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
229912352012A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).7
152762002004Cloning and characterization of a novel endoplasmic reticulum localized G-patch domain protein, IER3IP1.4
198858542010Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins.2
184765942007[The expression of IER3IP1 gene in K562 cells treated by matrine and its effect on the cell growth].0
199515362009[Effect of IER3IP1 gene expression on the proliferation and erythroid differentiation of K562 cells].0
287117422017Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.0

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/ier3ip1