| Type | Description |
|---|---|
| Definition | guanylate cyclase 2D, retinal |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:16:00 | Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function. | 33670772 |
| 2021-03-28 19:07:00 | GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness. | 33109612 |
| 2021-01-16 15:54:00 | Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase. | 32493772 |
| 2020-11-21 13:18:00 | Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. | 32976546 |
| 2020-07-11 11:51:00 | Study in family with Leber congenital amaurosis 1 (LCA1) was recruited from China found three novel mutations (c.139delC, p.Ala49Profs*36; c.835G>A, p.Asp279Asn and c.2783G>A, p.Gly928Glu) in the GUCY2D gene. | 32255808 |
| Type | IDs |
|---|---|
| Synonymous | CACD1, CORD5, CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC |
| Gene |
UniProtKB-ID:
GUC2D_HUMAN
UniprotKB:
Q02846
UniParc:
UPI0000128C1C
EMBL:
M92432,
AJ222657,
L26921
Ensembl:
ENSG00000132518
KO:
hsa:3000
|
| Nucleutide sequences |
EMBL-CDS:
AAA60547.1,
CAA10914.1,
AAA60366.1
Ensembl_TRS:
ENST00000254854
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000254854
RefSeq:
XP_011522118.1,
NP_000171.1
|
| Others |
UniRef100:
UniRef100_Q02846
UniRef90:
UniRef90_Q02846
UniRef50:
UniRef50_Q02846
UniGene:
Hs.592109
CCDS:
CCDS11127.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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