SRRM2 (serine/arginine repetitive matrix 2)

2016-08-01  

Identity

HGNC
SRRM2
LOCATION
16p13.3
LOCUSID
23524
ALIAS
300-KD,CWF21,Cwc21,HSPC075,SRL300,SRm300
FUSION GENES
Show Gene Fusions

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
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 - Major PathwayREACTOMER-HSA-72163

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
382894822024SRRM2 may be a potential biomarker and immunotherapy target for multiple myeloma: a real-world study based on flow cytometry detection.0
382894822024SRRM2 may be a potential biomarker and immunotherapy target for multiple myeloma: a real-world study based on flow cytometry detection.0
355675942022Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.6
359290452022SRRM2 organizes splicing condensates to regulate alternative splicing.16
355675942022Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.6
359290452022SRRM2 organizes splicing condensates to regulate alternative splicing.16
330951602020SON and SRRM2 are essential for nuclear speckle formation.78
331714832020A compound downregulation of SRRM2 and miR-27a-3p with upregulation of miR-27b-3p in PBMCs of Parkinson's patients is associated with the early stage onset of disease.13
330951602020SON and SRRM2 are essential for nuclear speckle formation.78
331714832020A compound downregulation of SRRM2 and miR-27a-3p with upregulation of miR-27b-3p in PBMCs of Parkinson's patients is associated with the early stage onset of disease.13
280628512017Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion.12
280628512017Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion.12
261356202015A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition.45
261356202015A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition.45
201617082010SRRM2, a potential blood biomarker revealing high alternative splicing in Parkinson's disease.54

Citation

Dessen P

SRRM2 (serine/arginine repetitive matrix 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

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