LRRC56 (leucine rich repeat containing 56)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
115399
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine rich repeat containing 56
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRRC56
Synonyms (NCBI Gene) Gene synonyms aliases
CILD39, DNAAF12, oda8
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs372959912 G>A,T Pathogenic Missense variant, stop gained, coding sequence variant
rs1564800859 G>A Pathogenic Splice donor variant
rs1564805039 T>C Pathogenic Coding sequence variant, missense variant
rs1564805053 G>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT2264277 hsa-miR-3667-3p CLIP-seq
MIRT2264278 hsa-miR-4269 CLIP-seq
MIRT2264279 hsa-miR-4645-5p CLIP-seq
MIRT2264280 hsa-miR-4673 CLIP-seq
MIRT2264281 hsa-miR-483-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30388400, 32296183, 32814053
GO:0005929 Component Cilium IEA
GO:0030030 Process Cell projection organization IEA
GO:0042995 Component Cell projection IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618227 25430 ENSG00000161328
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8IYG6
Protein name Leucine-rich repeat-containing protein 56
Protein function Required for the assembly of dynein arms.
Family and domains
Sequence 
MDLGWDRSRGPRRSTSSVRVRELSWQGLHNPCPQSKGPGSQRDRLGEQLVEEYLSPARLQ
ALARVDDLRLVRTLEMCVDTREGSLGNFGVHLPNLDQLKLNGSHLGSLRDLGTSLGHLQV
LWLARCGLADLDGIASLPALKELYASYNNISDLSPLCLLEQLEVLDLEGNSVEDLGQVRY
LQLCPRLAMLTLEGNLVCLQPAPGPTNKVPRGYNYRAEVRKLIPQLQVLDEVPAAHTGPP
APPRLSQDWLAVKEAIKKGNGLPPLDCPRGAPIRRLDPELSLPETQSRASRPWPFSLLVR
GGPLPEGLLSEDLAPEDNTSSLTHGAGQVLCGNPTKGLRERRHQCQAREPPEQLPQHRPG
DPAASTSTPEPDPADSSDFLALAGLRAWREHGVRPLPYRHPESQQEGAVAPWGPRRVPEE
QVHQAEPKTPSSPPSLASEPSGTSSQHLVPSPPKHPRPRDSGSSSPRWSTDLQSRGRRLR
VLGSWGPGLGDGVAAVPVLRALEVASRLSPRAQGCPGPKPAPDAAARPPRAAELSHPSPV
PT
Sequence length 542
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 miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ciliary Dyskinesia ciliary dyskinesia, primary, 39 rs372959912, rs1564800859, rs1564805053, rs1564805039 N/A
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Uterine Cervical Neoplasms Associate 31511581