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. [provided by RefSeq, Apr 2012] See more...

Aliases for GPR179 Gene

Aliases for GPR179 Gene

  • G Protein-Coupled Receptor 179 2 3 5
  • Probable G-Protein Coupled Receptor 158-Like 1 3 4
  • Probable G-Protein Coupled Receptor 179 3 4
  • GPR158-Like 1 2 3
  • GPR158L1 3 4
  • GPR158L 3 4
  • GPR179 2 5
  • CSNB1E 2 3
  • GPR158-Like 4

External Ids for GPR179 Gene

Previous HGNC Symbols for GPR179 Gene

  • GPR158L1

Previous GeneCards Identifiers for GPR179 Gene

  • GC17M033736
  • GC17M036487
  • GC17M032278

Summaries for GPR179 Gene

Entrez Gene Summary for GPR179 Gene

  • 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. [provided by RefSeq, Apr 2012]

GeneCards Summary for GPR179 Gene

GPR179 (G Protein-Coupled Receptor 179) is a Protein Coding gene. Diseases associated with GPR179 include Night Blindness, Congenital Stationary, Type 1E and Congenital Stationary Night Blindness. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity. An important paralog of this gene is GPR158.

UniProtKB/Swiss-Prot Summary for GPR179 Gene

  • Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells.

Gene Wiki entry for GPR179 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPR179 Gene

Genomics for GPR179 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GPR179 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J038343 Promoter 0.3 EPDnew 600.7 0.0 -19 0.1 GPR179 lnc-SOCS7-1 SOCS7
GH17J038350 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.5 -8.7 -8733 4.2 SP1 CREB1 GATAD2A PRDM10 ZNF629 TFE3 SOX13 IKZF1 NFKBIZ KDM1A SOCS7 piR-61505 GPR179 ARHGAP23 piR-33746
GH17J038414 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 12 -71.5 -71537 2.4 HNRNPL GATAD2A CTCF PRDM10 ZNF629 LEF1 SOX13 ZNF692 ZNF7 JUND lnc-GPR179-3 LOC105371762 RPL19 SNORA21 RPL23 GPR179 FBXL20 EPOP ARHGAP23 SOCS7
GH17J038420 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -76.9 -76933 4.6 PRDM10 ZSCAN4 POLR2A PATZ1 EZH2 ZBTB26 ZBTB17 ZFHX2 ZNF335 KLF17 ARHGAP23 GPR179 MRPL45 SRCIN1 SOCS7 LOC101929494
GH17J038349 Enhancer 0.8 ENCODE 12 -5.4 -5357 0.2 GATAD2A CTCF JUND FOXA1 ZNF143 RXRB REST RAD21 IRF2 TRIM22 lnc-GPR179-2 GPR179 ARHGAP23 SOCS7 piR-61505
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPR179 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPR179

Top Transcription factor binding sites by QIAGEN in the GPR179 gene promoter:
  • ATF-2
  • c-Jun
  • c-Myb
  • Egr-2
  • GR-beta
  • MAZR
  • POU2F1
  • POU2F1a
  • SEF-1 (1)
  • SREBP-1a

Genomic Locations for GPR179 Gene

Genomic Locations for GPR179 Gene
chr17:38,324,571-38,343,956
(GRCh38/hg38)
Size:
19,386 bases
Orientation:
Minus strand
chr17:36,481,413-36,499,730
(GRCh37/hg19)
Size:
18,318 bases
Orientation:
Minus strand

Genomic View for GPR179 Gene

Genes around GPR179 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPR179 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPR179 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPR179 Gene

Proteins for GPR179 Gene

  • Protein details for GPR179 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PRD1-GP179_HUMAN
    Recommended name:
    Probable G-protein coupled receptor 179
    Protein Accession:
    Q6PRD1

    Protein attributes for GPR179 Gene

    Size:
    2367 amino acids
    Molecular mass:
    257363 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GPR179 Gene

Post-translational modifications for GPR179 Gene

  • Glycosylation at Asn75 and Asn298
  • Modification sites at PhosphoSitePlus

Other Protein References for GPR179 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GPR179 Gene

Domains & Families for GPR179 Gene

Gene Families for GPR179 Gene

Protein Domains for GPR179 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPR179 Gene

GenScript: Design optimal peptide antigens:
  • Probable G-protein coupled receptor 158-like 1 (GP179_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PRD1

UniProtKB/Swiss-Prot:

GP179_HUMAN :
  • Belongs to the G-protein coupled receptor 3 family.
Family:
  • Belongs to the G-protein coupled receptor 3 family.
genes like me logo Genes that share domains with GPR179: view

Function for GPR179 Gene

Molecular function for GPR179 Gene

UniProtKB/Swiss-Prot Function:
Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells.

Phenotypes From GWAS Catalog for GPR179 Gene

Gene Ontology (GO) - Molecular Function for GPR179 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
genes like me logo Genes that share ontologies with GPR179: view

Phenotypes for GPR179 Gene

genes like me logo Genes that share phenotypes with GPR179: view

Human Phenotype Ontology for GPR179 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPR179

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GPR179 Gene

Localization for GPR179 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPR179 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPR179 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GPR179 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0044292 dendrite terminus IEA --
genes like me logo Genes that share ontologies with GPR179: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPR179 Gene

Pathways & Interactions for GPR179 Gene

PathCards logo

SuperPathways for GPR179 Gene

No Data Available

Interacting Proteins for GPR179 Gene

Gene Ontology (GO) - Biological Process for GPR179 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0007601 visual perception IEA,IMP 22325362
GO:0072659 protein localization to plasma membrane IEA --
genes like me logo Genes that share ontologies with GPR179: view

No data available for Pathways by source and SIGNOR curated interactions for GPR179 Gene

Drugs & Compounds for GPR179 Gene

No Compound Related Data Available

Transcripts for GPR179 Gene

mRNA/cDNA for GPR179 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPR179

Alternative Splicing Database (ASD) splice patterns (SP) for GPR179 Gene

No ASD Table

Relevant External Links for GPR179 Gene

GeneLoc Exon Structure for
GPR179

Expression for GPR179 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPR179 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GPR179 Gene

This gene is overexpressed in Brain - Cortex (x5.1), Brain - Hypothalamus (x4.6), Brain - Frontal Cortex (BA9) (x4.6), Brain - Nucleus accumbens (basal ganglia) (x4.5), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for GPR179 Gene

This gene is overexpressed in Heart (19.8), Bone (18.4), and Neutrophil (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GPR179 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPR179

SOURCE GeneReport for Unigene cluster for GPR179 Gene:

Hs.462915

mRNA Expression by UniProt/SwissProt for GPR179 Gene:

Q6PRD1-GP179_HUMAN
Tissue specificity: Expressed in the retina.

Evidence on tissue expression from TISSUES for GPR179 Gene

  • Nervous system(4.4)
  • Eye(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPR179 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • blood
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with GPR179: view

No data available for Protein tissue co-expression partners for GPR179 Gene

Orthologs for GPR179 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPR179 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GPR179 30
  • 99.28 (n)
Dog
(Canis familiaris)
Mammalia GPR179 30
  • 82.11 (n)
Cow
(Bos Taurus)
Mammalia GPR179 30
  • 81.98 (n)
Mouse
(Mus musculus)
Mammalia Gpr179 30 17
  • 76.44 (n)
Rat
(Rattus norvegicus)
Mammalia Gpr179 30
  • 75.87 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gpr179 30
  • 54.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101884475 30
  • 57.35 (n)
Species where no ortholog for GPR179 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GPR179 Gene

ENSEMBL:
Gene Tree for GPR179 (if available)
TreeFam:
Gene Tree for GPR179 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPR179: view image

Paralogs for GPR179 Gene

Paralogs for GPR179 Gene

genes like me logo Genes that share paralogs with GPR179: view

Variants for GPR179 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPR179 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
636173 Uncertain Significance: Retinitis pigmentosa 38,328,725(-) TCTC/T INFRAME_DELETION
667427 Conflicting Interpretations: not specified; not provided 38,330,429(-) ATC/A FRAMESHIFT_VARIANT
808255 Likely Pathogenic: not provided 38,335,105(-) G/A NONSENSE
866143 Likely Pathogenic: Retinal dystrophy 38,328,868(-) GCT/G FRAMESHIFT_VARIANT
866144 Uncertain Significance: Retinal dystrophy 38,328,866(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GPR179 Gene

Structural Variations from Database of Genomic Variants (DGV) for GPR179 Gene

Variant ID Type Subtype PubMed ID
esv2758688 CNV gain+loss 17122850
esv33106 CNV gain 17666407
nsv1146669 OTHER inversion 26484159
nsv428341 CNV gain+loss 18775914

Variation tolerance for GPR179 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.51; 88.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPR179 Gene

Human Gene Mutation Database (HGMD)
GPR179
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPR179

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPR179 Gene

Disorders for GPR179 Gene

MalaCards: The human disease database

(9) MalaCards diseases for GPR179 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
night blindness, congenital stationary, type 1e
  • csnb, complete, autosomal recessive
congenital stationary night blindness
  • congenital essential nyctalopia
night blindness
  • nyctalopia
abnormal threshold of rods
  • abnormal dark adaptation curve
night blindness, congenital stationary, type 1b
  • csnb1b
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GP179_HUMAN
  • Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565]: An autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells. {ECO:0000269 PubMed:22325361, ECO:0000269 PubMed:22325362}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with GPR179: view

No data available for Genatlas for GPR179 Gene

Publications for GPR179 Gene

  1. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. (PMID: 22325362) Peachey NS … Gregg RG (American journal of human genetics 2012) 3 4
  2. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. (PMID: 22325361) Audo I … Zeitz C (American journal of human genetics 2012) 3 4
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4
  4. Transsynaptic Binding of Orphan Receptor GPR179 to Dystroglycan-Pikachurin Complex Is Essential for the Synaptic Organization of Photoreceptors. (PMID: 30282023) Orlandi C … Martemyanov KA (Cell reports 2018) 3
  5. Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness. (PMID: 27428514) Dan H … Li T (Ophthalmic genetics 2017) 3

Products for GPR179 Gene

Sources for GPR179 Gene