RCBTB1 (RCC1 and BTB domain containing protein 1)

2005-02-01 Affiliation

Identity

HGNC

RCBTB1

LOCATION

13q14.2

LOCUSID

55213

ALIAS

CLLD7,CLLL7,GLP,RDEOA

FUSION GENES

Show Gene Fusions

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)

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 ID	Year	Title	Citations
27166999	2016	Targeting miR-21-3p inhibits proliferation and invasion of ovarian cancer cells.	24
20085599	2009	A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2.	23
26908610	2016	Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.	11
20926398	2010	Clld7, a candidate tumor suppressor on chromosome 13q14, regulates pathways of DNA damage/repair and apoptosis.	9
24202307	2014	Genome-wide interaction study identifies RCBTB1 as a modifier for smoking effect on carotid intima-media thickness.	9
27486781	2016	Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.	5
14565662	2003	13q deletion in chronic lymphocytic leukemia: characterization of E4.5, a novel chromosome condensation regulator-like guanine nucleotide exchange factor.	3

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