IER3

immediate early response 3

Basic information

Region (hg38): 6:30743199-30744548

Links

ENSG00000137331 ∙ NCBI:8870 ∙ OMIM:602996 ∙ HGNC:5392 ∙ Uniprot:P46695 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IER3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IER3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6	2		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	2	0

Variants in IER3

This is a list of pathogenic ClinVar variants found in the IER3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-30743946-G-T		not specified	Uncertain significance (May 18, 2023)
6-30743989-C-A		not specified	Uncertain significance (Jun 22, 2023)
6-30744078-G-A		not specified	Uncertain significance (Jul 05, 2023)
6-30744130-T-C		not specified	Likely benign (Jan 24, 2024)
6-30744425-C-T		not specified	Uncertain significance (May 08, 2023)
6-30744430-C-A		not specified	Uncertain significance (May 24, 2023)
6-30744448-A-T		not specified	Likely benign (Mar 01, 2024)
6-30744482-T-G		not specified	Uncertain significance (Feb 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IER3	protein_coding	protein_coding	ENST00000259874	2	1356

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.631	0.342	125194	0	1	125195	0.00000399

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.23	55	87.5	0.629	0.00000388	970
Missense in Polyphen		9	26.644	0.33779		310
Synonymous	1.00	31	39.0	0.795	0.00000181	359
Loss of Function	1.66	0	3.19	0.00	1.43e-7	32

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the ERK signaling pathway by inhibiting the dephosphorylation of ERK by phosphatase PP2A- PPP2R5C holoenzyme. Acts also as an ERK downstream effector mediating survival. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment. {ECO:0000269|PubMed:12356731, ECO:0000269|PubMed:16456541, ECO:0000269|PubMed:22565310}.
• Pathway: Apoptosis-related network due to altered Notch3 in ovarian cancer;Signal Transduction;PIP3 activates AKT signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Intracellular signaling by second messengers (Consensus)

Haploinsufficiency Scores

• pHI: 0.0426
• hipred: N
• hipred_score: 0.237

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.983

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ier3
• Phenotype: homeostasis/metabolism phenotype; muscle phenotype; immune system phenotype; digestive/alimentary phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; neoplasm

Gene ontology

• Biological process: apoptotic process;anatomical structure morphogenesis;regulation of phosphatidylinositol 3-kinase signaling;negative regulation of apoptotic process;regulation of response to DNA damage stimulus
• Cellular component: nucleus;cytosol;integral component of membrane
• Molecular function: protein binding