IER3IP1 (immediate early response 3 interacting protein 1)

IER3IP1 (immediate early response 3 interacting protein 1)

2007-04-01 Affiliation

Identity

HGNC

LOCATION

18q21.1

LOCUSID

ALIAS

HSPC039,MEDS,PRO2309

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134049	ENST00000256433	Q9Y5U9
ENSG00000134049	ENST00000639845	A0A1W2PNR9

Expression (GTEx)

0

5

10

15

20

25

30

35

40

45

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37934820	2023	Essential requirement for IER3IP1 in B cell development.	2
37934820	2023	Essential requirement for IER3IP1 in B cell development.	2
33122427	2020	A human tissue screen identifies a regulator of ER secretion as a brain-size determinant.	52
33122427	2020	A human tissue screen identifies a regulator of ER secretion as a brain-size determinant.	52
28711742	2017	Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.	6
28711742	2017	Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.	6
22991235	2012	A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).	16
22991235	2012	A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).	16
19885854	2010	Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins.	2
19885854	2010	Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins.	2
19951536	2009	[Effect of IER3IP1 gene expression on the proliferation and erythroid differentiation of K562 cells].	0
19951536	2009	[Effect of IER3IP1 gene expression on the proliferation and erythroid differentiation of K562 cells].	0
18476594	2007	[The expression of IER3IP1 gene in K562 cells treated by matrine and its effect on the cell growth].	0
18476594	2007	[The expression of IER3IP1 gene in K562 cells treated by matrine and its effect on the cell growth].	0
15276200	2004	Cloning 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/css/js/_common.js