IER3IP1 (immediate early response 3 interacting protein 1)

2007-04-01  

Identity

HGNC
LOCATION
18q21.1
LOCUSID
ALIAS
HSPC039,MEDS,PRO2309
FUSION GENES

Other Information

Locus ID:

NCBI: 51124
MIM: 609382
HGNC: 18550
Ensembl: ENSG00000134049

Variants:

dbSNP: 51124
ClinVar: 51124
TCGA: ENSG00000134049
COSMIC: IER3IP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134049ENST00000256433Q9Y5U9
ENSG00000134049ENST00000639845A0A1W2PNR9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
379348202023Essential requirement for IER3IP1 in B cell development.2
379348202023Essential requirement for IER3IP1 in B cell development.2
331224272020A human tissue screen identifies a regulator of ER secretion as a brain-size determinant.52
331224272020A human tissue screen identifies a regulator of ER secretion as a brain-size determinant.52
287117422017Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.6
287117422017Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.6
229912352012A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).16
229912352012A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).16
198858542010Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins.2
198858542010Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins.2
199515362009[Effect of IER3IP1 gene expression on the proliferation and erythroid differentiation of K562 cells].0
199515362009[Effect of IER3IP1 gene expression on the proliferation and erythroid differentiation of K562 cells].0
184765942007[The expression of IER3IP1 gene in K562 cells treated by matrine and its effect on the cell growth].0
184765942007[The expression of IER3IP1 gene in K562 cells treated by matrine and its effect on the cell growth].0
152762002004Cloning and characterization of a novel endoplasmic reticulum localized G-patch domain protein, IER3IP1.9

Citation

Dessen P

IER3IP1 (immediate early response 3 interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47376/js/lib/gene-fusions-explorer/css/template-nav.css