| Type | Description |
|---|---|
| Definition | calcium binding protein 4 |
| Date | Results | Publications |
|---|---|---|
| 2018-07-28 12:01:00 | CABP4-related retinal disease is a cone-rod system disorder with possible foveal abnormalities. | 29525873 |
| 2017-12-02 11:57:00 | Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up. | 28635425 |
| 2017-11-18 13:33:00 | In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene. | 27428514 |
| 2017-06-24 10:54:00 | Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. | 28002560 |
| 2013-11-23 11:40:00 | we found a homozygous compound mutation in the CABP4 gene in 3 patients with congenital stationary night blindess 2. | 23714322 |
| Type | IDs |
|---|---|
| Synonymous | CRSD, CSNB2B |
| Gene |
UniProtKB-ID:
CABP4_HUMAN,
A0A024R5K4_HUMAN
UniprotKB:
P57796,
A0A024R5K4
UniParc:
UPI000007081F,
UPI0000126D68
EMBL:
AC005849,
BC033167,
AY039217,
CH471076
Ensembl:
ENSG00000175544
KO:
hsa:57010
|
| Nucleutide sequences |
EMBL-CDS:
AAK83462.1,
AAH33167.1,
EAW74629.1,
EAW74630.1,
EAW74628.1
Gene_ORFName:
hCG_1639764
Ensembl_TRS:
ENST00000325656,
ENST00000438189
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000401555,
ENSP00000324960
RefSeq:
XP_016873514.1,
XP_024304384.1,
NP_660201.1,
NP_001287824.1,
NP_001287825.1,
XP_011543485.1,
XP_024304383.1,
XP_011543484.1,
XP_011543483.1,
XP_005274171.2,
NP_001366112.1
|
| Others |
UniRef100:
UniRef100_A0A024R5K4,
UniRef100_P57796
UniRef90:
UniRef90_P57796,
UniRef90_A0A2I2YR36
UniRef50:
UniRef50_Q8VHC5,
UniRef50_A0A2I2YR36
UniGene:
Hs.143036
CCDS:
CCDS8166.1,
CCDS73333.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员