Aliases for ERGIC3 Gene

Aliases for ERGIC3 Gene

  • ERGIC And Golgi 3 2 3 5
  • Endoplasmic Reticulum-Golgi Intermediate Compartment Protein 3 3 4
  • Serologically Defined Breast Cancer Antigen NY-BR-84 3 4
  • Serologically Defined Breast Cancer Antigen 84 2 3
  • C20orf47 3 4
  • SDBCAG84 3 4
  • Endoplasmic Reticulum-Localized Protein ERp43 3
  • Chromosome 20 Open Reading Frame 47 2
  • DJ477O4.2 3
  • NY-BR-84 3
  • C2orf47 3
  • PRO0989 3
  • CGI-54 3
  • Erv46 3
  • ERV46 4

External Ids for ERGIC3 Gene

Previous HGNC Symbols for ERGIC3 Gene

  • SDBCAG84
  • C20orf47

Previous GeneCards Identifiers for ERGIC3 Gene

  • GC20P033589
  • GC20P034129
  • GC20P030907

Summaries for ERGIC3 Gene

GeneCards Summary for ERGIC3 Gene

ERGIC3 (ERGIC And Golgi 3) is a Protein Coding gene. Diseases associated with ERGIC3 include Alpha Thalassemia-Intellectual Disability Syndrome Type 1. An important paralog of this gene is ERGIC2.

UniProtKB/Swiss-Prot Summary for ERGIC3 Gene

Gene Wiki entry for ERGIC3 Gene

Additional gene information for ERGIC3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERGIC3 Gene

Genomics for ERGIC3 Gene

GeneHancer (GH) Regulatory Elements for ERGIC3 Gene

Promoters and enhancers for ERGIC3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERGIC3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERGIC3

Top Transcription factor binding sites by QIAGEN in the ERGIC3 gene promoter:
  • AML1a
  • CUTL1
  • HNF-1
  • HNF-1A
  • Ik-1
  • LCR-F1
  • Pax-6
  • XBP-1

Genomic Locations for ERGIC3 Gene

Genomic Locations for ERGIC3 Gene
chr20:35,542,021-35,557,634
(GRCh38/hg38)
Size:
15,614 bases
Orientation:
Plus strand
chr20:34,129,770-34,145,405
(GRCh37/hg19)
Size:
15,636 bases
Orientation:
Plus strand

Genomic View for ERGIC3 Gene

Genes around ERGIC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERGIC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERGIC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERGIC3 Gene

Proteins for ERGIC3 Gene

  • Protein details for ERGIC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y282-ERGI3_HUMAN
    Recommended name:
    Endoplasmic reticulum-Golgi intermediate compartment protein 3
    Protein Accession:
    Q9Y282
    Secondary Accessions:
    • Q5JWS3
    • Q6ZWP7
    • Q9H276
    • Q9P1L3

    Protein attributes for ERGIC3 Gene

    Size:
    383 amino acids
    Molecular mass:
    43222 Da
    Quaternary structure:
    • Interacts with ERGIC1/ERGIC32.
    SequenceCaution:
    • Sequence=AAF71038.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAG48265.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ERGIC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERGIC3 Gene

Post-translational modifications for ERGIC3 Gene

  • Glycosylation at Asn241 and Asn266
  • Ubiquitination at Lys8 and Lys15
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ERGIC3 Gene

Domains & Families for ERGIC3 Gene

Gene Families for ERGIC3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ERGIC3 Gene

Blocks:
  • Protein of unknown function DUF1692
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERGIC3 Gene

GenScript: Design optimal peptide antigens:
  • Endoplasmic reticulum-localized protein ERp43 (A2TJK5_HUMAN)
  • ERGIC and golgi 3 (A6PVJ2_HUMAN)
  • ERGIC and golgi 3 (A6PVJ3_HUMAN)
  • Serologically defined breast cancer antigen NY-BR-84 (ERGI3_HUMAN)
  • ERGIC and golgi 3 (Q5JWS0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y282

UniProtKB/Swiss-Prot:

ERGI3_HUMAN :
  • Belongs to the ERGIC family.
Family:
  • Belongs to the ERGIC family.
genes like me logo Genes that share domains with ERGIC3: view

Function for ERGIC3 Gene

Molecular function for ERGIC3 Gene

UniProtKB/Swiss-Prot Function:
Possible role in transport between endoplasmic reticulum and Golgi.

Phenotypes From GWAS Catalog for ERGIC3 Gene

genes like me logo Genes that share phenotypes with ERGIC3: view

Animal Model Products

CRISPR Products

miRNA for ERGIC3 Gene

miRTarBase miRNAs that target ERGIC3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERGIC3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ERGIC3 Gene

Localization for ERGIC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERGIC3 Gene

Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Cycles between the endoplasmic reticulum and the Golgi.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERGIC3 gene
Compartment Confidence
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 3
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ERGIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ERGIC3: view

Pathways & Interactions for ERGIC3 Gene

PathCards logo

SuperPathways for ERGIC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ERGIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport IBA 21873635
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA 21873635
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with ERGIC3: view

No data available for Pathways by source and SIGNOR curated interactions for ERGIC3 Gene

Drugs & Compounds for ERGIC3 Gene

No Compound Related Data Available

Transcripts for ERGIC3 Gene

mRNA/cDNA for ERGIC3 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERGIC3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERGIC3 Gene

No ASD Table

Relevant External Links for ERGIC3 Gene

GeneLoc Exon Structure for
ERGIC3

Expression for ERGIC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERGIC3 Gene

Protein differential expression in normal tissues from HIPED for ERGIC3 Gene

This gene is overexpressed in Bone (13.9), Stomach (8.8), and Lung (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERGIC3 Gene



Protein tissue co-expression partners for ERGIC3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERGIC3

SOURCE GeneReport for Unigene cluster for ERGIC3 Gene:

Hs.472558

Evidence on tissue expression from TISSUES for ERGIC3 Gene

  • Nervous system(4.9)
  • Skin(4.7)
  • Liver(4.6)
  • Intestine(4.5)
  • Lung(3.6)
  • Kidney(2.8)
  • Eye(2.5)
  • Pancreas(2.3)
  • Thyroid gland(2.1)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with ERGIC3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERGIC3 Gene

Orthologs for ERGIC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERGIC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERGIC3 31 30
  • 99.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ERGIC3 31 30
  • 93.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ERGIC3 31 30
  • 92.08 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ergic3 17 31 30
  • 91.56 (n)
rat
(Rattus norvegicus)
Mammalia Ergic3 30
  • 91.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERGIC3 31
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERGIC3 31
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 90 (a)
OneToMany
-- 31
  • 84 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia ERGIC3 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ergic3 30
  • 73.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15764 30
zebrafish
(Danio rerio)
Actinopterygii ergic3 31 30
  • 76.98 (n)
OneToOne
zgc55762 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4408 30
fruit fly
(Drosophila melanogaster)
Insecta CG7011 31 30
  • 54.91 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012144 30
  • 53.75 (n)
worm
(Caenorhabditis elegans)
Secernentea erv-46 31 30
  • 49.34 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV46 31
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G36050 30
  • 58.78 (n)
rice
(Oryza sativa)
Liliopsida Os05g0490200 30
  • 55.47 (n)
Os.22690 30
wheat
(Triticum aestivum)
Liliopsida Ta.23108 30
corn
(Zea mays)
Liliopsida Zm.13676 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4931 31
  • 56 (a)
OneToOne
Species where no ortholog for ERGIC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ERGIC3 Gene

ENSEMBL:
Gene Tree for ERGIC3 (if available)
TreeFam:
Gene Tree for ERGIC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERGIC3: view image

Paralogs for ERGIC3 Gene

Paralogs for ERGIC3 Gene

(2) SIMAP similar genes for ERGIC3 Gene using alignment to 13 proteins:

  • ERGI3_HUMAN
  • A2TJK5_HUMAN
  • A6PVJ2_HUMAN
  • A6PVJ3_HUMAN
  • E9PFA8_HUMAN
  • H0Y5K5_HUMAN
  • H0Y621_HUMAN
  • H0Y6Z0_HUMAN
  • H0Y802_HUMAN
  • H7BXI5_HUMAN
  • Q5JWS0_HUMAN
  • Q5JWS1_HUMAN
  • Q5JWS2_HUMAN
genes like me logo Genes that share paralogs with ERGIC3: view

Variants for ERGIC3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERGIC3 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
777543 Benign: not provided 35,556,029(+) A/G INTRON_VARIANT
777544 Benign: not provided 35,556,978(+) G/A SYNONYMOUS_VARIANT
VAR_036553 A colorectal cancer sample p.Thr297Lys
rs35505616 - p.Ile113Leu

Additional dbSNP identifiers (rs#s) for ERGIC3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ERGIC3 Gene

Variant ID Type Subtype PubMed ID
nsv1062839 CNV loss 25217958
nsv3364 CNV insertion 18451855
nsv517785 CNV loss 19592680
nsv526796 CNV loss 19592680

Variation tolerance for ERGIC3 Gene

Residual Variation Intolerance Score: 10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERGIC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERGIC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERGIC3 Gene

Disorders for ERGIC3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ERGIC3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
alpha thalassemia-intellectual disability syndrome type 1
  • alpha-thalassemia/mental retardation syndrome, deletion-type
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ERGIC3

genes like me logo Genes that share disorders with ERGIC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERGIC3 Gene

Publications for ERGIC3 Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Proteomics of endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membranes from brefeldin A-treated HepG2 cells identifies ERGIC-32, a new cycling protein that interacts with human Erv46. (PMID: 15308636) Breuza L … Hauri HP (The Journal of biological chemistry 2004) 3 4 54
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 54

Products for ERGIC3 Gene

Sources for ERGIC3 Gene