Aliases for ECRG4 Gene

Aliases for ECRG4 Gene

  • ECRG4 Augurin Precursor 2 3 5
  • Esophageal Cancer Related Gene 4 Protein 2 3
  • Augurin 3 4
  • C2orf40 3 4
  • Esophageal Cancer-Related Gene 4 Protein 4
  • Chromosome 2 Open Reading Frame 40 2

External Ids for ECRG4 Gene

Previous HGNC Symbols for ECRG4 Gene

  • C2orf40

Previous GeneCards Identifiers for ECRG4 Gene

  • GC02P104546
  • GC02P105134
  • GC02P106284
  • GC02P106303
  • GC02P106140

Summaries for ECRG4 Gene

GeneCards Summary for ECRG4 Gene

ECRG4 (ECRG4 Augurin Precursor) is a Protein Coding gene. Diseases associated with ECRG4 include Esophageal Cancer and Esophageal Disease.

UniProtKB/Swiss-Prot Summary for ECRG4 Gene

  • Probable hormone that may attenuate cell proliferation and induce senescence of oligodendrocyte and neural precursor cells in the central nervous system (By similarity). ECRG4-induced senescence is characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation (By similarity).

Additional gene information for ECRG4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ECRG4 Gene

Genomics for ECRG4 Gene

GeneHancer (GH) Regulatory Elements for ECRG4 Gene

Promoters and enhancers for ECRG4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J106065 Promoter/Enhancer 1.1 EPDnew Ensembl CraniofacialAtlas 519.3 +2.6 2627 1.3 EZH2 YY1 SIN3A CTBP2 ECRG4 lnc-C2orf40-9
GH02J106063 Promoter 0.4 EPDnew 508.8 0.0 -24 0.1 FOXA2 ECRG4 piR-42491-133
GH02J106092 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 23.3 +32.0 31985 5 FOXP2 BCL3 SPI1 CTCF ECRG4 UXS1 NCK2 lnc-RGPD3-8 lnc-C2orf40-9
GH02J106084 Enhancer 0.8 Ensembl ENCODE dbSUPER 20.6 +23.4 23355 4.8 CTCF RAD21 SMC3 FOXA1 ZNF143 ECRG4 UXS1 lnc-RGPD3-8 lnc-C2orf40-9
GH02J105917 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.7 -145.7 -145658 5.6 EP300 CTCF POLR2G NCOR1 KDM6A ZBTB25 TGIF2 ZBTB7A SKI TEAD1 ENSG00000235522 ECRG4 lnc-NCK2-1 lnc-UXS1-2 ENSG00000234162
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECRG4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ECRG4

Genomic Locations for ECRG4 Gene

Genomic Locations for ECRG4 Gene
chr2:106,063,246-106,078,155
(GRCh38/hg38)
Size:
14,910 bases
Orientation:
Plus strand
chr2:106,679,702-106,694,615
(GRCh37/hg19)
Size:
14,914 bases
Orientation:
Plus strand

Genomic View for ECRG4 Gene

Genes around ECRG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECRG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECRG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECRG4 Gene

Proteins for ECRG4 Gene

  • Protein details for ECRG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1Z8-AUGN_HUMAN
    Recommended name:
    Augurin
    Protein Accession:
    Q9H1Z8
    Secondary Accessions:
    • D3DVK2

    Protein attributes for ECRG4 Gene

    Size:
    148 amino acids
    Molecular mass:
    17183 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ECRG4 Gene

Post-translational modifications for ECRG4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ECRG4 Gene

No data available for DME Specific Peptides for ECRG4 Gene

Domains & Families for ECRG4 Gene

Gene Families for ECRG4 Gene

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

Protein Domains for ECRG4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ECRG4 Gene

GenScript: Design optimal peptide antigens:
  • Esophageal cancer-related gene 4 protein (AUGN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H1Z8

UniProtKB/Swiss-Prot:

AUGN_HUMAN :
  • Belongs to the augurin family.
Family:
  • Belongs to the augurin family.
genes like me logo Genes that share domains with ECRG4: view

Function for ECRG4 Gene

Molecular function for ECRG4 Gene

UniProtKB/Swiss-Prot Function:
Probable hormone that may attenuate cell proliferation and induce senescence of oligodendrocyte and neural precursor cells in the central nervous system (By similarity). ECRG4-induced senescence is characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation (By similarity).

Phenotypes From GWAS Catalog for ECRG4 Gene

genes like me logo Genes that share phenotypes with ECRG4: view

Animal Models for ECRG4 Gene

MGI Knock Outs for ECRG4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECRG4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ECRG4 Gene

Localization for ECRG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECRG4 Gene

Secreted. Cytoplasm. Apical cell membrane.

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 ECRG4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ECRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA,IEA 21873635
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with ECRG4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ECRG4 Gene

Pathways & Interactions for ECRG4 Gene

PathCards logo

SuperPathways for ECRG4 Gene

No Data Available

Interacting Proteins for ECRG4 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000238044 Q9H1Z8-AUGN_HUMAN for ECRG4 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for ECRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007417 central nervous system development IBA 21873635
GO:0031145 anaphase-promoting complex-dependent catabolic process IBA,IEA 21873635
GO:0042127 regulation of cell proliferation IBA 21873635
GO:0070314 G1 to G0 transition IBA 21873635
GO:0090398 cellular senescence IEA,IBA 21873635
genes like me logo Genes that share ontologies with ECRG4: view

No data available for Pathways by source and SIGNOR curated interactions for ECRG4 Gene

Drugs & Compounds for ECRG4 Gene

No Compound Related Data Available

Transcripts for ECRG4 Gene

mRNA/cDNA for ECRG4 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
6 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 ECRG4

Alternative Splicing Database (ASD) splice patterns (SP) for ECRG4 Gene

No ASD Table

Relevant External Links for ECRG4 Gene

GeneLoc Exon Structure for
ECRG4

Expression for ECRG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ECRG4

SOURCE GeneReport for Unigene cluster for ECRG4 Gene:

Hs.43125

mRNA Expression by UniProt/SwissProt for ECRG4 Gene:

Q9H1Z8-AUGN_HUMAN
Tissue specificity: Expressed in the brain, with expression in the epithelial cell layer of the choroid plexus (at protein level).

Evidence on tissue expression from TISSUES for ECRG4 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with ECRG4: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ECRG4 Gene

Orthologs for ECRG4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ECRG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf40 30
  • 99.55 (n)
C2orf40 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C2orf40 31
  • 90 (a)
OneToOne
C10H2orf40 30
  • 87.67 (n)
rat
(Rattus norvegicus)
Mammalia RGD1305645 30
  • 81.76 (n)
mouse
(Mus musculus)
Mammalia 1500015O10Rik 31 30
  • 81.53 (n)
OneToOne
Ecrg4 17
cow
(Bos Taurus)
Mammalia C11H2orf40 31 30
  • 80.95 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2orf40 31
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf40 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H2ORF40 30
  • 73.81 (n)
C2orf40 31
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf40 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf40 30
  • 70.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia ecrg4-A 30
zebrafish
(Danio rerio)
Actinopterygii ecrg4a 30
  • 59.13 (n)
C9H2orf40 (1 of 2) 31
  • 47 (a)
OneToMany
C6H2orf40 (2 of 2) 31
  • 42 (a)
OneToMany
Species where no ortholog for ECRG4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ECRG4 Gene

ENSEMBL:
Gene Tree for ECRG4 (if available)
TreeFam:
Gene Tree for ECRG4 (if available)

Paralogs for ECRG4 Gene

No data available for Paralogs for ECRG4 Gene

Variants for ECRG4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ECRG4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
767812 Benign: not provided 106,073,912(+) G/A MISSENSE_VARIANT
rs10187689 - p.Ala52Thr

Additional dbSNP identifiers (rs#s) for ECRG4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ECRG4 Gene

Variant ID Type Subtype PubMed ID
nsv1114123 CNV deletion 24896259

Variation tolerance for ECRG4 Gene

Residual Variation Intolerance Score: 87.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ECRG4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECRG4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECRG4 Gene

Disorders for ECRG4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ECRG4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
esophageal cancer
  • esophageal cancer, somatic
esophageal disease
  • esophageal ulcer
- elite association - COSMIC cancer census association via MalaCards
Search ECRG4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ECRG4

genes like me logo Genes that share disorders with ECRG4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ECRG4 Gene

Publications for ECRG4 Gene

  1. Expression of ECRG4, a novel esophageal cancer-related gene, downregulated by CpG island hypermethylation in human esophageal squamous cell carcinoma. (PMID: 12800218) Yue CM … Lu SH (World journal of gastroenterology 2003) 2 3 23 54
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54
  3. 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
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54
  5. Open reading frame mining identifies a TLR4 binding domain in the primary sequence of ECRG4. (PMID: 31190084) Dang X … Baird A (Cellular and molecular life sciences : CMLS 2019) 3 54

No data available for Mastermind for ECRG4 Gene

Products for ECRG4 Gene

Sources for ECRG4 Gene