RNU4ATAC (RNA, U4atac small nuclear)

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Gene Gene ontology Other IDs Associated diseases Related genes Diseases linked via similar genes

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal Show/Hide Causal Diseases (7)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Lowry-Wood syndrome	Likely pathogenic; Pathogenic	rs863225422, rs575472572, rs763500364, rs1032667950, rs1281131043, rs558667045	RCV002500634 RCV002490406 RCV001255663 RCV001255657 RCV001255660 RCV001255661	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs374299350, rs544312701	RCV006273015 RCV006253698	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RNU4ATAC spectrum disorder	Likely pathogenic; Pathogenic	rs180755563, rs1032667950	RCV004786280 RCV006249690	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RNU4ATAC-related disorder	Likely pathogenic	rs982261295	RCV003396739	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RNU4ATAC-related spliceosomopathies	Likely pathogenic; Pathogenic	rs863225422	RCV001095783	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Roifman syndrome	Likely pathogenic; Pathogenic	rs863225422, rs575472572, rs544312701, rs1032667950, rs982261295	RCV000202314 RCV002490406 RCV002251939 RCV001003896 RCV001003897 RCV001090145	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal dysplasia congenita	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (93)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	28623346		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	21474761	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	21474760, 21474761, 24865609		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	29370840		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	Pubtator	29370840	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	40660273	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture-shoulder	Shoulder flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	40660273	Associate	★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	40660273	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	20857301		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lowry Wood syndrome	Lowry Wood Syndrome	BEFREE	29265708, 30368667, 31175170		★☆☆☆☆ Found in Text Mining only
Lowry Wood syndrome	Lowry Wood Syndrome	ORPHANET_DG	29265708		★☆☆☆☆ Found in Text Mining only
Lowry-Wood syndrome	Lowry Wood Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephalic osteodysplastic primordial dwarfism types I and III	Microcephalic Osteodysplastic Primordial Dwarfism	ORPHANET_DG	21815888, 23794361		★☆☆☆☆ Found in Text Mining only
Microcephalic osteodysplastic primordial dwarfism types I and III	Microcephalic Osteodysplastic Primordial Dwarfism	Orphanet			★☆☆☆☆ Found in Text Mining only
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I	Microcephalic osteodysplastic primordial dwarfism	BEFREE	21474760, 21474761, 21990275, 22581640, 23794361, 24865609, 26522830, 27591150, 29265708, 29370840, 31470809		★☆☆☆☆ Found in Text Mining only
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I	Microcephalic osteodysplastic primordial dwarfism	GENOMICS_ENGLAND_DG	21474760, 22786707		★☆☆☆☆ Found in Text Mining only
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I	Microcephalic osteodysplastic primordial dwarfism	CTD_human_DG	26522830		★☆☆☆☆ Found in Text Mining only
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I	Microcephalic osteodysplastic primordial dwarfism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	12571786, 29370840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	29370840, 32628740	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	BEFREE	12571786		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	40660273	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	BEFREE	27346851		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28199913		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Roifman syndrome	Roifman Syndrome	BEFREE	26522830, 29265708, 29391254, 30368667		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Roifman syndrome	Roifman Syndrome	CTD_human_DG	26522830		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Roifman syndrome	Roifman Syndrome	ORPHANET_DG	26522830		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Roifman syndrome	Roifman syndrome	Pubtator	26522830, 27040866, 28623346, 29265708, 31175170, 37225827	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Roifman syndrome	Roifman Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Roifman syndrome	Roifman Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Roifman syndrome	Roifman Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	21098506		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for RNU4ATAC.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to RNU4ATAC.