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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2979
Gene name	Guanylate cyclase activator 1B
Gene symbol	GUCA1B
Synonyms (NCBI Gene)	GCAP 2GCAP-2GCAP-IIGCAP2GUCA2RP48
Chromosome	6
Chromosome location	6p21.1
Summary	The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in t

197

Show/Hide all (197)

miRTarBase ID	miRNA	Experiments	Reference
MIRT621357	hsa-miR-4311	HITS-CLIP	23824327
MIRT621356	hsa-miR-1276	HITS-CLIP	23824327
MIRT621355	hsa-miR-583	HITS-CLIP	23824327
MIRT621354	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT621353	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT621352	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621351	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT621350	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT621364	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT621361	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621363	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT621362	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT621361	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621360	hsa-miR-6802-3p	HITS-CLIP	23824327
MIRT621359	hsa-miR-5096	HITS-CLIP	23824327
MIRT621358	hsa-miR-1303	HITS-CLIP	23824327
MIRT621357	hsa-miR-4311	HITS-CLIP	23824327
MIRT621356	hsa-miR-1276	HITS-CLIP	23824327
MIRT621355	hsa-miR-583	HITS-CLIP	23824327
MIRT621354	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT621353	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT621352	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621351	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT621350	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT621357	hsa-miR-4311	HITS-CLIP	23824327
MIRT621356	hsa-miR-1276	HITS-CLIP	23824327
MIRT621355	hsa-miR-583	HITS-CLIP	23824327
MIRT621354	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT621353	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT621352	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621351	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT621350	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT621364	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT621361	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621363	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT621362	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT621361	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621360	hsa-miR-6802-3p	HITS-CLIP	23824327
MIRT621359	hsa-miR-5096	HITS-CLIP	23824327
MIRT621358	hsa-miR-1303	HITS-CLIP	23824327
MIRT621357	hsa-miR-4311	HITS-CLIP	23824327
MIRT621356	hsa-miR-1276	HITS-CLIP	23824327
MIRT621355	hsa-miR-583	HITS-CLIP	23824327
MIRT621354	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT621353	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT621352	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621351	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT621350	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT1038341	hsa-miR-106a	CLIP-seq
MIRT1038342	hsa-miR-106b	CLIP-seq
MIRT1038343	hsa-miR-1193	CLIP-seq
MIRT1038344	hsa-miR-1234	CLIP-seq
MIRT1038345	hsa-miR-150	CLIP-seq
MIRT1038346	hsa-miR-17	CLIP-seq
MIRT1038347	hsa-miR-1913	CLIP-seq
MIRT1038348	hsa-miR-1976	CLIP-seq
MIRT1038349	hsa-miR-20a	CLIP-seq
MIRT1038350	hsa-miR-20b	CLIP-seq
MIRT1038351	hsa-miR-2392	CLIP-seq
MIRT1038352	hsa-miR-302a	CLIP-seq
MIRT1038353	hsa-miR-302b	CLIP-seq
MIRT1038354	hsa-miR-302c	CLIP-seq
MIRT1038355	hsa-miR-302d	CLIP-seq
MIRT1038356	hsa-miR-302e	CLIP-seq
MIRT1038357	hsa-miR-3152-3p	CLIP-seq
MIRT1038358	hsa-miR-3152-5p	CLIP-seq
MIRT1038359	hsa-miR-3180-5p	CLIP-seq
MIRT1038360	hsa-miR-324-3p	CLIP-seq
MIRT1038361	hsa-miR-372	CLIP-seq
MIRT1038362	hsa-miR-373	CLIP-seq
MIRT1038363	hsa-miR-4307	CLIP-seq
MIRT1038364	hsa-miR-4438	CLIP-seq
MIRT1038365	hsa-miR-4662a-5p	CLIP-seq
MIRT1038366	hsa-miR-4676-5p	CLIP-seq
MIRT1038367	hsa-miR-4707-3p	CLIP-seq
MIRT1038368	hsa-miR-4731-5p	CLIP-seq
MIRT1038369	hsa-miR-4753-3p	CLIP-seq
MIRT1038370	hsa-miR-5095	CLIP-seq
MIRT1038371	hsa-miR-512-3p	CLIP-seq
MIRT1038372	hsa-miR-519d	CLIP-seq
MIRT1038373	hsa-miR-520a-3p	CLIP-seq
MIRT1038374	hsa-miR-520b	CLIP-seq
MIRT1038375	hsa-miR-520c-3p	CLIP-seq
MIRT1038376	hsa-miR-520d-3p	CLIP-seq
MIRT1038377	hsa-miR-520e	CLIP-seq
MIRT1038378	hsa-miR-520g	CLIP-seq
MIRT1038379	hsa-miR-520h	CLIP-seq
MIRT1038380	hsa-miR-575	CLIP-seq
MIRT1038381	hsa-miR-93	CLIP-seq
MIRT1038341	hsa-miR-106a	CLIP-seq
MIRT1038342	hsa-miR-106b	CLIP-seq
MIRT1038344	hsa-miR-1234	CLIP-seq
MIRT2007839	hsa-miR-1267	CLIP-seq
MIRT2007840	hsa-miR-1323	CLIP-seq
MIRT2007841	hsa-miR-135a	CLIP-seq
MIRT2007842	hsa-miR-135b	CLIP-seq
MIRT1038345	hsa-miR-150	CLIP-seq
MIRT1038346	hsa-miR-17	CLIP-seq
MIRT1038347	hsa-miR-1913	CLIP-seq
MIRT2007843	hsa-miR-1915	CLIP-seq
MIRT1038348	hsa-miR-1976	CLIP-seq
MIRT2007844	hsa-miR-204	CLIP-seq
MIRT1038349	hsa-miR-20a	CLIP-seq
MIRT1038350	hsa-miR-20b	CLIP-seq
MIRT2007845	hsa-miR-21	CLIP-seq
MIRT2007846	hsa-miR-211	CLIP-seq
MIRT1038352	hsa-miR-302a	CLIP-seq
MIRT1038353	hsa-miR-302b	CLIP-seq
MIRT1038354	hsa-miR-302c	CLIP-seq
MIRT1038355	hsa-miR-302d	CLIP-seq
MIRT1038356	hsa-miR-302e	CLIP-seq
MIRT2007847	hsa-miR-3074-5p	CLIP-seq
MIRT2007848	hsa-miR-3190	CLIP-seq
MIRT2007849	hsa-miR-3192	CLIP-seq
MIRT2007850	hsa-miR-3199	CLIP-seq
MIRT1038360	hsa-miR-324-3p	CLIP-seq
MIRT2007851	hsa-miR-3652	CLIP-seq
MIRT1038361	hsa-miR-372	CLIP-seq
MIRT1038362	hsa-miR-373	CLIP-seq
MIRT2007852	hsa-miR-4258	CLIP-seq
MIRT2007853	hsa-miR-4287	CLIP-seq
MIRT2007854	hsa-miR-4430	CLIP-seq
MIRT1038364	hsa-miR-4438	CLIP-seq
MIRT2007855	hsa-miR-4505	CLIP-seq
MIRT2007856	hsa-miR-4685-3p	CLIP-seq
MIRT1038367	hsa-miR-4707-3p	CLIP-seq
MIRT2007857	hsa-miR-4726-3p	CLIP-seq
MIRT1038368	hsa-miR-4731-5p	CLIP-seq
MIRT2007858	hsa-miR-4752	CLIP-seq
MIRT1038370	hsa-miR-5095	CLIP-seq
MIRT1038371	hsa-miR-512-3p	CLIP-seq
MIRT2007859	hsa-miR-514	CLIP-seq
MIRT2007860	hsa-miR-514b-3p	CLIP-seq
MIRT1038372	hsa-miR-519d	CLIP-seq
MIRT1038373	hsa-miR-520a-3p	CLIP-seq
MIRT1038374	hsa-miR-520b	CLIP-seq
MIRT1038375	hsa-miR-520c-3p	CLIP-seq
MIRT1038376	hsa-miR-520d-3p	CLIP-seq
MIRT1038377	hsa-miR-520e	CLIP-seq
MIRT1038378	hsa-miR-520g	CLIP-seq
MIRT1038379	hsa-miR-520h	CLIP-seq
MIRT2007861	hsa-miR-548o	CLIP-seq
MIRT2007862	hsa-miR-590-5p	CLIP-seq
MIRT1038381	hsa-miR-93	CLIP-seq
MIRT2007863	hsa-miR-941	CLIP-seq
MIRT1038343	hsa-miR-1193	CLIP-seq
MIRT2240498	hsa-miR-1200	CLIP-seq
MIRT2240499	hsa-miR-1208	CLIP-seq
MIRT2240500	hsa-miR-122	CLIP-seq
MIRT2007841	hsa-miR-135a	CLIP-seq
MIRT2007842	hsa-miR-135b	CLIP-seq
MIRT1038347	hsa-miR-1913	CLIP-seq
MIRT2240501	hsa-miR-197	CLIP-seq
MIRT1038348	hsa-miR-1976	CLIP-seq
MIRT2007844	hsa-miR-204	CLIP-seq
MIRT2007845	hsa-miR-21	CLIP-seq
MIRT2007846	hsa-miR-211	CLIP-seq
MIRT1038351	hsa-miR-2392	CLIP-seq
MIRT2240502	hsa-miR-3135b	CLIP-seq
MIRT1038357	hsa-miR-3152-3p	CLIP-seq
MIRT1038358	hsa-miR-3152-5p	CLIP-seq
MIRT2007848	hsa-miR-3190	CLIP-seq
MIRT2007849	hsa-miR-3192	CLIP-seq
MIRT2007850	hsa-miR-3199	CLIP-seq
MIRT1038360	hsa-miR-324-3p	CLIP-seq
MIRT2007851	hsa-miR-3652	CLIP-seq
MIRT2240503	hsa-miR-3938	CLIP-seq
MIRT2240504	hsa-miR-412	CLIP-seq
MIRT2240505	hsa-miR-4324	CLIP-seq
MIRT2007854	hsa-miR-4430	CLIP-seq
MIRT1038364	hsa-miR-4438	CLIP-seq
MIRT2240506	hsa-miR-4452	CLIP-seq
MIRT2007855	hsa-miR-4505	CLIP-seq
MIRT2240507	hsa-miR-4645-5p	CLIP-seq
MIRT1038365	hsa-miR-4662a-5p	CLIP-seq
MIRT2240508	hsa-miR-4673	CLIP-seq
MIRT1038366	hsa-miR-4676-5p	CLIP-seq
MIRT2240509	hsa-miR-4680-3p	CLIP-seq
MIRT1038367	hsa-miR-4707-3p	CLIP-seq
MIRT2007858	hsa-miR-4752	CLIP-seq
MIRT1038369	hsa-miR-4753-3p	CLIP-seq
MIRT2240510	hsa-miR-4755-5p	CLIP-seq
MIRT1038370	hsa-miR-5095	CLIP-seq
MIRT2240511	hsa-miR-544b	CLIP-seq
MIRT1038380	hsa-miR-575	CLIP-seq
MIRT2007862	hsa-miR-590-5p	CLIP-seq
MIRT2240512	hsa-miR-623	CLIP-seq
MIRT2007841	hsa-miR-135a	CLIP-seq
MIRT2007842	hsa-miR-135b	CLIP-seq
MIRT2007845	hsa-miR-21	CLIP-seq
MIRT2007848	hsa-miR-3190	CLIP-seq
MIRT2007849	hsa-miR-3192	CLIP-seq
MIRT2007851	hsa-miR-3652	CLIP-seq
MIRT2007854	hsa-miR-4430	CLIP-seq
MIRT2007855	hsa-miR-4505	CLIP-seq
MIRT2007858	hsa-miR-4752	CLIP-seq
MIRT2007862	hsa-miR-590-5p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IBA
GO:0001917	Component	Photoreceptor inner segment	IDA	9620085
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	TAS	1327879
GO:0007267	Process	Cell-cell signaling	TAS	1409606
GO:0007589	Process	Body fluid secretion	TAS	1327879
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007602	Process	Phototransduction	IEA
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	IBA
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	IEA
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	TAS	1409606
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0030249	Function	Guanylate cyclase regulator activity	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0120199	Component	Cone photoreceptor outer segment	IBA
GO:0120199	Component	Cone photoreceptor outer segment	IDA	9620085

MIM	HGNC	e!Ensembl
602275	4679	ENSG00000112599

Q9UMX6

Protein name

Guanylyl cyclase-activating protein 2 (GCAP 2) (Guanylate cyclase activator 1B)

Protein function

Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated (By similarity). This Ca(2+)-sensitive regulation of GC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13202	EF-hand_5	58 → 83	EF hand	Domain
PF13499	EF-hand_7	91 → 171	EF-hand domain pair	Domain

Tissue specificity

TISSUE SPECIFICITY: In the retina, it is expressed in cone and rod photoreceptor cells. {ECO:0000269|PubMed:9620085}.

Sequence

MGQEFSWEEAEAAGEIDVAELQEWYKKFVMECPSGTLFMHEFKRFFKVTDDEEASQYVEG
MFRAFDKNGDNTIDFLEYVAALNLVLRGTLEHKLKWTFKIYDKDGNGCIDRLELLNIVEG
IYQLKKACRRELQTEQGQLLTPEEVVDRIFLLVDENGDGQLSLNEFVEGARRDKWVMKML
QMDMNPSSWLAQQRRKSAMF

Sequence length

200

Interactions

View interactions

	KEGG		Reactome
	Phototransduction		Inactivation, recovery and regulation of the phototransduction cascade

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Leber congenital amaurosis	Uncertain significance	rs587783025	RCV000144479
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs771976584, rs564752140, rs555181489, rs746910924, rs121909124, rs200394928, rs3749921, rs149820788, rs2546724557, rs781279689, rs150562239, rs377415238, rs117959899, rs202229506	RCV004815457 RCV003888340 RCV003888923 RCV003889085 RCV003887857 RCV004816493 RCV003888841 RCV003888842 RCV003890996 RCV003890998 RCV004814994 RCV003890217 RCV003890333 RCV003890334
Retinitis pigmentosa	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs137853903, rs548960052, rs548674194, rs144675650, rs886061398, rs139923590, rs145820031, rs45569036, rs114197333, rs183630773, rs886061394, rs886061395, rs886061397, rs3749921, rs149820788 View all (28 more)	RCV000352718 RCV000271742 RCV000374234 RCV000334853 RCV000384067 RCV000404958 RCV000297862 RCV000332341 RCV000389170 RCV000311484 RCV000393296 RCV000262426 RCV000341086 RCV000397401 RCV000313036 RCV000263693 RCV000354775 RCV000273785 RCV000281560 RCV000373074 RCV000303028 RCV000283718 RCV000290990 RCV000314388 RCV000356087 RCV000266965 RCV001161727 RCV001163254 RCV001163257 RCV001165352 RCV001158620 RCV001158622 RCV001158625 RCV001161839 RCV001161840 RCV001161843 RCV001163363 RCV001163364 RCV001163365 RCV001163655 RCV001163656 RCV001163657 RCV001163658
Retinitis pigmentosa 48	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs769924304, rs137853903, rs1187293594, rs121909124, rs3749921, rs1474867	RCV004576987 RCV001000638 RCV003333806 RCV000007794 RCV001702631 RCV001702527
Retinitis Pigmentosa, Dominant	Uncertain significance	rs779998898	RCV000323473

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Diabetic Retinopathy	Associate	37318461
Retinal Cone Dystrophy 1	Associate	9651312
Retinal Degeneration	Associate	33812995
Retinal Detachment	Associate	37761846
Retinal Dystrophies	Associate	33812995

GUCA1B (guanylate cyclase activator 1B)