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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Microcephaly, epilepsy, and diabetes syndrome Likely pathogenic; Pathogenic rs387907012 RCV000023768
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly, epilepsy, and diabetes syndrome 1 Likely pathogenic; Pathogenic rs387907012 RCV001799508
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Epilepsy Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IER3IP1-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY MICROCEPHALY, EPILEPSY, PERMANENT NEONATAL DIABETES SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma Pubtator 35606283 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal Recessive Primary Microcephaly Primary microcephaly Pubtator 24138066 Associate
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 22991235 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 24138066 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 21835305, 28915629
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 21835305, 28915629
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 21835305, 37689631 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus HPO_DG
★☆☆☆☆
Found in Text Mining only