GUCA1B
Guanylate Cyclase Activator 1B
Gene Information Card
| Symbol | GUCA1B |
|---|---|
| Full Name | Guanylate Cyclase Activator 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 2979 ncbi.nlm.nih.gov/gene/2979 |
| Ensembl ID | ENSG00000112599 |
| UniProt ID | Q9UMX6 |
| OMIM ID | 602275 |
| HGNC ID | 4679 |
| Aliases | GCAP2, GUCA2, GCAP, GUCA1B |
Description
GUCA1B encodes guanylate cyclase activator 1B (GCAP2), a member of the guanylate cyclase-activating protein family. GCAP2 is a calcium-binding protein expressed in photoreceptor cells that regulates retinal guanylate cyclase activity in a calcium-dependent manner, playing a critical role in phototransduction and recovery of the dark state after light stimulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone dystrophy 3 (COD3) | Missense mutations in GUCA1B impair GCAP2 function, leading to dysregulation of cGMP synthesis and photoreceptor degeneration. | ClinVar, OMIM |
| Macular dystrophy, retinal | Altered calcium sensitivity of GCAP2 disrupts phototransduction recovery, contributing to macular degeneration. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | Tissue-specific |
| Brain | Low | Non-specific |
| Testis | Low | Non-specific |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | Not expressed | Retinal pigment epithelium cell line |
| HEK293 | Not expressed | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.299G>A (p.Arg100Gln) | Missense | Rare | Impaired calcium-dependent activation of guanylate cyclase |
| c.451C>T (p.Pro151Ser) | Missense | Rare | Altered protein stability and function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce GCAP2 ability to activate guanylate cyclase, leading to impaired phototransduction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some mutations may interfere with wild-type GCAP2 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • phototransduction |
| • visual perception | • receptor guanylyl cyclase signaling pathway |
| • photoreceptor cell maintenance |
Pathways
• Phototransduction cascade
• cGMP-PKG signaling pathway
Protein Summary
GCAP2 is a 23 kDa calcium-binding protein with four EF-hand motifs. It is localized in photoreceptor outer segments and modulates retinal guanylate cyclase activity in response to changes in intracellular calcium levels, essential for light adaptation and recovery.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GUCA1B Knockout HEK293 Cell Line | EDJ-KQ4817 | Human | 2979 | Details Get a Quote |
| GUCA1B Knockout HCT 116 Cell Line | EDJ-KQ27595 | Human | 2979 | Details Get a Quote |
| GUCA1B Knockout HeLa Cell Line | EDJ-KQ53457 | Human | 2979 | Details Get a Quote |
| GUCA1B Knockout A-549 Cell Line | EDJ-KQ61930 | Human | 2979 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
