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FLASH GENE

Symbol

GUCA1B

contributors: mct - updated : 26-11-2020

HGNC name	guanylate cyclase activator 1B (retina)
HGNC id	4679

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RP48 retinitis pigmentosa 48
Location	6p21.1      Physical location : 42.151.022 - 42.162.694
Genatlas name	uroguanylin
Synonym name	guanylate cyclase-activating protein 2
Synonym symbol(s)	GCAP2, GUCA2, RP48, DKFZp686E1183

DNA

TYPE	functioning gene
STRUCTURE	11.70 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002098 4 - 2270 NP_002089 - 200 - 2015 25616661

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune thymus         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial         Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	EF-hand Ca2+ binding center
	three region containing specific sequences for regulation of RETGC (GUCY2D)

HOMOLOGY

Homologene

FAMILY

calmodulin family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule

basic FUNCTION	regulating phosphoreceptor membrane guanylyl cyclase RETGC2 in a Ca2+ sensitive manner (but less effective than GCAP1 for stimulating RETGC1)
	neuronal calcium sensors, which confer Ca2+ sensitivity to guanylyl cyclase activity
	playing a role in regulating the photoresponse
	functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution, and are essential for photoreceptor cell integrity
	GUCA1A and GUCA1B (or guanylyl cyclase-activating proteins [GCAPs]) have been identified as important mediators of the photoreceptor response to changes in intracellular Ca2+

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule
	Mg²&
	8314; seems to affect the conformation of GCAP2 both at high and low [Ca²&
	8314;], however the variations are more substantial for myristoylated GCAP2 in the absence of Ca²&
	8314;

protein	both GUCA1A and GUCA1B stimulate GUCY2F equally well at saturation (
	MEF2D is required for the expression of various genes in photoreceptor and bipolar cells, including cone arrestin, GUCA1B, PDE6H and CACNA1S, which encode outer segment and synapse proteins

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RP48

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS