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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3000
Gene name Gene Name - the full gene name approved by the HGNC.	Guanylate cyclase 2D, retinal
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GUCY2D
Synonyms (NCBI Gene) Gene synonyms aliases	CACD, CACD1, CG-E, CORD5, CORD6, CSNB1I, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain,

Show/Hide all(67)

SNP ID	Visualize variation	Clinical significance	Consequence
rs12602083	G>A,C,T	Pathogenic	Splice acceptor variant
rs28933695	G>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61749665	G>T	Likely-benign, pathogenic, benign	Missense variant, coding sequence variant
rs61749668	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs61749670	C>-	Likely-pathogenic, pathogenic, not-provided	Frameshift variant, coding sequence variant
rs61749671	C>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs61749678	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs61749679	C>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs61749682	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs61749755	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61749758	T>A,C	Likely-pathogenic, not-provided	Splice donor variant
rs61750168	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61750172	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61750173	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic, not-provided	Missense variant, coding sequence variant
rs61750174	C>A,G,T	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs61750187	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs138836357	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs140638938	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs141967896	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143745703	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs146149224	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146849545	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148136213	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs188568530	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs201414567	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201587670	G>A,C	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs267606857	T>C	Pathogenic	Coding sequence variant, missense variant
rs386834239	->ACCA	Pathogenic	Frameshift variant, coding sequence variant
rs529594203	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs541299023	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs552184470	TCTGCT>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Inframe deletion, coding sequence variant
rs557108466	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs573367793	G>C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs748798324	C>T	Pathogenic	Coding sequence variant, stop gained
rs750889782	G>A	Pathogenic	Coding sequence variant, missense variant
rs757823463	G>C	Pathogenic	Splice donor variant
rs763890649	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs768390959	C>T	Pathogenic	Stop gained, coding sequence variant
rs775105018	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs776298636	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs781725943	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205499	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786205500	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794727952	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs868557040	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs878853342	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs945734402	A>G	Pathogenic	Splice acceptor variant
rs952193754	GCCGCCGCCCGCCTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1006935198	C>G	Pathogenic	Stop gained, coding sequence variant
rs1064797217	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1290420698	C>T	Pathogenic	Stop gained, coding sequence variant
rs1341592819	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1348467293	G>A	Pathogenic	Splice donor variant
rs1555635550	GCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCG>-	Pathogenic	Splice donor variant, intron variant, splice acceptor variant, coding sequence variant
rs1555635668	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555635778	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555635925	->CGTGCTCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567958644	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567961680	C>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1598144694	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598146173	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598146589	->TGGCTGGGGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598149154	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1598149187	T>G	Pathogenic	Missense variant, coding sequence variant
rs1598149659	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598150539	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1598150793	G>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001653	Function	Peptide receptor activity	IBA
GO:0001750	Component	Photoreceptor outer segment	IDA	7912093
GO:0004383	Function	Guanylate cyclase activity	IBA
GO:0004383	Function	Guanylate cyclase activity	IDA	21928830, 30319355
GO:0004383	Function	Guanylate cyclase activity	IEA
GO:0004383	Function	Guanylate cyclase activity	TAS	9888789
GO:0004672	Function	Protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	21078983, 21124868
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005640	Component	Nuclear outer membrane	TAS	7777544
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	30319355
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	1356371
GO:0006182	Process	CGMP biosynthetic process	IBA
GO:0006182	Process	CGMP biosynthetic process	IEA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IBA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	TAS	1356371
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9888789
GO:0009190	Process	Cyclic nucleotide biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016849	Function	Phosphorus-oxygen lyase activity	IEA
GO:0019934	Process	CGMP-mediated signaling	IEA
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	IEA
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	TAS
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038023	Function	Signaling receptor activity	TAS	1356371
GO:0042622	Component	Photoreceptor outer segment membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS

MIM	HGNC	e!Ensembl
600179	4689	ENSG00000132518

Protein

UniProt ID

Q02846

Protein name

Retinal guanylyl cyclase 1 (RETGC-1) (EC 4.6.1.2) (CG-E) (Guanylate cyclase 2D, retinal) (Rod outer segment membrane guanylate cyclase) (ROS-GC)

Protein function

Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:15123990, PubMed:21928830, PubMed:26100624, PubMed:30319355, PubMed:9600905).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	72 → 400	Receptor family ligand binding region	Family
PF07714	PK_Tyr_Ser-Thr	554 → 805	Protein tyrosine and serine/threonine kinase	Domain
PF07701	HNOBA	808 → 865	Heme NO binding associated	Domain
PF00211	Guanylate_cyc	871 → 1058	Adenylate and Guanylate cyclase catalytic domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Retina. {ECO:0000269|PubMed:7912093}.

Sequence

MTACARRAGGLPDPGLCGPAWWAPSLPRLPRALPRLPLLLLLLLLQPPALSAVFTVGVLG
PWACDPIFSRARPDLAARLAAARLNRDPGLAGGPRFEVALLPEPCRTPGSLGAVSSALAR
VSGLVGPVNPAACRPAELLAEEAGIALVPWGCPWTQAEGTTAPAVTPAADALYALLRAFG
WARVALVTAPQDLWVEAGRSLSTALRARGLPVASVTSMEPLDLSGAREALRKVRDGPRVT
AVIMVMHSVLLGGEEQRYLLEAAEELGLTDGSLVFLPFDTIHYALSPGPEALAALANSSQ
LRRAHDAVLTLTRHCPSEGSVLDSLRRAQERRELPSDLNLQQVSPLFGTIYDAVFLLARG
VAEARAAAGGRWVSGAAVARHIRDAQVPGFCGDLGGDEEPPFVLLDTDAAGDRLFATYML
DPARGSFLSAGTRMHFPRGGSAPGPDPSCWFDPNNICGGGLEPGLVFLGFLLVVGMGLAG
AFLAHYVRHRLLHMQMVSGPNKIILTVDDITFLHPHGGTSRKVAQGSRSSLGARSMSDIR
SGPSQHLDSPNIGVYEGDRVWLKKFPGDQHIAIRPATKTAFSKLQELRHENVALYLGLFL
ARGAEGPAALWEGNLAVVSEHCTRGSLQDLLAQREIKLDWMFKSSLLLDLIKGIRYLHHR
GVAHGRLKSRNCIVDGRFVLKITDHGHGRLLEAQKVLPEPPRAEDQLWTAPELLRDPALE
RRGTLAGDVFSLAIIMQEVVCRSAPYAMLELTPEEVVQRVRSPPPLCRPLVSMDQAPVEC
ILLMKQCWAEQPELRPSMDHTFDLFKNINKGRKTNIIDSMLRMLEQYSSNLEDLIRERTE
ELELEKQKTDRLLTQMLPPSVAEALKTGTPVEPEYFEQVTLYFSDIVGFTTISAMSEPIE
VVDLLNDLYTLFDAIIGSHDVYKVETIGDAYMVASGLPQRNGQRHAAEIANMSLDILSAV
GTFRMRHMPEVPVRIRIGLHSGPCVAGVVGLTMPRYCLFGDTVNTASRMESTGLPYRIHV
NLSTVGILRALDSGYQVELRGRTELKGKGAEDTFWLVGRRGFNKPIPKPPDLQPGSSNHG
ISLQEIPPERRRKLEKARPGQFS

Sequence length

1103

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Olfactory transduction Phototransduction		Inactivation, recovery and regulation of the phototransduction cascade

Show/Hide Causal Diseases (11)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Choroidal Dystrophy	Choroidal dystrophy, central areolar, 1	rs1006935198, rs61750172, rs61750184, rs748798324	N/A
Cone Dystrophy	cone dystrophy	rs61749668, rs61750172, rs61750173	N/A
Cone-rod dystrophy	Cone-rod dystrophy 6	rs1006935198, rs267606857, rs61750184, rs201587670, rs1555635778, rs61750173, rs61749679, rs1598146173, rs1598149154, rs748798324, rs61750172	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs1598150539, rs1598150793, rs61750173	N/A
Congenital stationary night blindness	Night blindness, congenital stationary, type1i	rs1290420698, rs61750168	N/A
Leber Congenital Amaurosis	Leber congenital amaurosis 1, leber congenital amaurosis	rs61750189, rs61749759, rs748798324, rs63749076, rs61750183, rs201587670, rs281865411, rs386834239, rs61750161, rs61749671, rs61750171, rs1598144694, rs61749663, rs61750184, rs61749668 View all (37 more)	N/A
Progressive Cone Dystrophy	progressive cone dystrophy (without rod involvement)	rs61750173	N/A
retinal dystrophy	Retinal dystrophy	rs61750172, rs748798324, rs61750161, rs61750171, rs1975949139, rs143745703, rs769818541, rs61750168, rs61750185, rs61750173, rs61749669, rs878853342, rs1598146589, rs61749679, rs757823463, rs61750183 View all (1 more)	N/A
Optic Atrophy	optic atrophy	rs61750185	N/A
Retinal Dystrophy	Early-onset retinal dystrophy	rs386834239	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs61750173	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Central Areolar Choroidal Dystrophy	central areolar choroidal dystrophy	N/A	N/A	GenCC
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alstrom Syndrome	Associate	26957854
Amaurosis congenita of Leber type 1	Associate	10711674, 23035049, 32009068, 32255808, 33109612
Anophthalmos	Associate	40141357
Atrophy	Associate	36509996
Blindness	Associate	20517349, 28403437, 33109612, 35314386
Cataract	Associate	40141357
Chromosome Aberrations	Associate	8104536
Color Vision Defects	Associate	36509996
Cone Dystrophy	Associate	22194653, 23734073, 24480840, 36509996, 8782056
Cone Rod Dystrophies	Associate	10430891, 10507726, 17200655, 18487367, 20517349, 21552474, 23734073, 25515582, 32009068, 33109612, 35314386, 36490268, 37327959, 40478561
Eye Diseases	Associate	32976546, 36490268
Genetic Diseases Inborn	Associate	38453143
Hypertensive Retinopathy	Associate	25515582, 37327959, 40478561
Leber Congenital Amaurosis	Associate	10398730, 10507726, 10615133, 15123990, 18055820, 18682808, 18936139, 19753312, 19959640, 20050595, 20683928, 23035049, 24066033, 25775262, 26100624 View all (19 more)
Leber Congenital Amaurosis	Stimulate	21602930
Lung Neoplasms	Associate	36224547
Lymphoma Non Hodgkin	Associate	8104536
Macular Degeneration	Associate	21552474, 32009068
Myopathies Nemaline	Associate	33109612
Myopia	Associate	35567543
Neoplasms	Inhibit	8104536
Nerve Degeneration	Associate	23308101
Night Blindness	Associate	37327959, 40478561
Night blindness congenital stationary	Associate	33109612, 40478561
Nystagmus Pathologic	Associate	26957854, 37327959
Refsum Disease Infantile	Associate	36460718, 40141357
Retinal Cone Dystrophy 1	Associate	18487367, 22194653, 23734073, 9651312
Retinal Degeneration	Associate	26100624, 26352687
Retinal Diseases	Associate	21552474, 23035049, 25775262, 32423767
Retinal Dystrophies	Associate	15123990, 20050595, 24516651, 29068140, 34588515, 35567543, 36084042, 37327959, 40141357
Retinal Dystrophy Early Onset Severe	Associate	18055820
Retinitis	Associate	32009068
Retinitis Pigmentosa	Associate	16272259, 32976546
Vision Disorders	Associate	23035049
Walker Warburg Syndrome	Associate	23734073

GUCY2D (guanylate cyclase 2D, retinal)