ERF (ETS2 repressor factor)

2003-02-01  

Identity

HGNC
ERF
LOCATION
19q13.2
LOCUSID
2077
ALIAS
CHYTS,CRS4,PE-2,PE2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2077
MIM: 611888
HGNC: 3444
Ensembl: ENSG00000105722

Variants:

dbSNP: 2077
ClinVar: 2077
TCGA: ENSG00000105722
COSMIC: ERF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105722ENST00000222329P50548
ENSG00000105722ENST00000222329A0A024R0L4
ENSG00000105722ENST00000440177P50548
ENSG00000105722ENST00000593944M0QXN0
ENSG00000105722ENST00000598965M0QX79

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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

Pathways

PathwaySourceExternal ID
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
Oncogene Induced SenescenceREACTOMER-HSA-2559585

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid 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
382188892024Activation of γ-globin expression by LncRNA-mediated ERF promoter hypermethylation in β-thalassemia.0
382188892024Activation of γ-globin expression by LncRNA-mediated ERF promoter hypermethylation in β-thalassemia.0
357614712022Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.1
363834122022The CIC-ERF co-deletion underlies fusion-independent activation of ETS family member, ETV1, to drive prostate cancer progression.4
357614712022Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.1
363834122022The CIC-ERF co-deletion underlies fusion-independent activation of ETS family member, ETV1, to drive prostate cancer progression.4
339936072021Dissection of contiguous gene effects for deletions around ERF on chromosome 19.2
341170722021Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.2
339936072021Dissection of contiguous gene effects for deletions around ERF on chromosome 19.2
341170722021Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.2
323707452020A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.3
325925422020Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.4
329869302020Identification and analysis of micro-exons in AP2/ERF and MADS gene families.3
323707452020A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.3
325925422020Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.4

Citation

Dessen P

ERF (ETS2 repressor factor)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40485