UniProtKB - Q02846 (GUC2D_HUMAN)

BLAST

>sp|Q02846|GUC2D_HUMAN Retinal guanylyl cyclase 1 OS=Homo sapiens OX=9606 GN=GUCY2D PE=1 SV=2
MTACARRAGGLPDPGLCGPAWWAPSLPRLPRALPRLPLLLLLLLLQPPALSAVFTVGVLG
PWACDPIFSRARPDLAARLAAARLNRDPGLAGGPRFEVALLPEPCRTPGSLGAVSSALAR
VSGLVGPVNPAACRPAELLAEEAGIALVPWGCPWTQAEGTTAPAVTPAADALYALLRAFG
WARVALVTAPQDLWVEAGRSLSTALRARGLPVASVTSMEPLDLSGAREALRKVRDGPRVT
AVIMVMHSVLLGGEEQRYLLEAAEELGLTDGSLVFLPFDTIHYALSPGPEALAALANSSQ
LRRAHDAVLTLTRHCPSEGSVLDSLRRAQERRELPSDLNLQQVSPLFGTIYDAVFLLARG
VAEARAAAGGRWVSGAAVARHIRDAQVPGFCGDLGGDEEPPFVLLDTDAAGDRLFATYML
DPARGSFLSAGTRMHFPRGGSAPGPDPSCWFDPNNICGGGLEPGLVFLGFLLVVGMGLAG
AFLAHYVRHRLLHMQMVSGPNKIILTVDDITFLHPHGGTSRKVAQGSRSSLGARSMSDIR
SGPSQHLDSPNIGVYEGDRVWLKKFPGDQHIAIRPATKTAFSKLQELRHENVALYLGLFL
ARGAEGPAALWEGNLAVVSEHCTRGSLQDLLAQREIKLDWMFKSSLLLDLIKGIRYLHHR
GVAHGRLKSRNCIVDGRFVLKITDHGHGRLLEAQKVLPEPPRAEDQLWTAPELLRDPALE
RRGTLAGDVFSLAIIMQEVVCRSAPYAMLELTPEEVVQRVRSPPPLCRPLVSMDQAPVEC
ILLMKQCWAEQPELRPSMDHTFDLFKNINKGRKTNIIDSMLRMLEQYSSNLEDLIRERTE
ELELEKQKTDRLLTQMLPPSVAEALKTGTPVEPEYFEQVTLYFSDIVGFTTISAMSEPIE
VVDLLNDLYTLFDAIIGSHDVYKVETIGDAYMVASGLPQRNGQRHAAEIANMSLDILSAV
GTFRMRHMPEVPVRIRIGLHSGPCVAGVVGLTMPRYCLFGDTVNTASRMESTGLPYRIHV
NLSTVGILRALDSGYQVELRGRTELKGKGAEDTFWLVGRRGFNKPIPKPPDLQPGSSNHG
ISLQEIPPERRRKLEKARPGQFS

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History
Entry version 203 (07 Nov 2018)
Sequence version 2 (01 Feb 1996)
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Protein

Retinal guanylyl cyclase 1

Gene

GUCY2D

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction.

Catalytic activityⁱ

GTP = 3',5'-cyclic GMP + diphosphate.

Activity regulationⁱ

Activated by GCAP-1; inhibited by calcium.

GO - Molecular functionⁱ

ATP binding Source: InterPro
GTP binding Source: UniProtKB-KW
guanylate cyclase activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
peptide receptor activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
protein kinase activity Source: InterPro
signaling receptor activity
Source: ProtInc
Traceable author statementⁱ
- 1356371

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cGMP biosynthetic process
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
intracellular signal transduction Source: InterPro
receptor guanylyl cyclase signaling pathway
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
regulation of rhodopsin mediated signaling pathway Source: Reactome
signal transduction
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
visual perception
Source: ProtInc
Traceable author statementⁱ
- 9888789

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Lyase
Biological process	cGMP biosynthesis, Sensory transduction, Vision
Ligand	GTP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAⁱ	4.6.1.2 2681
Reactomeⁱ	R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade

Protein family/group databases

TCDBⁱ	8.A.85.1.3 the guanylate cyclase (gc) family

TCDBⁱ

8.A.85.1.3 the guanylate cyclase (gc) family

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Retinal guanylyl cyclase 1 (EC:4.6.1.2) Short name: RETGC-1 Alternative name(s): Guanylate cyclase 2D, retinal Rod outer segment membrane guanylate cyclase Short name: ROS-GC
Gene namesⁱ	Name:GUCY2D Synonyms:CORD6, GUC1A4, GUC2D, RETGC, RETGC1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 17

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000132518.6
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4689 GUCY2D
MIMⁱ	600179 gene
neXtProtⁱ	NX_Q02846

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	52 – 462	ExtracellularSequence analysisAdd BLAST	411
Transmembraneⁱ	463 – 487	HelicalSequence analysisAdd BLAST	25
Topological domainⁱ	488 – 1103	CytoplasmicSequence analysisAdd BLAST	616

Keywords - Cellular componentⁱ

Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Leber congenital amaurosis 1 (LCA1)7 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_003435	52	A → S in LCA1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61749665EnsemblClinVar.	1
Natural variantⁱVAR_067169	55	T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs201414567EnsemblClinVar.	1
Natural variantⁱVAR_067170	103	E → V in LCA1. 1 Publication	1
Natural variantⁱVAR_023770	105	C → Y in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61749669EnsemblClinVar.	1
Natural variantⁱVAR_067171	312	T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61749673EnsemblClinVar.	1
Natural variantⁱVAR_023771	325	L → P in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61749675EnsemblClinVar.	1
Natural variantⁱVAR_009129	362	A → S in LCA1. Corresponds to variant dbSNP:rs61749677EnsemblClinVar.	1
Natural variantⁱVAR_067173	405 – 406	LD → PN in LCA1.	2
Natural variantⁱVAR_067174	438	R → C in LCA1. 1 PublicationCorresponds to variant dbSNP:rs565948960Ensembl.	1
Natural variantⁱVAR_009131	565	F → S in LCA1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs61749755EnsemblClinVar.	1
Natural variantⁱVAR_009130	573	I → V in LCA1. Corresponds to variant dbSNP:rs61749756EnsemblClinVar.	1
Natural variantⁱVAR_067175	640	W → L in LCA1. 1 Publication	1
Natural variantⁱVAR_067176	660	R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750162EnsemblClinVar.	1
Natural variantⁱVAR_067177	728	D → H in LCA1. 1 Publication	1
Natural variantⁱVAR_067178	734	I → A in LCA1; requires 2 nucleotide substitutions. 1 Publication	1
Natural variantⁱVAR_067179	768	R → W in LCA1. 2 PublicationsCorresponds to variant dbSNP:rs61750168EnsemblClinVar.	1
Natural variantⁱVAR_067180	784	M → R in LCA1. 1 Publication	1
Natural variantⁱVAR_067181	795	R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750171Ensembl.	1
Natural variantⁱVAR_009134	858	P → S in LCA1; severely impairs basal and GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61750176EnsemblClinVar.	1
Natural variantⁱVAR_009135	954	L → P in LCA1; severely impairs basal and GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61750182EnsemblClinVar.	1
Natural variantⁱVAR_067182	1007	S → L in LCA1. 1 Publication	1
Natural variantⁱVAR_067183	1027	I → IGI in LCA1.	1

Cone-rod dystrophy 6 (CORD6)11 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_003438	837 – 839	ERT → DCM in CORD6. 1 Publication	3
Natural variantⁱVAR_003436	837	E → D in CORD6. 1 PublicationCorresponds to variant dbSNP:rs28933695EnsemblClinVar.	1
Natural variantⁱVAR_003437	838	R → C in CORD6. 3 PublicationsCorresponds to variant dbSNP:rs61750172EnsemblClinVar.	1
Natural variantⁱVAR_071605	838	R → G in CORD6. 1 Publication	1
Natural variantⁱVAR_015373	838	R → H in CORD6. 4 PublicationsCorresponds to variant dbSNP:rs61750173EnsemblClinVar.	1
Natural variantⁱVAR_071606	838	R → P in CORD6. 1 Publication	1
Natural variantⁱVAR_071607	849	T → A in CORD6. 1 Publication	1
Natural variantⁱVAR_071608	949	I → T in CORD6. 1 PublicationCorresponds to variant dbSNP:rs267606857EnsemblClinVar.	1

Choroidal dystrophy, central areolar, 1 (CACD1)1 Publication

The disease may be caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_080484	933	V → A in CACD1; unknown pathological significance. 1 Publication		1

Keywords - Diseaseⁱ

Cone-rod dystrophy, Disease mutation, Leber congenital amaurosis

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3000
GeneReviewsⁱ	GUCY2D
MalaCards human disease database More...MalaCardsⁱ	GUCY2D
MIMⁱ	204000 phenotype 215500 phenotype 601777 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000132518
Orphanetⁱ	75377 Central areolar choroidal dystrophy 1872 Cone rod dystrophy 65 Leber congenital amaurosis
PharmGKBⁱ	PA187

Polymorphism and mutation databases

BioMutaⁱ	GUCY2D
DMDMⁱ	1345920

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 51	Sequence analysisAdd BLAST		51
ChainⁱPRO_0000012381	52 – 1103	Retinal guanylyl cyclase 1Add BLAST		1052

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	297	N-linked (GlcNAc...) asparagineSequence analysis	1
Disulfide bondⁱ	449	InterchainCurated
Disulfide bondⁱ	457	InterchainCurated

Keywords - PTMⁱ

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q02846
PaxDbⁱ	Q02846
PeptideAtlas More...PeptideAtlasⁱ	Q02846
PRIDEⁱ	Q02846
ProteomicsDBⁱ	58131

PTM databases

iPTMnetⁱ	Q02846
PhosphoSitePlusⁱ	Q02846

Expressionⁱ

Tissue specificityⁱ

Retina. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptor cells.

Gene expression databases

Bgeeⁱ	ENSG00000132518 Expressed in 62 organ(s), highest expression level in esophagus mucosa
CleanExⁱ	HS_GUCY2D
Genevisibleⁱ	Q02846 HS

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	109255, 2 interactors
IntActⁱ	Q02846, 2 interactors
STRINGⁱ	9606.ENSP00000254854

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q02846
SMRⁱ	Q02846
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	525 – 808	Protein kinasePROSITE-ProRule annotationAdd BLAST		284
Domainⁱ	880 – 1010	Guanylate cyclasePROSITE-ProRule annotationAdd BLAST		131

Sequence similaritiesⁱ

Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.PROSITE-ProRule annotation

Keywords - Domainⁱ

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG1023 Eukaryota COG2114 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118959
HOGENOMⁱ	HOG000293307
HOVERGENⁱ	HBG098487
InParanoidⁱ	Q02846
KEGG Orthology (KO) More...KOⁱ	K12321
OMAⁱ	QVPGFCG
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G00VM
PhylomeDBⁱ	Q02846
TreeFamⁱ	TF106338

Family and domain databases

Gene3Dⁱ	3.30.70.1230, 1 hit
InterProⁱ	View protein in InterPro IPR001054 A/G_cyclase IPR018297 A/G_cyclase_CS IPR001828 ANF_lig-bd_rcpt IPR011645 HNOB_dom_associated IPR011009 Kinase-like_dom_sf IPR029787 Nucleotide_cyclase IPR028082 Peripla_BP_I IPR000719 Prot_kinase_dom IPR001245 Ser-Thr/Tyr_kinase_cat_dom
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01094 ANF_receptor, 1 hit PF00211 Guanylate_cyc, 1 hit PF07701 HNOBA, 1 hit PF07714 Pkinase_Tyr, 1 hit
SMARTⁱ	View protein in SMART SM00044 CYCc, 1 hit
SUPFAMⁱ	SSF53822 SSF53822, 1 hit SSF55073 SSF55073, 1 hit SSF56112 SSF56112, 1 hit
PROSITEⁱ	View protein in PROSITE PS00452 GUANYLATE_CYCLASE_1, 1 hit PS50125 GUANYLATE_CYCLASE_2, 1 hit PS50011 PROTEIN_KINASE_DOM, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

Q02846-1 [UniParc]FASTA Add to basket

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        10         20         30         40         50
MTACARRAGG LPDPGLCGPA WWAPSLPRLP RALPRLPLLL LLLLLQPPAL 
        60         70         80         90        100
SAVFTVGVLG PWACDPIFSR ARPDLAARLA AARLNRDPGL AGGPRFEVAL 
       110        120        130        140        150
LPEPCRTPGS LGAVSSALAR VSGLVGPVNP AACRPAELLA EEAGIALVPW 
       160        170        180        190        200
GCPWTQAEGT TAPAVTPAAD ALYALLRAFG WARVALVTAP QDLWVEAGRS 
       210        220        230        240        250
LSTALRARGL PVASVTSMEP LDLSGAREAL RKVRDGPRVT AVIMVMHSVL 
       260        270        280        290        300
LGGEEQRYLL EAAEELGLTD GSLVFLPFDT IHYALSPGPE ALAALANSSQ 
       310        320        330        340        350
LRRAHDAVLT LTRHCPSEGS VLDSLRRAQE RRELPSDLNL QQVSPLFGTI 
       360        370        380        390        400
YDAVFLLARG VAEARAAAGG RWVSGAAVAR HIRDAQVPGF CGDLGGDEEP 
       410        420        430        440        450
PFVLLDTDAA GDRLFATYML DPARGSFLSA GTRMHFPRGG SAPGPDPSCW 
       460        470        480        490        500
FDPNNICGGG LEPGLVFLGF LLVVGMGLAG AFLAHYVRHR LLHMQMVSGP 
       510        520        530        540        550
NKIILTVDDI TFLHPHGGTS RKVAQGSRSS LGARSMSDIR SGPSQHLDSP 
       560        570        580        590        600
NIGVYEGDRV WLKKFPGDQH IAIRPATKTA FSKLQELRHE NVALYLGLFL 
       610        620        630        640        650
ARGAEGPAAL WEGNLAVVSE HCTRGSLQDL LAQREIKLDW MFKSSLLLDL 
       660        670        680        690        700
IKGIRYLHHR GVAHGRLKSR NCIVDGRFVL KITDHGHGRL LEAQKVLPEP 
       710        720        730        740        750
PRAEDQLWTA PELLRDPALE RRGTLAGDVF SLAIIMQEVV CRSAPYAMLE 
       760        770        780        790        800
LTPEEVVQRV RSPPPLCRPL VSMDQAPVEC ILLMKQCWAE QPELRPSMDH 
       810        820        830        840        850
TFDLFKNINK GRKTNIIDSM LRMLEQYSSN LEDLIRERTE ELELEKQKTD 
       860        870        880        890        900
RLLTQMLPPS VAEALKTGTP VEPEYFEQVT LYFSDIVGFT TISAMSEPIE 
       910        920        930        940        950
VVDLLNDLYT LFDAIIGSHD VYKVETIGDA YMVASGLPQR NGQRHAAEIA 
       960        970        980        990       1000
NMSLDILSAV GTFRMRHMPE VPVRIRIGLH SGPCVAGVVG LTMPRYCLFG 
      1010       1020       1030       1040       1050
DTVNTASRME STGLPYRIHV NLSTVGILRA LDSGYQVELR GRTELKGKGA 
      1060       1070       1080       1090       1100
EDTFWLVGRR GFNKPIPKPP DLQPGSSNHG ISLQEIPPER RRKLEKARPG 

QFS

Length:1,103

Mass (Da):120,059

Last modified:February 1, 1996 - v2

Checksum:ⁱ28631557E7CBDFA4

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_067168	21	W → R1 PublicationCorresponds to variant dbSNP:rs9905402EnsemblClinVar.	1
Natural variantⁱVAR_003435	52	A → S in LCA1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61749665EnsemblClinVar.	1
Natural variantⁱVAR_067169	55	T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs201414567EnsemblClinVar.	1
Natural variantⁱVAR_067170	103	E → V in LCA1. 1 Publication	1
Natural variantⁱVAR_023770	105	C → Y in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61749669EnsemblClinVar.	1
Natural variantⁱVAR_067171	312	T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61749673EnsemblClinVar.	1
Natural variantⁱVAR_023771	325	L → P in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61749675EnsemblClinVar.	1
Natural variantⁱVAR_067172	325	L → R Found in a patient with LCA1. 1 Publication	1
Natural variantⁱVAR_042229	328	A → V1 PublicationCorresponds to variant dbSNP:rs56280231Ensembl.	1
Natural variantⁱVAR_049254	331	R → S. Corresponds to variant dbSNP:rs34596269Ensembl.	1
Natural variantⁱVAR_009129	362	A → S in LCA1. Corresponds to variant dbSNP:rs61749677EnsemblClinVar.	1
Natural variantⁱVAR_067173	405 – 406	LD → PN in LCA1.	2
Natural variantⁱVAR_042230	431	G → D in a metastatic melanoma sample; somatic mutation. 1 Publication	1
Natural variantⁱVAR_067174	438	R → C in LCA1. 1 PublicationCorresponds to variant dbSNP:rs565948960Ensembl.	1
Natural variantⁱVAR_042231	507	V → M1 PublicationCorresponds to variant dbSNP:rs746002871Ensembl.	1
Natural variantⁱVAR_009131	565	F → S in LCA1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs61749755EnsemblClinVar.	1
Natural variantⁱVAR_009130	573	I → V in LCA1. Corresponds to variant dbSNP:rs61749756EnsemblClinVar.	1
Natural variantⁱVAR_049255	602	R → W. Corresponds to variant dbSNP:rs770740012Ensembl.	1
Natural variantⁱVAR_067175	640	W → L in LCA1. 1 Publication	1
Natural variantⁱVAR_067176	660	R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750162EnsemblClinVar.	1
Natural variantⁱVAR_042232	693	A → E1 PublicationCorresponds to variant dbSNP:rs35146471Ensembl.	1
Natural variantⁱVAR_009132	701	P → S Polymorphism that at homozygosity may be associated with Leber congenital amaurosis in some populations. 3 PublicationsCorresponds to variant dbSNP:rs34598902EnsemblClinVar.	1
Natural variantⁱVAR_049256	722	R → W. Corresponds to variant dbSNP:rs34331388Ensembl.	1
Natural variantⁱVAR_067177	728	D → H in LCA1. 1 Publication	1
Natural variantⁱVAR_067178	734	I → A in LCA1; requires 2 nucleotide substitutions. 1 Publication	1
Natural variantⁱVAR_067179	768	R → W in LCA1. 2 PublicationsCorresponds to variant dbSNP:rs61750168EnsemblClinVar.	1
Natural variantⁱVAR_009133	782	L → H Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs8069344EnsemblClinVar.	1
Natural variantⁱVAR_067180	784	M → R in LCA1. 1 Publication	1
Natural variantⁱVAR_067181	795	R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750171Ensembl.	1
Natural variantⁱVAR_003438	837 – 839	ERT → DCM in CORD6. 1 Publication	3
Natural variantⁱVAR_003436	837	E → D in CORD6. 1 PublicationCorresponds to variant dbSNP:rs28933695EnsemblClinVar.	1
Natural variantⁱVAR_003437	838	R → C in CORD6. 3 PublicationsCorresponds to variant dbSNP:rs61750172EnsemblClinVar.	1
Natural variantⁱVAR_071605	838	R → G in CORD6. 1 Publication	1
Natural variantⁱVAR_015373	838	R → H in CORD6. 4 PublicationsCorresponds to variant dbSNP:rs61750173EnsemblClinVar.	1
Natural variantⁱVAR_071606	838	R → P in CORD6. 1 Publication	1
Natural variantⁱVAR_071607	849	T → A in CORD6. 1 Publication	1
Natural variantⁱVAR_009134	858	P → S in LCA1; severely impairs basal and GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61750176EnsemblClinVar.	1
Natural variantⁱVAR_080484	933	V → A in CACD1; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_071608	949	I → T in CORD6. 1 PublicationCorresponds to variant dbSNP:rs267606857EnsemblClinVar.	1
Natural variantⁱVAR_009135	954	L → P in LCA1; severely impairs basal and GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61750182EnsemblClinVar.	1
Natural variantⁱVAR_067182	1007	S → L in LCA1. 1 Publication	1
Natural variantⁱVAR_067183	1027	I → IGI in LCA1.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M92432 mRNA Translation: AAA60547.1 AJ222657 Genomic DNA Translation: CAA10914.1 L26921 Genomic DNA Translation: AAA60366.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11127.1
PIRⁱ	JH0717
NCBI Reference Sequences More...RefSeqⁱ	NP_000171.1, NM_000180.3 XP_011522118.1, XM_011523816.1
UniGeneⁱ	Hs.592109

Genome annotation databases

Ensemblⁱ	ENST00000254854; ENSP00000254854; ENSG00000132518
GeneIDⁱ	3000
KEGGⁱ	hsa:3000
UCSC genome browser More...UCSCⁱ	uc002gjt.3 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q02846	Guanylate cyclase		Cebus capucinus imitator		1106	UniRef90_Q02846
Guanylate cyclase		PANTR		1103
Guanylate cyclase		CALJA		1103
Guanylate cyclase		PONAB		1103
Guanylate cyclase		AOTNA		1103
+15

Protein	Similar proteins		Species	Score	Length	Source
Q02846	Retinal guanylyl cyclase 2		HUMAN		1108	UniRef50_Q02846
Retinal guanylyl cyclase 2		BOVIN		1103
Guanylate cyclase		Cebus capucinus imitator		1106
Guanylate cyclase		NOMLE		1103
Guanylate cyclase		CALJA		1103
+196

Cross-referencesⁱ

Web resourcesⁱ

Mutations of the GUCY2D gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M92432 mRNA Translation: AAA60547.1 AJ222657 Genomic DNA Translation: CAA10914.1 L26921 Genomic DNA Translation: AAA60366.1
CCDSⁱ	CCDS11127.1
PIRⁱ	JH0717
RefSeqⁱ	NP_000171.1, NM_000180.3 XP_011522118.1, XM_011523816.1
UniGeneⁱ	Hs.592109

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1AWL	model	-	A/B	871-1028	[»]
ProteinModelPortalⁱ	Q02846
SMRⁱ	Q02846
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	109255, 2 interactors
IntActⁱ	Q02846, 2 interactors
STRINGⁱ	9606.ENSP00000254854

Protein family/group databases

TCDBⁱ	8.A.85.1.3 the guanylate cyclase (gc) family

TCDBⁱ

8.A.85.1.3 the guanylate cyclase (gc) family

PTM databases

iPTMnetⁱ	Q02846
PhosphoSitePlusⁱ	Q02846

Polymorphism and mutation databases

BioMutaⁱ	GUCY2D
DMDMⁱ	1345920

Proteomic databases

MaxQBⁱ	Q02846
PaxDbⁱ	Q02846
PeptideAtlasⁱ	Q02846
PRIDEⁱ	Q02846
ProteomicsDBⁱ	58131

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	3000
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000254854; ENSP00000254854; ENSG00000132518
GeneIDⁱ	3000
KEGGⁱ	hsa:3000
UCSCⁱ	uc002gjt.3 human

Organism-specific databases

CTDⁱ	3000
DisGeNETⁱ	3000
EuPathDBⁱ	HostDB:ENSG00000132518.6
GeneCardsⁱ	GUCY2D
GeneReviewsⁱ	GUCY2D
HGNCⁱ	HGNC:4689 GUCY2D
MalaCardsⁱ	GUCY2D
MIMⁱ	204000 phenotype 215500 phenotype 600179 gene 601777 phenotype
neXtProtⁱ	NX_Q02846
OpenTargetsⁱ	ENSG00000132518
Orphanetⁱ	75377 Central areolar choroidal dystrophy 1872 Cone rod dystrophy 65 Leber congenital amaurosis
PharmGKBⁱ	PA187
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1023 Eukaryota COG2114 LUCA
GeneTreeⁱ	ENSGT00760000118959
HOGENOMⁱ	HOG000293307
HOVERGENⁱ	HBG098487
InParanoidⁱ	Q02846
KOⁱ	K12321
OMAⁱ	QVPGFCG
OrthoDBⁱ	EOG091G00VM
PhylomeDBⁱ	Q02846
TreeFamⁱ	TF106338

Enzyme and pathway databases

BRENDAⁱ	4.6.1.2 2681
Reactomeⁱ	R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade

Miscellaneous databases

GenomeRNAiⁱ	3000
Protein Ontology More...PROⁱ	PR:Q02846
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000132518 Expressed in 62 organ(s), highest expression level in esophagus mucosa
CleanExⁱ	HS_GUCY2D
Genevisibleⁱ	Q02846 HS

Family and domain databases

Gene3Dⁱ	3.30.70.1230, 1 hit
InterProⁱ	View protein in InterPro IPR001054 A/G_cyclase IPR018297 A/G_cyclase_CS IPR001828 ANF_lig-bd_rcpt IPR011645 HNOB_dom_associated IPR011009 Kinase-like_dom_sf IPR029787 Nucleotide_cyclase IPR028082 Peripla_BP_I IPR000719 Prot_kinase_dom IPR001245 Ser-Thr/Tyr_kinase_cat_dom
Pfamⁱ	View protein in Pfam PF01094 ANF_receptor, 1 hit PF00211 Guanylate_cyc, 1 hit PF07701 HNOBA, 1 hit PF07714 Pkinase_Tyr, 1 hit
SMARTⁱ	View protein in SMART SM00044 CYCc, 1 hit
SUPFAMⁱ	SSF53822 SSF53822, 1 hit SSF55073 SSF55073, 1 hit SSF56112 SSF56112, 1 hit
PROSITEⁱ	View protein in PROSITE PS00452 GUANYLATE_CYCLASE_1, 1 hit PS50125 GUANYLATE_CYCLASE_2, 1 hit PS50011 PROTEIN_KINASE_DOM, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	GUC2D_HUMAN
Accessionⁱ	Q02846Primary (citable) accession number: Q02846 Secondary accession number(s): Q6LEA7
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
	Last sequence update:	February 1, 1996
	Last modified:	November 7, 2018
	This is version 203 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human and mouse protein kinases
Human and mouse protein kinases: classification and index

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UniProtKB - Q02846 (GUC2D_HUMAN)

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Retinal guanylyl cyclase 1

GUCY2D

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

Nucleus

Plasma Membrane

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

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Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ