Identity
HGNC
LOCATION
13q14.2
LOCUSID
ALIAS
CLLD7,CLLL7,GLP,RDEOA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55213
MIM: 607867
HGNC: 18243
Ensembl: ENSG00000136144
Variants:
dbSNP: 55213
ClinVar: 55213
TCGA: ENSG00000136144
COSMIC: RCBTB1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000136144 | ENST00000258646 | Q8NDN9 |
| ENSG00000136144 | ENST00000378302 | Q8NDN9 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38679985 | 2024 | Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients. | 0 |
| 38679985 | 2024 | Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients. | 0 |
| 35057699 | 2022 | Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. | 2 |
| 35057699 | 2022 | Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. | 2 |
| 33104391 | 2021 | Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR. | 4 |
| 33624564 | 2021 | Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy. | 5 |
| 33104391 | 2021 | Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR. | 4 |
| 33624564 | 2021 | Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy. | 5 |
| 26908610 | 2016 | Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. | 29 |
| 27166999 | 2016 | Targeting miR-21-3p inhibits proliferation and invasion of ovarian cancer cells. | 52 |
| 27486781 | 2016 | Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. | 12 |
| 26908610 | 2016 | Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. | 29 |
| 27166999 | 2016 | Targeting miR-21-3p inhibits proliferation and invasion of ovarian cancer cells. | 52 |
| 27486781 | 2016 | Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. | 12 |
| 24202307 | 2014 | Genome-wide interaction study identifies RCBTB1 as a modifier for smoking effect on carotid intima-media thickness. | 11 |
Citation
Dessen P
RCBTB1 (RCC1 and BTB domain containing protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2005-02-01
Online version: http://atlasgeneticsoncology.org/gene/43011/rcbtb1-(rcc1-and-btb-domain-containing-protein-1)
