Nuclear Receptor Subfamily 2, Group E, Member 3

Alternative Names

NR2E3
Photoreceptor-Specific Nuclear Receptor
PNR

Length

26,029 bases

No. of Exons

No. of isoforms

Protein Name

Photoreceptor-specific nuclear receptor

Molecular Mass

44692 Da

Amino Acid Count

410

Genomic Location

chr15:71,810,553-71,818,252

Gene Map Locus

15q23

Description

The NR2E3 gene encodes a retinal nuclear receptor that belongs to a large family of nuclear receptor transcription factors involved in signaling pathways for photoreceptors. NR2E3 localization is limited to the outer nuclear layer of the human retina, and it is involved in retinal cell fate determination. NR2E3 behaves intracellularly as a ligand-dependent transcription factor with discrete domains that function in DNA and ligand binding. The NR2E3 gene is 410 amino acids long and has two alternatively spliced isoforms.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_014249.4:c.119-2A>C	Palestine; Saudi Arabi...	NC_000015.10:g.71811481A>C	Likely Pathogenic, Pathogenic	Likely Pathogenic, Pathogenic	Enhanced S-Cone Syndrome	NG_009113.2:g.5927A>C; NM_014249.4:c.119-2A>C; NP_055064.1:p.?	2723341	191059
NM_014249.4:c.131C>A	Saudi Arabia	NC_000015.10:g.71811495C>A	Pathogenic	Pathogenic		NG_009113.2:g.5941C>A; NM_014249.4:c.131C>A; NP_055064.1:p.Ser44Ter	202098481	1456422
NM_014249.4:c.373C>T	Saudi Arabia	NC_000015.10:g.71811978C>T	Likely Pathogenic, Pathogenic	Pathogenic		NG_009113.2:g.6424C>T; NM_014249.4:c.373C>T; NP_055064.1:p.Arg125Ter	786205493	191060
NM_014249.4:c.646G>A	Saudi Arabia	NC_000015.10:g.71812410G>A	Likely Pathogenic, Uncertain Significance	Likely Pathogenic	Enhanced S-Cone Syndrome	NG_009113.2:g.6856G>A; NM_014249.4:c.646G>A; NP_055064.1:p.Gly216Ser	368098126	191061
NM_014249.4:c.926G>T	Saudi Arabia	NC_000015.10:g.71813567G>T	Likely Pathogenic	Pathogenic	Enhanced S-Cone Syndrome	NG_009113.2:g.8013G>T; NM_014249.4:c.926G>T; NP_055064.1:p.Arg309Leu	761628767	191062
NM_014249.4:c.931C>T	Saudi Arabia	NC_000015.10:g.71813572C>T	Likely Pathogenic, Uncertain Significance	Pathogenic	Enhanced S-Cone Syndrome	NG_009113.2:g.8018C>T; NM_014249.4:c.931C>T; NP_055064.1:p.Arg311Trp	767442358	422071
NM_014249.4:c.932G>A	Morocco; Palestine; Sa...	NC_000015.10:g.71813573G>A	Likely Pathogenic, Pathogenic	Likely Pathogenic, Pathogenic	Enhanced S-Cone Syndrome; Retinitis Pigmentosa 37	NG_009113.2:g.8019G>A; NM_014249.4:c.932G>A; NP_055064.1:p.Arg311Gln	28937873	5532

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR2E3

Contributors

Asha Deepthi: 30.05.2021
Sayeeda Hana: 08.06.2020
Ghazi O. Tadmouri: 17.04.2013
Abdul R Hamzeh: 11.03.2013

Edit History

Asha Deepthi: 30.05.2021
Sayeeda Hana: 09.06.2020
Sayeeda Hana: 08.06.2020
Pratibha Nair: 18.04.2013

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