LRRC56 (leucine rich repeat containing 56)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 115399
Gene name Leucine rich repeat containing 56
Gene symbol LRRC56
Synonyms (NCBI Gene)
CILD39DNAAF12oda8
Chromosome 11
Chromosome location 11p15.5
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
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.
5
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618227 25430 ENSG00000161328
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.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
97
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ciliary dyskinesia, primary, 39 Likely pathogenic; Pathogenic rs2539848777, rs1564805053, rs1564805039, rs372959912, rs1564800859 RCV003147798
RCV000735803
RCV000735804
RCV000735805
RCV000735806
Kartagener syndrome Likely pathogenic; Pathogenic rs1421592107 RCV006252826
LRRC56-related disorder Pathogenic rs138918564 RCV004752107
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs144525570 RCV005928283
Cervical cancer Benign rs114689581 RCV005922239
Familial cancer of breast Benign rs144525570 RCV005928282
Ovarian serous cystadenocarcinoma Benign; Likely benign rs189029432 RCV005925871
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Uterine Cervical Neoplasms Associate 31511581