RERE (arginine-glutamic acid dipeptide repeats)

2003-02-01  

Identity

HGNC
RERE
LOCATION
1p36.23
LOCUSID
473
ALIAS
ARG,ARP,ATN1L,DNB1,NEDBEH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 473
MIM: 605226
HGNC: 9965
Ensembl: ENSG00000142599

Variants:

dbSNP: 473
ClinVar: 473
TCGA: ENSG00000142599
COSMIC: RERE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142599ENST00000337907Q9P2R6
ENSG00000142599ENST00000337907A0A024R4E9
ENSG00000142599ENST00000377464B1AKN3
ENSG00000142599ENST00000400907H7BYW9
ENSG00000142599ENST00000400908Q9P2R6
ENSG00000142599ENST00000400908A0A024R4E9
ENSG00000142599ENST00000464367A0A075B770
ENSG00000142599ENST00000464972K7EIE3
ENSG00000142599ENST00000468247K7EJQ1
ENSG00000142599ENST00000476556Q9P2R6
ENSG00000142599ENST00000488215K7EIQ4
ENSG00000142599ENST00000505225D6RA28
ENSG00000142599ENST00000514428H0Y975
ENSG00000142599ENST00000656437A0A590UJ84
ENSG00000142599ENST00000659924A0A590UK57

Expression (GTEx)

0
50
100
150
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
270873202016De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.39
270873202016De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.39
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204105012010Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.142
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204105012010Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.142
185970382009High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density.4
185970382009High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density.4
146451262004Atrophin 2 recruits histone deacetylase and is required for the function of multiple signaling centers during mouse embryogenesis.41
146451262004Atrophin 2 recruits histone deacetylase and is required for the function of multiple signaling centers during mouse embryogenesis.41

Citation

Dessen P

RERE (arginine-glutamic acid dipeptide repeats)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42083