SRRM2 (serine/arginine repetitive matrix 2)

2016-08-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
300-KD,CWF21,Cwc21,HSPC075,SRL300,SRm300
FUSION GENES

Other Information

Locus ID:

NCBI: 23524
MIM: 606032
HGNC: 16639
Ensembl: ENSG00000167978

Variants:

dbSNP: 23524
ClinVar: 23524
TCGA: ENSG00000167978
COSMIC: SRRM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167978ENST00000301740Q9UQ35
ENSG00000167978ENST00000301740A0A140VK53
ENSG00000167978ENST00000570539I3L1W5
ENSG00000167978ENST00000570971A0A087X1W1
ENSG00000167978ENST00000571378I3L182
ENSG00000167978ENST00000572883I3L3Q8
ENSG00000167978ENST00000573692I3L4U6
ENSG00000167978ENST00000574340I3L0N7
ENSG00000167978ENST00000575009I3L1I8
ENSG00000167978ENST00000576415I3L1C0
ENSG00000167978ENST00000576924I3L4D8
ENSG00000167978ENST00000630499Q9UQ35

Expression (GTEx)

0
100
200
300
400
500
600
700

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201617082010SRRM2, a potential blood biomarker revealing high alternative splicing in Parkinson's disease.29
198548712009Physical and genetic interactions of yeast Cwc21p, an ortholog of human SRm300/SRRM2, suggest a role at the catalytic center of the spliceosome.22
197892112009A systematic characterization of Cwc21, the yeast ortholog of the human spliceosomal protein SRm300.19
261356202015A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition.15
280628512017Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion.4

Citation

Dessen P

SRRM2 (serine/arginine repetitive matrix 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55893/srrm2