Gene Gene information from NCBI Gene database.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602275 4679 ENSG00000112599
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
MFRAFDKNGDNTIDFLEYVAALN
LVLRGTLEHKLKWTFKIYDKDGNGCIDRLELLNIVEG
IYQLKKACRRELQTEQGQLLTPEEVVDRIFLLVDENGDGQLSLNEFVEGAR
RDKWVMKML
QMDMNPSSWLAQQRRKSAMF
Sequence length 200
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Phototransduction   Inactivation, recovery and regulation of the phototransduction cascade
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONE DYSTROPHY 3 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Retinal dystrophy Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Conductive hearing loss Hearing Loss HPO_DG
★☆☆☆☆
Found in Text Mining only
Cone Dystrophy Cone Dystrophy BEFREE 21405999
★☆☆☆☆
Found in Text Mining only
Cone-Rod Dystrophies Cone-rod dystrophy BEFREE 10430891, 21405999
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2 Cone-rod dystrophy BEFREE 21405999
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of penis Congenital Hypoplasia Of Penis HPO_DG
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 31424985
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus HPO_DG
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic retinopathy Pubtator 37318461 Associate
★☆☆☆☆
Found in Text Mining only
Diffuse Large B-Cell Lymphoma Diffuse Lymphoma BEFREE 10694514
★☆☆☆☆
Found in Text Mining only