IER5

immediate early response 5

Basic information

Region (hg38): 1:181088700-181092900

Links

ENSG00000162783 ∙ NCBI:51278 ∙ OMIM:607177 ∙ HGNC:5393 ∙ Uniprot:Q5VY09 ∙ 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 IER5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IER5 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				1		1
missense			25	2		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	3	0

Variants in IER5

This is a list of pathogenic ClinVar variants found in the IER5 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-181088933-G-A		not specified	Uncertain significance (Nov 07, 2022)
1-181088941-C-T			Likely benign (Mar 01, 2022)
1-181089077-G-A		not specified	Uncertain significance (May 13, 2024)
1-181089119-G-C		not specified	Uncertain significance (Dec 12, 2024)
1-181089167-C-T		not specified	Uncertain significance (Oct 21, 2021)
1-181089180-C-T		not specified	Uncertain significance (Mar 18, 2024)
1-181089206-C-T		not specified	Uncertain significance (Oct 20, 2023)
1-181089282-A-G		not specified	Uncertain significance (Jul 06, 2021)
1-181089341-C-T		not specified	Uncertain significance (Jul 14, 2023)
1-181089344-C-G		not specified	Uncertain significance (Oct 22, 2024)
1-181089380-G-A		not specified	Uncertain significance (Oct 18, 2021)
1-181089408-C-T		not specified	Uncertain significance (Feb 07, 2023)
1-181089471-C-G		not specified	Uncertain significance (Oct 19, 2024)
1-181089473-G-T		not specified	Uncertain significance (Jul 27, 2024)
1-181089476-A-T		not specified	Likely benign (Jan 16, 2024)
1-181089489-C-T		not specified	Uncertain significance (Aug 15, 2023)
1-181089537-C-G		not specified	Uncertain significance (Nov 09, 2023)
1-181089548-C-T		not specified	Uncertain significance (Aug 28, 2024)
1-181089581-G-A		not specified	Uncertain significance (Feb 15, 2023)
1-181089597-C-G		not specified	Uncertain significance (Oct 25, 2022)
1-181089615-C-T		not specified	Uncertain significance (Feb 13, 2025)
1-181089617-C-T		not specified	Uncertain significance (Jul 03, 2024)
1-181089618-T-C		not specified	Uncertain significance (Dec 27, 2023)
1-181089660-G-A		not specified	Uncertain significance (Aug 26, 2024)
1-181089663-A-G		not specified	Likely benign (Oct 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IER5	protein_coding	protein_coding	ENST00000367577	1	2340

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.869	0.130	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00151	159	159	1.00	0.00000727	1984
Missense in Polyphen		54	71.326	0.75708		809
Synonymous	-2.99	105	72.6	1.45	0.00000356	708
Loss of Function	2.39	0	6.64	0.00	2.82e-7	90

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	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role as a transcription factor (PubMed:22132193, PubMed:25355627). Mediates positive transcriptional regulation of several chaperone genes during the heat shock response in a HSF1- dependent manner (PubMed:25355627, PubMed:25816751). Mediates negative transcriptional regulation of CDC25B expression (PubMed:22132193). Plays a role in the dephosphorylation of the heat shock factor HSF1 and ribosomal protein S6 kinase (S6K) by the protein phosphatase PP2A (PubMed:25816751, PubMed:26496226). Involved in the regulation of cell proliferation and resistance to thermal stress (PubMed:22132193, PubMed:25355627, PubMed:26496226). Involved in the cell cycle checkpoint and survival in response to ionizing radiation (PubMed:19238419, PubMed:22132193). Associates with chromatin to the CDC25B promoter (PubMed:22132193). {ECO:0000269|PubMed:19238419, ECO:0000269|PubMed:22132193, ECO:0000269|PubMed:25355627, ECO:0000269|PubMed:25816751, ECO:0000269|PubMed:26496226}.

Recessive Scores

• pRec: 0.104

Haploinsufficiency Scores

• pHI: 0.0791
• hipred: N
• hipred_score: 0.274
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.948

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ier5

Gene ontology

• Biological process: cellular response to heat;regulation of cell population proliferation;positive regulation of transcription by RNA polymerase II;positive regulation of cellular response to heat
• Cellular component: protein phosphatase type 2A complex;nucleus;cytoplasm
• Molecular function: protein binding;identical protein binding