| Type | Description |
|---|---|
| Definition | ATP binding cassette subfamily A member 4 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:32:00 | Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing. | 31968401 |
| 2021-03-27 14:40:00 | Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. | 32244552 |
| 2021-03-13 13:21:00 | Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease. | 33024232 |
| 2021-03-13 13:15:00 | Cycloplegic refractions in a cohort with ABCA4-related retinopathy. | 32013674 |
| 2021-02-27 13:45:00 | Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. | 32815999 |
| Type | IDs |
|---|---|
| Synonymous | ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1 |
| Gene |
UniProtKB-ID:
ABCA4_HUMAN,
Q6AI28_HUMAN
UniprotKB:
P78363,
Q6AI28
UniParc:
UPI0000401FB6,
UPI000012511C
EMBL:
Y15661,
Y15678,
Y15664,
Y15677,
Y15650,
Y15662,
Y15672,
Y15670,
Y15679,
Y15642,
Y15683,
DQ426859,
Y15640,
Y15673,
Y15667,
Y15658,
Y15676,
AF001945,
Y15654,
Y15646,
AF000148,
AC093579,
Y15655,
Y15635,
Y15663,
U88667,
Y15652,
Y15637,
Y15651,
Y15638,
Y15669,
Y15648,
Y15666,
Y15644,
Y15674,
Y15681,
Y15649,
Y15657,
CR627391,
Y15639,
Y15675,
Y15656,
Y15643,
Y15682,
Y15647,
Y15665,
Y15680,
Y15660,
Y15684,
Y15659,
Y15641,
AC105278,
Y15671,
AB210040,
Y15636,
Y15668,
Y15653,
Y15645
Ensembl:
ENSG00000198691
KO:
hsa:24
|
| Nucleutide sequences |
EMBL-CDS:
AAC51144.1,
BAE06122.1,
CAA75729.1,
AAC05632.1,
ABD90529.1,
AAC23915.1,
CAH10486.1
Ensembl_TRS:
ENST00000370225
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359245
RefSeq:
NP_000341.2
|
| Others |
UniRef100:
UniRef100_P78363,
UniRef100_Q6AI28
UniRef90:
UniRef90_Q6AI28,
UniRef90_P78363
UniRef50:
UniRef50_P78363,
UniRef50_A0A2I3H6H5
UniGene:
Hs.416707
CCDS:
CCDS747.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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