GREB1L (GREB1 like retinoic acid receptor coactivator)

2009-09-01  

Identity

HGNC
GREB1L
LOCATION
18q11.1
LOCUSID
80000
ALIAS
C18orf6,DFNA80,KIAA1772,RHDA3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80000
MIM: 617782
HGNC: 31042
Ensembl: ENSG00000141449

Variants:

dbSNP: 80000
ClinVar: 80000
TCGA: ENSG00000141449
COSMIC: GREB1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141449ENST00000269218Q9C091
ENSG00000141449ENST00000424526Q9C091
ENSG00000141449ENST00000579454J3QQW0
ENSG00000141449ENST00000580384J3KRT4
ENSG00000141449ENST00000580732Q9C091
ENSG00000141449ENST00000581327J3QR03

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
382853712024The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.1
382853712024The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.1
371241382023Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.2
379642812023GREB1L overexpression is associated with good clinical outcomes in breast cancer.0
371241382023Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.2
379642812023GREB1L overexpression is associated with good clinical outcomes in breast cancer.0
363579082022A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.4
363712382022A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.3
363579082022A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.4
363712382022A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.3

Citation

Dessen P

GREB1L (GREB1 like retinoic acid receptor coactivator)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51102/greb1l-(greb1-like-retinoic-acid-receptor-coactivator)