ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2)

2012-06-01  

Identity

HGNC
ZRSR2
LOCATION
Xp22.2
LOCUSID
8233
ALIAS
U2AF1-RS2,U2AF1L2,U2AF1RS2,URP,ZC3H22
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8233
MIM: 300028
HGNC: 23019
Ensembl: ENSG00000169249

Variants:

dbSNP: 8233
ClinVar: 8233
TCGA: ENSG00000169249
COSMIC: ZRSR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169249ENST00000307771Q15696
ENSG00000169249ENST00000380308A6NDW0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

References

Pubmed IDYearTitleCitations
223892532012Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.124
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
255865932015Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome.51
210414082010The U2AF35-related protein Urp contacts the 3' splice site to promote U12-type intron splicing and the second step of U2-type intron splicing.31
259645992015Mutations in the Spliceosomal Machinery Genes SRSF2, U2AF1, and ZRSR2 and Response to Decitabine in Myelodysplastic Syndrome.6
289423502017Refractory macrocytic anemias in patients with clonal hematopoietic disorders and isolated mutations of the spliceosome gene ZRSR2.3
311249562019Effect of RNA splicing machinery gene mutations on prognosis of patients with MDS: A meta-analysis.1
313611762019ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome.0

Citation

Dessen P

ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52759/zrsr2