G Protein-Coupled Receptor 179

Alternative Names

GPR179
GPR158-Like
GPR158L
GPR158L1

Length

18,318 bases

No. of Exons

No. of isoforms

Protein Name

Probable G-protein coupled receptor 179

Molecular Mass

257363 Da

Amino Acid Count

2367

Genomic Location

chr17:38,325,530-38,343,847

Gene Map Locus

17q12

Description

This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [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
NM_001004334.3:c.1807C>T	Lebanon	chr17:38334016	Pathogenic	Pathogenic	Night Blindness, Congenital Stationary, Type 1E	NG_032655.2:g.14795C>T; NM_001004334.3:c.1807C>T; NP_001004334.3:p.His603Tyr	281875234	31200
NM_001004334.4:c.349G>A	Saudi Arabia	NC_000017.11:g.38343441C>T	Uncertain Significance	Likely Pathogenic	Retinitis Pigmentosa	NG_032655.2:g.5370G>A; NM_001004334.4:c.349G>A; NP_001004334.3:p.Asp117Asn	776996552	191075
NM_001004334.4:c.864G>A	Saudi Arabia	NC_000017.11:g.38339456C>T		Likely Pathogenic	Night Blindness, Congenital Stationary, Type 1E	NG_032655.2:g.9355G>A; NM_001004334.4:c.864G>A; NP_001004334.3:p.Trp288Ter

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External Links

https://ghr.nlm.nih.gov/gene/GPR179 https://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR179 https://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=full_report&list_uids=440435

Contributors

Pratibha Nair: 31.03.2020

Edit History

Sayeeda Hana: 13.08.2024
Pratibha Nair: 31.03.2020

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