RNU4ATAC (RNA, U4atac small nuclear)

Gene

• Entrez ID: 100151683
• Gene name: RNA, U4atac small nuclear
• Gene symbol: RNU4ATAC
• Synonyms (NCBI Gene): LWS, MOPD1, RFMN, RNU4ATAC1, TALS, U4ATAC
• Chromosome: 2
• Chromosome location: 2q14.2
• Summary: 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)

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

• MIM: 601428
• HGNC: 34016
• e!Ensembl: ENSG00000264229

Interactions View interactions

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Lowry-Wood syndrome	Likely pathogenic; Pathogenic	rs863225422, rs575472572, rs763500364, rs1032667950, rs1281131043, rs558667045	RCV002500634 RCV002490406 RCV001255663 RCV001255657 RCV001255660 RCV001255661
Osteodysplastic primordial dwarfism, type 1	Likely pathogenic; Pathogenic	rs863225422, rs575472572, rs374299350, rs763500364, rs181195449, rs180755563, rs544312701, rs779143800, rs1032667950	RCV001255778 RCV000023097 RCV000023098 RCV000023099 RCV000023100 RCV000023101 RCV000032638 RCV001255787 RCV001255768
Retinal disorder	Likely pathogenic; Pathogenic	rs374299350, rs544312701	RCV006273015 RCV006253698
RNU4ATAC spectrum disorder	Likely pathogenic; Pathogenic	rs180755563, rs1032667950	RCV004786280 RCV006249690
RNU4ATAC-related disorder	Likely pathogenic	rs982261295	RCV003396739
RNU4ATAC-related spliceosomopathies	Likely pathogenic; Pathogenic	rs863225422	RCV001095783
Roifman syndrome	Likely pathogenic; Pathogenic	rs863225422, rs575472572, rs544312701, rs1032667950, rs982261295	RCV000202314 RCV002490406 RCV002251939 RCV001003896 RCV001003897 RCV001090145

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cardiomyopathy	Conflicting classifications of pathogenicity	rs370715569	RCV002243882
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	rs370715569	RCV002243882
Microcephaly	Conflicting classifications of pathogenicity	rs370715569	RCV002243882
Neurodevelopmental delay	Conflicting classifications of pathogenicity	rs370715569	RCV002243882
Short stature	Conflicting classifications of pathogenicity	rs370715569	RCV002243882
Spondyloepiphyseal dysplasia congenita	Conflicting classifications of pathogenicity	rs370715569	RCV001775102

Associations from Text Mining
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
Hypersensitivity Delayed	Associate	40660273
Hypertensive Retinopathy	Associate	37225827
Laryngeal cleft	Associate	27312855
Laryngostenosis	Associate	27312855
Lowry Wood syndrome	Associate	29265708, 31175170, 32628740
Microcephalic osteodysplastic primordial dwarfism type 1	Associate	21474761, 21815888, 26522830, 27040866, 27312855, 27591150, 29265708, 29370840, 31175170, 32628740
Microcephaly	Associate	29370840, 32628740
Musculoskeletal Diseases	Associate	40660273
Neurologic Manifestations	Associate	29370840
Night Blindness	Associate	37225827
Osteochondrodysplasias	Associate	40660273
Retinal Dystrophies	Associate	37225827
Retinitis	Associate	37225827
Roifman syndrome	Associate	26522830, 27040866, 28623346, 29265708, 31175170, 37225827
Thakker Donnai syndrome	Associate	27040866