Identity
HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
GCAP 2,GCAP2,GUCA2,RP48
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2979
MIM: 602275
HGNC: 4679
Ensembl: ENSG00000112599
Variants:
dbSNP: 2979
ClinVar: 2979
TCGA: ENSG00000112599
COSMIC: GUCA1B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112599 | ENST00000230361 | Q9UMX6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33812995 | 2021 | Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R. | 7 |
| 33812995 | 2021 | Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R. | 7 |
| 28361875 | 2017 | Label-free quantification of calcium-sensor targeting to photoreceptor guanylate cyclase and rhodopsin kinase by backscattering interferometry. | 8 |
| 28361875 | 2017 | Label-free quantification of calcium-sensor targeting to photoreceptor guanylate cyclase and rhodopsin kinase by backscattering interferometry. | 8 |
| 25616661 | 2015 | Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs). | 28 |
| 26100624 | 2015 | Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface. | 22 |
| 25616661 | 2015 | Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs). | 28 |
| 26100624 | 2015 | Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface. | 22 |
| 21405999 | 2011 | Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. | 7 |
| 21405999 | 2011 | Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. | 7 |
| 15452722 | 2005 | Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. | 27 |
| 15452722 | 2005 | Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. | 27 |
| 15452722 | 2005 | Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. | 27 |
| 15452722 | 2005 | Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. | 27 |
| 15505030 | 2004 | A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. | 42 |
Citation
Dessen P
GUCA1B (guanylate cyclase activator 1B)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64112/guca1b-(guanylate-cyclase-activator-1b)
