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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	440435
Gene name Gene Name - the full gene name approved by the HGNC.	G protein-coupled receptor 179
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GPR179
Synonyms (NCBI Gene) Gene synonyms aliases	CSNB1E, GPR158L, GPR158L1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CSNB1E
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q12
Summary Summary of gene provided in NCBI Entrez 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

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(5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007601	Process	Visual perception	IMP	22325362
GO:0016021	Component	Integral component of membrane	IEA

MIM	HGNC	e!Ensembl
614515	31371	ENSG00000277399

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID
Causal
Congenital stationary night blindness	Cone-rod synaptic disorder, congenital nonprogressive, Congenital stationary night blindness	rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911 View all (100 more)
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Congenital stationary night blindness, x-linked	X-Linked Csnb	ClinVar
Aggressive Periodontitis	Aggressive Periodontitis	GWAS

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining
Color Vision Defects	Associate	32881472
Enhanced S Cone Syndrome	Associate	32881472
Myopia	Associate	38243264
Night blindness congenital stationary	Associate	24715752, 32881472
Retinal Dystrophies	Associate	32881472

GPR179 (G protein-coupled receptor 179)