenic Splice acceptor variant
rs750136163 ->C Pathogenic Frameshift variant, coding sequence variant, 5 prime UTR variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(30)
GO ID Ontology Definition Evidence Reference
GO:0003352 Process Regulation of cilium movement IBA
GO:0005515 Function Protein binding IPI 34169321
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615288 24245 ENSG00000157856
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96MC2
Protein name Dynein regulatory complex protein 1 (Coiled-coil domain-containing protein 164)
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 100 → 200 Sperm tail Family
PF14775 NYD-SP28_assoc 660 → 719 Sperm tail C-terminal domain Domain
Sequence 
MNPPGSLEALDPNVDEHLSTQILAPSVHSDNSQERIQARRLRIAARLEARRREALGEYLD
GKKESEEDQSKSYKQKEESRLKLAKLLLCGTELVTNIQVAIDIREIHRRVEEEEIKRQRI
EKLENEVKTSQDKFDEITSKWEEGKQKRIPQELWEMLNTQQLHCAGLLEDKNKLISELQQ
ELKTKDDQYVKDLKKQSDDICLLLERMEEQVKNVMKTFREELYNIEKAFEVERQELLASN
KKKWEQALQAHNAKELEYLNNRMKKVEDYEKQLNRQRIWDCEEYNMIKIKLEQDVQILEQ
QLQQRKAIYQLNQEKLEYNLQVLKKRDEESTVIKSQQKRKINRLHDILNNLRSKYAKQIK
QFQEENQSLTSDYKRLVMQFKELQKAMRHFALIDDEKFWEIWLMNEEEAKDLIARAFDVD
RIIHTHHLGLPWAAPDFWFLNNVGPISQQPQKSATQIVEEMLMRSEEEEAEEAAAEPESY
LDLPKQISEKTTKRILMLLCDESGFLIESKLLSLLLPLEQNECYLLRLDAIFSALGIESE
DDLYKLVNFFLKYRAHRLSSSLQIKPCSQASMEKASMEETSTRSELELAEQTEMEGEKEE
SLVEGEKEEEEETPPSPWVIHPNDVLKILEAFVMGLKKPRDSRAPLRVQKNVRDNSKDSE
YWQALTTVIPSSKQNLWDALYTALEKYHLVLTQRAKLLLENSSLEQQNTELQALLQQYLN
SKINSELQVPPTQVLRVPTK
Sequence length 740
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ciliary dyskinesia Primary ciliary dyskinesia 21, primary ciliary dyskinesia rs750136163, rs1663812465, rs587776997, rs142371860, rs745800344, rs146412095 N/A
Spermatogenic Failure Spermatogenic failure 80 rs142371860 N/A
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35637434
Cerebral Palsy Associate 36856967
Ciliary Motility Disorders Associate 23354437, 25186273, 29467202, 31270959, 31701675, 31960620, 35637434, 36856967, 38154480
COVID 19 Associate 35955824
Diffuse panbronchiolitis Associate 31270959
Ependymoma Associate 33247464
Infertility Associate 36856967
Infertility Female Associate 36856967
Infertility Male Associate 34089056
Lung Diseases Associate 35955824