Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2978
Gene name Gene Name - the full gene name approved by the HGNC.
Guanylate cyclase activator 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GUCA1A
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf131, COD3, CORD14, GCAP, GCAP-1, GCAP-I, GCAP1, GUCA, GUCA1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
COD3, CORD14
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentration
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1038328 hsa-miR-2110 CLIP-seq
MIRT1038329 hsa-miR-3153 CLIP-seq
MIRT1038330 hsa-miR-320a CLIP-seq
MIRT1038331 hsa-miR-320b CLIP-seq
MIRT1038332 hsa-miR-320c CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001917 Component Photoreceptor inner segment IDA 9620085
GO:0005509 Function Calcium ion binding ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0007165 Process Signal transduction NAS 7983048
GO:0007601 Process Visual perception IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600364 4678 ENSG00000048545
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Central areolar choroidal dystrophy Central areolar choroidal dystrophy rs1761914145, rs1400806789
Cone dystrophy CONE DYSTROPHY 3 (disorder), Progressive cone dystrophy rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709
View all (28 more)
15735604, 15505030, 15790869, 11484154, 11146732, 9425234, 11108966, 19459154
Cone-rod dystrophy Cone-Rod Dystrophy 2, Cone rod dystrophy, Cone-Rod Dystrophies rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209
View all (207 more)
23428504, 26992781
Macular dystrophy Macular dystrophy rs80338903, rs267606875, rs137853006, rs62635654, rs104893967, rs61755793, rs62625014, rs724159985, rs398122391, rs1800728, rs61755810, rs61755814, rs61748556, rs61751263, rs61751402
View all (42 more)
9425234, 30718709
Unknown
Disease term Disease name Evidence References Source
Cone Dystrophy cone dystrophy 3, cone-rod dystrophy, cone dystrophy GenCC
Central Areolar Choroidal Dystrophy central areolar choroidal dystrophy GenCC
Associations from Text Mining
Disease Name Relationship Type References
Atrophy Associate 31728034
Cone Dystrophy Associate 10507726, 15735604, 18706439, 19459154, 20213926, 28442884, 31728034, 33919796, 34639157, 9651312
Cone Rod Dystrophies Associate 10430891, 15790869, 24024198, 24352742, 28442884, 29555955, 30622141, 31728034, 31979372, 32650103
Genetic Diseases Inborn Associate 38453143
Hearing Loss Functional Associate 15790869
Hypertensive Retinopathy Associate 30622141
Ichthyosis prematurity syndrome Stimulate 29693144
Immunoglobulin G4 Related Disease Associate 24024198
Leber Congenital Amaurosis Associate 20050595, 26100624
Macular Degeneration Associate 28442884