ESS2 (ess-2 splicing factor homolog)

2017-09-01  

Identity

HGNC
ESS2
LOCATION
22q11.21
LOCUSID
8220
ALIAS
DGCR13,DGCR14,DGS-H,DGS-I,DGSH,DGSI,ES2,ESS-2,Es2el,bis1

Other Information

Locus ID:

NCBI: 8220
MIM: 601755
HGNC: 16817
Ensembl: ENSG00000100056

Variants:

dbSNP: 8220
ClinVar: 8220
TCGA: ENSG00000100056
COSMIC: ESS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100056ENST00000252137Q96DF8
ENSG00000100056ENST00000434568F8WEF8

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
164326322006Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia.4
294549682018Ess2 bridges transcriptional regulators and spliceosomal complexes via distinct interacting domains.2

Citation

Dessen P

ESS2 (ess-2 splicing factor homolog)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01

Online version: http://atlasgeneticsoncology.org/gene/79390/ess2