Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	440435
Gene name	G protein-coupled receptor 179
Gene symbol	GPR179
Synonyms (NCBI Gene)	CSNB1EGPR158LGPR158L1
Chromosome	17
Chromosome location	17q12
Summary	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

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs281875234	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs281875236	T>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs387907138	G>A	Pathogenic	Stop gained, coding sequence variant
rs747682469	G>A	Pathogenic	Coding sequence variant, stop gained
rs757246221	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs770066665	G>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs773022324	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs773126191	C>T	Pathogenic	Splice donor variant
rs776189685	TC>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs776996552	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794726685	G>-,GG	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs794726686	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043388	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886043488	ACCTG>GTAGATCA	Likely-pathogenic, pathogenic	Inframe indel, coding sequence variant, stop gained
rs980007216	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1200683561	->TG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1567725425	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567728372	->AG	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments
MIRT1030973	hsa-miR-3173-3p	CLIP-seq
MIRT1030974	hsa-miR-3677-5p	CLIP-seq
MIRT1030975	hsa-miR-3926	CLIP-seq
MIRT1030976	hsa-miR-4271	CLIP-seq
MIRT1030977	hsa-miR-4725-3p	CLIP-seq
MIRT1030978	hsa-miR-4779	CLIP-seq
MIRT1030979	hsa-miR-4795-5p	CLIP-seq
MIRT1030980	hsa-miR-513c	CLIP-seq
MIRT1030981	hsa-miR-514b-5p	CLIP-seq
MIRT1030982	hsa-miR-548s	CLIP-seq
MIRT2238446	hsa-miR-3170	CLIP-seq
MIRT2238447	hsa-miR-320e	CLIP-seq
MIRT2238448	hsa-miR-4297	CLIP-seq
MIRT2238449	hsa-miR-615-5p	CLIP-seq
MIRT2388641	hsa-miR-214	CLIP-seq
MIRT2388642	hsa-miR-3619-5p	CLIP-seq
MIRT2388643	hsa-miR-4291	CLIP-seq
MIRT2388644	hsa-miR-761	CLIP-seq
MIRT2388645	hsa-miR-922	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	30282023
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	22325362
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IDA	24084093
GO:0030425	Component	Dendrite	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS

MIM	HGNC	e!Ensembl
614515	31371	ENSG00000277399

Q6PRD1

Protein name

Probable G-protein coupled receptor 179 (Probable G-protein coupled receptor 158-like 1) (GPR158-like)

Protein function

Orphan receptor involved in vision (PubMed:22325362, PubMed:24084093). Required for signal transduction through retinal depolarizing bipolar cells (PubMed:22325362). Acts as an atypical G-protein coupled receptor that recruits and regulates the

PDB

8D1B , 8IRJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00003	7tm_3	391 → 633	7 transmembrane sweet-taste receptor of 3 GCPR	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the retina. {ECO:0000269|PubMed:22325361}.

Sequence

MGTRGAVMPPPMWGLLGCCFVCAWALGGPRPIRSLPPLSSQVKPGSVPMQVPLEGAEAAL
AYLYSGDAQQLSQVNCSERYEARGAGAMPGLPPSLQGAAGTLAQAANFLNMLLQANDIRE
SSVEEDVEWYQALVRSVAEGDPRVYRALLTFNPPPGASHLQLALQATRTGEETILQDLSG
NWVQEENPPGDLDTPALKKRVLTNDLGSLGSPKWPQADGYVGDTQQVRLSPPFLECQEGR
LRPGWLITLSATFYGLKPDLSPEVRGQVQMDVDLQSVDINQCASGPGWYSNTHLCDLNST
QCVPLESQGFVLGRYLCRCRPGFYGASPSGGLEESDFQTTGQFGFPEGRSGRLLQCLPCP
EGCTSCMDATPCLVEEAAVLRAAVLACQACCMLAIFLSMLVSYRCRRNKRIWASGVVLLE
TVLFGFLLLYFPVFILYFKPSVFRCIALRWVRLLGFAIVYGTIILKLYRVLQLFLSRTAQ
RSALLSSGRLLRRLGLLLLPVLGFLAVWTVGALERGIQHAPLVIRGHTPSGRHFYLCHHD
RWDYIMVVAELLLLCWGSFLCYATRAVLSAFHEPRYMGIALHNELLLSAAFHTARFVLVP
SLHPDWTLLLFFFHTHSTVTTTLALIFIPKFWKLGAPPREEMVDEVCEDELDLQHSGSYL
GSSIASAWSEHSLDPGDIRDELKKLYAQLEVHKTKEMAANNPHLPKKRGSSCQGLGRSFM
RYLAEFPEALARQHSRDSGSPGHGSLPGSSRRRLLSSSLQEPEGTPALHKSRSTYDQRRE
QDPPLLDSLLRRKLAKKASRTESRESVEGPPALGFRSASAHNLTVGERLPRARPASLQKS
LSVASSREKALLMASQAYLEETYRQAKEREERKKAKAAMASLVRRPSARRLERPRGAPLS
APPSPAKSSSVDSSHTSGRLHEEARRRLPHPPIRHQVSTPILALSGGLGEPRMLSPTSTL
APALLPALAPTPAPALAPVPVSPQSPNLLTYICPWENAELPAKQENVPQEGPSGPERGHH
SPAPARARLWRALSVAVEKSRAGENEMDAEDAHHQREANDVDEDRPKIFPKSHSLKAPVQ
QGSMRSLGLAIKALTRSRSTYREKESVEESPEGQNSGTAGESMGAPSRSPRLGRPKAVSK
QAALIPSDDKESLQNQQNAHTSRMLQVCQREGSREQEDRGRRMTQGLGERKAERAGKTGL
AMLRQVSRDKNIKQSKETPVGWQELPKAGLQSLGSADHRVAEVCPWEVTESETRQPDSGN
KAEICPWETSEGAPESRALRQDPGDSQKKRGEARGKSEPIDVVPMMRKKPERLVREQEAV
CPWESADRGGLSPGSAPQDPGRIRDKSEAGDSVEARKVEKPGWEAAGPEAHTPDITKAEP
CPWEASEGGEDGKPAQEAVKDLPQEKQKTRKATFWKEQKPGGDLESLCPWESTDFRGPSA
VSIQAPGSSECSGSLGSGIAEVCLWEAGDAPAIQKAEICPWELDDNVMGQEMLSLGTGRE
SLQEKEKASRKGSFGEMGEQTVKAVQKLSQQQESVCPRESTVPGHSSPCLDNSSSKAGSQ
FLCNGGSRATQVCPQEDLRPEAQEATPAKTEICPWEVNERTREEWTSAQVPRGGESQKDK
EKMPGKSEIEDVTAWEKPEGQIQKQEAVGPWESVDPGSFSPQPRPQDTERPQTLLQMSGS
VGSKAADICPLDVEENLTAGKAEICPWEVGAGAGEERALGAEAIRKSPNDTGKVSADLGP
RERAVTAPEKPQKPTPEWEVACPWGSVGPGACSQHPGTLDADGPKAGFQELDHMGCRPGE
VCPWEAQEAATSEKAKICPWEVSEGTTGKGLDQKAGSESAEQREKALEKGRLTSLGEDVS
KGMAKLCQQQETICIWENKDLRESPAQAPKISDLPSSMSSEVAEGHSLEATEKGDLRQDP
KTGSFPEHITQEKAPAADTEEFTTEDGEKTSHELQSVCPWETTAPADSVSHLDRQRPDQP
KASSQRLVSTGGRAADVCPWDVPDAGVYKSDSSAKAETCPWEVTERIPVKGVSRQDGKGD
SQEEKGRAPEKSEPKGVPVQKKPEMADFRQQEAVCPWESQDGKGLSPQPAPDASDRSRGS
SEAAGSVETRVAEVCLWEVVEAPSAKKAEICPWEAGGGAAEEGEQERESQGQGEMFLQKA
GPGGTEEHFSKAAAKPREQEAVCPGEGTGSGGLLPQSGALDPELKVSPKEAGSMGSRMAE
LCQWEITDPEGNKIKGTMADICPGEETGVPSEESGLLALTATRREFFPTAPEKPLCLLVH
GPLDHFFPESKIPCPKVSRPASTFTLEGVRELQGPSGLEPRTSLAPEPSLQEAESQSSSL
TEDSGQVAFEAQYEEFTPPTVYPWDWE

Sequence length

2367

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital stationary night blindness	Likely pathogenic; Pathogenic	rs886043488, rs770066665	RCV000612246 RCV000505034	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital stationary night blindness 1B	Likely pathogenic	rs2037410932	RCV004547261	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital stationary night blindness 1E	Pathogenic; Likely pathogenic	rs1435030978, rs768765919, rs767430727, rs2037388948, rs768587459, rs281875234, rs794726685, rs387907138, rs773126191, rs770066665, rs794726686, rs1567728372, rs1567725425	RCV005623101 RCV004797250 RCV001782229 RCV002283613 RCV005412425 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GPR179-related disorder	Likely pathogenic; Pathogenic	rs764877172	RCV003395297	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Likely pathogenic; Pathogenic	rs770066665, rs773022324	RCV004814924 RCV004818120	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs768587459, rs770066665	RCV004817053 RCV001073427	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Congenital Stationary Night Blindness, Recessive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Color Vision Defects	Color vision deficiency	Pubtator	32881472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-rod synaptic disorder, congenital nonprogressive	Congenital stationary night blindness	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital stationary night blindness	Congenital stationary night blindness	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	38243264	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	24715752, 32881472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	22325361, 24222301		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	ORPHANET_DG	22325361, 22325362		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	CLINVAR_DG	22325361, 22325362		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary, type 1	Night blindness	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Night Blindness, Congenital Stationary, Type 1A	Night blindness	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	Night blindness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E	Night blindness	CLINVAR_DG	22325361		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E	Night blindness	UNIPROT_DG	22325361, 22325362		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E	Night blindness	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)	Night blindness	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	22689652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Csnb	Congenital stationary night blindness, X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

GPR179 (G protein-coupled receptor 179)