| Type | Description |
|---|---|
| Definition | cyclic nucleotide gated channel beta 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-28 12:59:00 | Mutations in CNGB1 may cause an autosomal recessive retinitis pigmentosa-olfactory dysfunction syndrome characterized by a slow progression of retinal degeneration and variable anosmia or hyposmia. | 29800053 |
| 2019-09-28 12:51:00 | The c.385delC (p.(L129WfsTer148)) mutation in the CNGB1 gene screened by exome sequencing is probably responsible for the retinitis pigmentosa phenotype in this family. | 30451805 |
| 2019-05-11 10:53:00 | Patients and animal models of CNGbeta1-deficient retinitis pigmentosa support gene augmentation approach. | 29202463 |
| 2017-11-18 11:48:00 | Here, we present the first case of RP45 caused by an unequivocal homozygous nonsense variant of CNGB1 identified by run of homozygosity (ROH) analysis. | 26901671 |
| 2016-07-16 11:28:00 | Helios, and not FoxP3, is the marker of activated Tregs expressing and FoxP3+Helios+ Tregs have more suppressive characteristics, compared with FoxP3+Helios- Tregs. | 26343373 |
| Type | IDs |
|---|---|
| Synonymous | CNCG2, CNCG3L, CNCG4, CNG4, CNGB1B, GAR1, GARP, GARP2, RCNC2, RCNCb, RCNCbeta, RP45 |
| Gene |
UniProtKB-ID:
CNGB1_HUMAN
UniprotKB:
Q14028
UniParc:
UPI0001B04BA1,
UPI0000366B4D,
UPI000013F117,
UPI000013CCDF
EMBL:
U18945,
AC010543,
L15297,
U58837,
CH471092,
AF042498,
L15296
Ensembl:
ENSG00000070729
KO:
hsa:1258
|
| Nucleutide sequences |
EMBL-CDS:
EAW82957.1,
AAA65620.1,
AAA65619.1,
AAA91633.1,
AAC04830.1,
AAB63387.1
Ensembl_TRS:
ENST00000564448,
ENST00000311183,
ENST00000251102
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000454633,
ENSP00000311670,
ENSP00000251102
RefSeq:
XP_011521172.1,
NP_001273059.1,
NP_001288.3,
NP_001129111.1
|
| Others |
UniRef100:
UniRef100_Q14028
UniRef90:
UniRef90_Q14028
UniRef50:
UniRef50_Q14028
UniGene:
Hs.147062
CCDS:
CCDS45495.1,
CCDS42169.1,
CCDS67042.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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