RNU4ATAC (RNA, U4atac small nuclear)

Gene
Gene Gene ontology Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100151683
Gene name Gene Name - the full gene name approved by the HGNC.
RNA, U4atac small nuclear
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNU4ATAC
Synonyms (NCBI Gene) Gene synonyms aliases
LWS, MOPD1, RFMN, RNU4ATAC1, TALS, U4ATAC
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.2
Summary Summary of gene provided in NCBI Entrez Gene.
The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on ap
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0000244 Process Spliceosomal tri-snRNP complex assembly IEA
GO:0000395 Process MRNA 5'-splice site recognition IEA
GO:0005690 Component U4atac snRNP IEA
GO:0030624 Function U6atac snRNA binding IEA
GO:0030627 Function Pre-mRNA 5'-splice site binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Associated diseases
MIM HGNC e!Ensembl
601428 34016 ENSG00000264229
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs 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
Lowry Wood Syndrome lowry-wood syndrome rs763500364, rs863225422, rs1032667950 N/A
Show/Hide Unknown Diseases (2)
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
Dwarfism microcephalic osteodysplastic primordial dwarfism type I N/A N/A GenCC
Spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia congenita N/A N/A ClinVar
Show/Hide Text Mining Associations (25)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Central Nervous System Vascular Malformations Associate 21474761
Cone Rod Dystrophies Associate 37225827
Depression Postpartum Associate 21474761
Disease Associate 32628740
Dwarfism Associate 29370840
Dwarfism Pituitary Associate 40660273
Fetal Growth Retardation Associate 27040866
Genetic Diseases Inborn Associate 26522830, 29370840, 31175170
Growth Disorders Associate 40660273
HEM dysplasia Associate 40660273