G Protein-Coupled Receptor 179

Alternative Names

  • GPR179
  • GPR158-Like
  • GPR158L
  • GPR158L1
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OMIM Number

614515

NCBI Gene ID

440435

Uniprot ID

Q6PRD1

Length

18,318 bases

No. of Exons

11

No. of isoforms

1

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 NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001004334.3:c.1807C>TLebanonchr17:38334016PathogenicPathogenicNight Blindness, Congenital Stationary, Type 1ENG_032655.2:g.14795C>T; NM_001004334.3:c.1807C>T; NP_001004334.3:p.His603Tyr28187523431200
NM_001004334.4:c.349G>ASaudi ArabiaNC_000017.11:g.38343441C>TUncertain SignificanceLikely PathogenicRetinitis PigmentosaNG_032655.2:g.5370G>A; NM_001004334.4:c.349G>A; NP_001004334.3:p.Asp117Asn776996552191075
NM_001004334.4:c.864G>ASaudi ArabiaNC_000017.11:g.38339456C>TLikely PathogenicNight Blindness, Congenital Stationary, Type 1ENG_032655.2:g.9355G>A; NM_001004334.4:c.864G>A; NP_001004334.3:p.Trp288Ter
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