Photoreceptor Cilium Actin Regulator - CAGS

Photoreceptor Cilium Actin Regulator

Alternative Names

PCARE
Chromosome 2 Open Reading Frame 71
C2ORF71

Associated Diseases

Retinitis Pigmentosa 54

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OMIM Number

NCBI Gene ID

Uniprot ID

Length

13,863 bases

No. of Exons

2

No. of isoforms

1

Protein Name

Photoreceptor Cilium Actin Regulator

Molecular Mass

139655 Da

Amino Acid Count

1288

Genomic Location

chr2:29,061,694-29,074,522

Gene Map Locus

2p23.2

Description

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. [From RefSeq]

Epidemiology in the Arab World

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001029883.3:c.1377delT	Iraq	NC_000002.12:g.29072887del	Pathogenic	Likely Pathogenic	Retinitis Pigmentosa 54	NG_021427.1:g.6377del; NM_001029883.3:c.1377delT; NP_001025054.1:p.Phe459LeufsTer39		978989
NM_001029883.3:c.2756_2758del	Lebanon	NC_000002.12:g.29071504_29071506del		Pathogenic	Retinitis Pigmentosa 54	NG_021427.1:g.7756_7758del; NM_001029883.3:c.2756_2758del; NP_001025054.1:p.Lys919_Pro920delinsThr
NM_001029883.3:c.2967del	United Arab Emirates	NC_000002.12:g.29071295del	Pathogenic	Likely Pathogenic	Retinitis Pigmentosa 54	NG_021427.1:g.7967del; NM_001029883.3:c.2967del; NP_001025054.1:p.Val990TrpfsTer45	1667476173	979001
NM_001029883.3:c.3002G>A	Egypt	chr2:29071260	Pathogenic	Pathogenic	Retinitis Pigmentosa 54	NG_021427.1:g.8002G>A; NM_001029883.3:c.3002G>A; NP_001025054.1:p.Trp1001Ter	367658438	438048
NM_001029883.3:c.802C>T	Lebanon	NC_000002.12:g.29073460G>A	Pathogenic	Pathogenic	Retinitis Pigmentosa 54	NG_021427.1:g.5802C>T; NM_001029883.3:c.802C>T; NP_001025054.1:p.Gln268Ter	866543181	866617

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External Links

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

Contributors

Asha Deepthi: 31.05.2021
Pratibha Nair: 18.01.2021
Sayeeda Hana: 04.06.2020

Edit History

Asha Deepthi: 31.05.2021
Pratibha Nair: 18.01.2021
Sayeeda Hana: 04.06.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.