Gene Gene information from NCBI Gene database.
Entrez ID 57222
Gene name Endoplasmic reticulum-golgi intermediate compartment 1
Gene symbol ERGIC1
Synonyms (NCBI Gene)
AMC2AMCNERGIC-32ERGIC32NET24
Chromosome 5
Chromosome location 5q35.1
Summary 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.
1
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.
842
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617946 29205 ENSG00000113719
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
Arthrogryposis multiplex congenita 2, neurogenic type Pathogenic rs1554112524 RCV000626312
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Flexion contracture Likely pathogenic rs1581595267 RCV001007807
★★★★☆
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
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA NEUROGENIC TYPE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
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
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 30732635
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29630712
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 29630712 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthrogryposis Arthrogryposis multiplex congenita BEFREE 24585410, 28317099
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis Pubtator 31230720, 34037256 Associate
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita HPO_DG
★☆☆☆☆
Found in Text Mining only
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder) Neurogenic arthrogryposis multiplex congenita ORPHANET_DG 28317099
★☆☆☆☆
Found in Text Mining only
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder) Neurogenic arthrogryposis multiplex congenita UNIPROT_DG 28317099
★☆☆☆☆
Found in Text Mining only
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder) Neurogenic arthrogryposis multiplex congenita CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma of larynx Laryngeal carcinoma BEFREE 25968442, 28656258, 31629025
★☆☆☆☆
Found in Text Mining only