RCBTB1 (RCC1 and BTB domain containing protein 1)

2005-02-01  

Identity

HGNC
RCBTB1
LOCATION
13q14.2
LOCUSID
55213
ALIAS
CLLD7,CLLL7,GLP,RDEOA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55213
MIM: 607867
HGNC: 18243
Ensembl: ENSG00000136144

Variants:

dbSNP: 55213
ClinVar: 55213
TCGA: ENSG00000136144
COSMIC: RCBTB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136144ENST00000258646Q8NDN9
ENSG00000136144ENST00000378302Q8NDN9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
386799852024Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients.0
386799852024Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients.0
350576992022Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.2
350576992022Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.2
331043912021Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.4
336245642021Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.5
331043912021Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.4
336245642021Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.5
269086102016Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.29
271669992016Targeting miR-21-3p inhibits proliferation and invasion of ovarian cancer cells.52
274867812016Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.12
269086102016Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.29
271669992016Targeting miR-21-3p inhibits proliferation and invasion of ovarian cancer cells.52
274867812016Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.12
242023072014Genome-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/favicon/gene-fusions/?id=43011