GPR179 (G protein-coupled receptor 179)

Gene

• Entrez ID: 440435
• Gene name: G protein-coupled receptor 179
• Gene symbol: GPR179
• Synonyms: CSNB1E, GPR158L, GPR158L1
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 614515
• HGNC: 31371
• e!Ensembl: 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

• 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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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, rs122456133, rs122456134, rs122456135, rs2147483647, rs104893789, rs104893790, rs104893796, rs121918582, rs104893740, rs80359870, rs387906862, rs786205113, rs772011426, rs281875234, rs794726685, rs387907138, rs773126191, rs770066665, rs794726686, rs397509379, rs397509380, rs61750168, rs281865186, rs281865194, rs150115958, rs786205852, rs786205853, rs786205854, rs778390089, rs869312176, rs879253773, rs879253774, rs886039559, rs886039560, rs886043488, rs1057518829, rs104893793, rs1553186509, rs61751398, rs781463257, rs531851447, rs770380556, rs748046539, rs1555418784, rs1555424166, rs781610444, rs1555424849, rs1555966753, rs1555967281, rs1557106008, rs1557107192, rs1557107417, rs1557108147, rs1557109796, rs1557109912, rs1557110046, rs1557110192, rs1557110499, rs1557110988, rs372529012, rs374913800, rs1410075831, rs766780281, rs1555967031, rs1566945534, rs777989874, rs782581701, rs1485132228, rs1567728372, rs1567725425, rs150441866, rs1358925739, rs779821510, rs1590998813, rs1594580431, rs777168556, rs763546583, rs1290420698, rs765645888, rs1596029830, rs1602180478, rs1602180791, rs1602181006, rs1602181043, rs1602181253, rs1602627593, rs782740998, rs1602630650, rs1602639607, rs1602641426, rs1602644716, rs1602658505, rs1602628429, rs2065841382, rs1596017653, rs769355168, rs1578278438, rs984572250, rs775166854, rs2065717735
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease name	Disease term	dbSNP ID	References
Disorder of eye	Disorder of eye
Hypoplasia of optic disc	Hypoplasia of optic disc
Night blindness	Night blindness, congenital stationary, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder), NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E, Night Blindness, Congenital Stationary, Type 1A, Night blindness, congenital stationary, type 1		22325361, 22325362
Nyctalopia	Nyctalopia
Strabismus	Strabismus
Congenital stationary night blindness, x-linked	X-Linked Csnb	rs201620180, rs762960396