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.

• not_specified (50 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_000016545.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			48	2		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	3	0

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