Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26150
Gene name Gene Name - the full gene name approved by the HGNC.
RIB43A domain with coiled-coils 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RIBC2
Synonyms (NCBI Gene) Gene synonyms aliases
C22orf11, TRIB
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.31
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022538 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22458338, 28514442, 33961781
GO:0005634 Component Nucleus HDA 21630459
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005879 Component Axonemal microtubule IDA 36191189
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
621115 13241 ENSG00000128408
Protein
UniProt ID Q9H4K1
Protein name RIB43A-like with coiled-coils protein 2
Protein function Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.
PDB 7UNG , 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05914 RIB43A 1 309 RIB43A Family
Tissue specificity TISSUE SPECIFICITY: Expressed in airway epithelial cells. {ECO:0000269|PubMed:36191189}.
Sequence
Sequence length 382
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)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dental caries Dental caries N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 32329860
Carcinogenesis Associate 32329860, 38254916
Carcinoma Hepatocellular Associate 36714595
Carcinoma Renal Cell Associate 32329860
Colitis Ulcerative Associate 27517910
Hypertriglyceridemia Associate 36077235
Neoplasms Associate 32329860
Ovarian Diseases Associate 32329860
Uterine Cervical Neoplasms Associate 34530829, 34674573