GUCA1B (guanylate cyclase activator 1B)

2014-11-01 Affiliation

Identity

HGNC

GUCA1B

LOCATION

6p21.1

LOCUSID

2979

ALIAS

GCAP 2,GCAP2,GUCA2,RP48

FUSION GENES

Show Gene Fusions

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Phototransduction	KEGG	ko04744
Phototransduction	KEGG	hsa04744
Signal Transduction	REACTOME	R-HSA-162582
Visual phototransduction	REACTOME	R-HSA-2187338
The phototransduction cascade	REACTOME	R-HSA-2514856
Inactivation, recovery and regulation of the phototransduction cascade	REACTOME	R-HSA-2514859

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/favicon/tumors-explorer/