Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51124
Gene name Gene Name - the full gene name approved by the HGNC.
Immediate early response 3 interacting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IER3IP1
Synonyms (NCBI Gene) Gene synonyms aliases
HSPC039, MEDS, PRO2309
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609382 18550 ENSG00000134049
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Microcephaly, Epilepsy, And Diabetes Syndrome microcephaly, epilepsy, and diabetes syndrome rs387907012 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epilepsy epilepsy N/A N/A ClinVar
Associations from Text Mining Disease 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