Gene Gene information from NCBI Gene database.
Entrez ID 51124
Gene name Immediate early response 3 interacting protein 1
Gene symbol IER3IP1
Synonyms (NCBI Gene)
HSPC039MEDSPRO2309
Chromosome 18
Chromosome location 18q21.1
Summary This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs149009126 C>A,G,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs150586939 A>G Likely-benign, pathogenic 3 prime UTR variant
rs387907011 A>C,T Pathogenic Missense variant, coding sequence variant
rs387907012 A>G Pathogenic Missense variant, coding sequence variant
rs863223399 A>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
541
miRTarBase ID miRNA Experiments Reference
MIRT020300 hsa-miR-130b-3p Sequencing 20371350
MIRT020890 hsa-miR-155-5p Proteomics 18668040
MIRT025593 hsa-miR-10a-5p Sequencing 20371350
MIRT026976 hsa-miR-107 Microarray 20489155
MIRT031248 hsa-miR-19b-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0003309 Process Type B pancreatic cell differentiation IEA
GO:0003331 Process Positive regulation of extracellular matrix constituent secretion IMP 33122427
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609382 18550 ENSG00000134049
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5U9
Protein name Immediate early response 3-interacting protein 1
Protein function Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size (PubMed:33122427). Required for secretion of extracellular matrix proteins (PubMed:33122427). Required for correct brain development by depositing sufficie
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08571 Yos1 5 82 Yos1-like Family
Tissue specificity TISSUE SPECIFICITY: Highest levels in heart, skeletal muscle, and kidney. {ECO:0000269|PubMed:15276200}.
Sequence
Sequence length 82
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
105
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly, epilepsy, and diabetes syndrome Likely pathogenic; Pathogenic rs387907012 RCV000023768
Microcephaly, epilepsy, and diabetes syndrome 1 Likely pathogenic; Pathogenic rs387907012 RCV001799508
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Epilepsy Likely benign rs150586939 RCV000991184
IER3IP1-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign rs149009126, rs150586939, rs61729777 RCV003947607
RCV003902752
RCV003962384
Self-limited epilepsy with centrotemporal spikes Likely benign rs150586939 RCV000656061
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 35606283
Autosomal Recessive Primary Microcephaly Associate 24138066
Bone Diseases Metabolic Associate 22991235
Brain Diseases Associate 24138066
Diabetes Mellitus Associate 21835305, 37689631
Diabetes Mellitus Permanent Neonatal Associate 22991235, 24138066
Diabetes Mellitus Transient Neonatal 1 Associate 24138066
Epilepsy Associate 21835305, 22991235, 24138066
Fractures Bone Associate 22991235
Microcephaly Associate 21835305, 22991235, 24138066