| Type | Description |
|---|---|
| Definition | crystallin beta A4 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-18 11:46:00 | his study provides important reference value when narrowing down the number of pathogenic CRYBA4 nsSNPs and studying the pathogenesis of congenital cataracts. By using this method, we can easily find 44 high-risk pathogenic nsSNPs out of 157 CRYBA4 nsSNPs | 31935276 |
| 2017-09-16 11:11:00 | CRYBA4 duplication and CRYBB1 partial duplication identified in a family with autosomal dominant congenital cataract. | 28272538 |
| 2013-02-23 11:54:00 | rs2009066 located in the crystallin beta A4 (CRYBA4) gene was identified to be the most significantly associated with high myopia. | 22792142 |
| 2010-08-30 11:47:00 | Novel missense mutation in CRYBA4 expands mutation spectrum of CRYBA4 and provides useful information to study of molecular pathogenesis of cataract and microcornea. | 20577656 |
| 2010-01-21 00:00:00 | first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia | 16960806 |
| Type | IDs |
|---|---|
| Synonymous | CTRCT23, CYRBA4, MCOPCT4 |
| Gene |
UniProtKB-ID:
CRBA4_HUMAN,
A0A097PIJ6_HUMAN
UniprotKB:
P53673,
A0A097PIJ6
UniParc:
UPI0000167B21
EMBL:
BC069404,
BC096174,
Z95115,
KM365088,
KM230606,
BC096172,
S67583,
U59057,
CH471095,
CR456424,
BC096171,
KU342019,
BC096173,
KM365089,
KM365090
Ensembl:
ENSG00000196431
KO:
hsa:1413
|
| Nucleutide sequences |
EMBL-CDS:
AAH69404.1,
AAH96173.1,
CAG30310.1,
AAC50970.1,
AAH96171.1,
AAD13994.1,
AAH96174.1,
AAH96172.1,
AIY26924.1,
AMM45326.1,
AIY26926.1,
AIY26925.1,
EAW59731.1,
AIU47349.1
Gene_ORFName:
hCG_41134
Ensembl_TRS:
ENST00000354760
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000346805
RefSeq:
NP_001877.1,
XP_006724203.1
|
| Others |
UniRef100:
UniRef100_P53673
UniRef90:
UniRef90_P53673
UniRef50:
UniRef50_P53673
UniGene:
Hs.57690
CCDS:
CCDS13841.1
|
| {{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