RNA, U4ATAC Small Nuclear

Alternative Names

RNU4ATAC
RNA, U4, Small Nuclear, AT-AC Form
U4ATAC

Length

130 bases

No. of Exons

Genomic Location

chr2:121,530,879-121,531,008

Gene Map Locus

2q14.2

Description

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 approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NR_023343.1:n.116A>T	Saudi Arabia	NC_000002.12:g.121530995A>T	Likely Pathogenic	Pathogenic	Lowry-Wood Syndrome	NG_029832.1:g.5116A>T; NR_023343.1:n.116A>T	982261295	812960
NR_023343.1:n.13C>T	Saudi Arabia	NC_000002.12:g.121530892C>T	Pathogenic	Uncertain Significance	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	NR_023343.1:n.13C>T	559979281	218083
NR_023343.1:n.16G>A	Lebanon	NC_000002.12:g.121530895G>A	Pathogenic	Pathogenic	Roifman Syndrome	NG_029832.1:g.5016G>A; NR_023343.1:n.16G>A	750325275	218082
NR_023343.1:n.46G>A	Saudi Arabia	NC_000002.12:g.121530925G>A	Likely Pathogenic, Pathogenic	Uncertain Significance	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	NR_023343.1:n.46G>A	1032667950	636959
NR_023343.1:n.51G>A	Lebanon	NC_000002.12:g.121530930G>A	Pathogenic	Pathogenic	Roifman Syndrome	NG_029832.1:g.5051G>A; NR_023343.1:n.51G>A	188343279	30178
NR_023343.1:n.55G>A	Saudi Arabia	NC_000002.12:g.121530934G>A	Pathogenic	Pathogenic	Lowry-Wood Syndrome	NG_029832.1:g.5055G>A; NR_023343.1:n.55G>A		30179

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=rnu4atac

Contributors

Asha Deepthi: 14.02.2022
Pratibha Nair: 11.01.2021

Edit History

Asha Deepthi: 14.02.2022
Sayeeda Hana: 15.12.2021
Pratibha Nair: 11.01.2021

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