| Type | Description |
|---|---|
| Definition | calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-29 10:05:00 | We find that increasing the expression of Cav at the synaptic membrane is an evolutionarily conserved function of Cacna2d4b. Yet, since both paralogs participate in cone synaptic transmission, we propose partial subfunctionalization in zebrafish. Similar to human patients, our double KO zebrafish model shows mild cone dysfunction, which was not associated with signs of retinal degeneration. | 31834350 |
| 2018-06-30 11:38:00 | We have confirmed the TRPM1 36,445 bp deletion is a founder mutation in the Ashkenazi-Jewish (AJ) population with a carrier rate of 1 in 50. We have also confirmed the 35,741 bp deletion in the CACNA2D4 gene is a founder mutation in the AJ population with a carrier rate of 1 in 56. | 28726569 |
| 2016-07-16 11:01:00 | This report describes a distinctive ERG phenotype, predominantly involving the cone pathways, in 2 unrelated patients from different ethnic backgrounds with homozygous mutations in CACNA2D4 and normal retinal imaging | 26560832 |
| 2012-09-08 10:59:00 | A rare, partial deletion of 35.7 kb in CACNA2D4 in two unrelated late onset bipolar I patients and in one control individual, were identified. | 22488967 |
| 2010-06-30 22:05:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | RCD4 |
| Gene |
UniProtKB-ID:
CA2D4_HUMAN
UniprotKB:
Q7Z3S7
UniParc:
UPI0001D14730,
UPI0000E593D9,
UPI0001D14732,
UPI0001AE6A87,
UPI0001D14731,
UPI00026C464D
EMBL:
AF516695,
BC048288,
BX537437,
AC005343,
BX537436,
AC005342
Ensembl:
ENSG00000284953,
ENSG00000151062
KO:
hsa:93589
|
| Nucleutide sequences |
EMBL-CDS:
CAD97678.1,
AAN06672.1,
CAD97679.1,
AAH48288.1
Ensembl_TRS:
ENST00000642910,
ENST00000585708,
ENST00000645225,
ENST00000588077,
ENST00000586184,
ENST00000644981,
ENST00000382722,
ENST00000645018,
ENST00000545595,
ENST00000646498
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000494395,
ENSP00000467697,
ENSP00000468530,
ENSP00000494565,
ENSP00000495256,
ENSP00000465060,
ENSP00000493490,
ENSP00000442329,
ENSP00000494913,
ENSP00000372169
RefSeq:
NP_758952.4,
XP_011519343.1
|
| Others |
UniRef100:
UniRef100_Q7Z3S7
UniRef90:
UniRef90_Q7Z3S7
UniRef50:
UniRef50_Q7Z3S7
UniGene:
Hs.13768
CCDS:
CCDS44785.1
|
| {{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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