Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57222
Gene name Gene Name - the full gene name approved by the HGNC.
Endoplasmic reticulum-golgi intermediate compartment 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERGIC1
Synonyms (NCBI Gene) Gene synonyms aliases
AMC2, AMCN, ERGIC-32, ERGIC32, NET24
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1581595267 G>A Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020634 hsa-miR-155-5p Proteomics 18668040
MIRT049405 hsa-miR-92a-3p CLASH 23622248
MIRT038584 hsa-miR-106b-3p CLASH 23622248
MIRT703875 hsa-miR-5700 HITS-CLIP 23313552
MIRT703874 hsa-miR-3613-3p HITS-CLIP 23313552
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:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 15308636, 31142615, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617946 29205 ENSG00000113719
Protein
UniProt ID Q969X5
Protein name Endoplasmic reticulum-Golgi intermediate compartment protein 1 (ER-Golgi intermediate compartment 32 kDa protein) (ERGIC-32)
Protein function Possible role in transport between endoplasmic reticulum and Golgi.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13850 ERGIC_N 5 98 Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC) Domain
PF07970 COPIIcoated_ERV 95 271 Endoplasmic reticulum vesicle transporter Family
Sequence
MPFDFRRFDIYRKVPKDLTQPTYTGAIISICCCLFILFLFLSELTGFITTEVVNELYVDD
PDKDSGGKIDVSLNISLPNLHCELVGLDIQDEMG
RHEVGHIDNSMKIPLNNGAGCRFEGQ
FSINKVPGNFHVSTHSATAQPQNPDMTHVIHKLSFGDTLQVQNIHGAFNALGGADRLTSN
PLASHDYILKIVPTVYEDKSGKQRYSYQYTVANKEYVAYSHTGRIIPAIWFRYDLSPITV
KYTERRQPLYRFITTICAIIGGTFTVAGILD
SCIFTASEAWKKIQLGKMH
Sequence length 290
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
Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita 2, neurogenic type rs1554112524 N/A
Congenital finger flexion contractures Flexion contracture rs1581595267 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
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 29630712
Arthrogryposis Associate 31230720, 34037256
Prostatic Neoplasms Associate 22761906
Stomach Neoplasms Associate 28970727