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Aliases for ERC2 Gene

Aliases for ERC2 Gene

  • ELKS/RAB6-Interacting/CAST Family Member 2 2 3
  • CAZ-Associated Structural Protein 3
  • Cytomatrix Protein P110 3
  • KIAA0378 4
  • SPBC110 3
  • Spc110 3
  • CAST1 3
  • ELKSL 3
  • CAST 3

External Ids for ERC2 Gene

Previous GeneCards Identifiers for ERC2 Gene

  • GC03M055520

Summaries for ERC2 Gene

Entrez Gene Summary for ERC2 Gene

  • This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

GeneCards Summary for ERC2 Gene

ERC2 (ELKS/RAB6-Interacting/CAST Family Member 2) is a Protein Coding gene. Among its related pathways are Neuroscience and Diurnally regulated genes with circadian orthologs. An important paralog of this gene is ERC1.

UniProtKB/Swiss-Prot for ERC2 Gene

  • Thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act together with BSN. May recruit liprin-alpha proteins to the CAZ

Gene Wiki entry for ERC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERC2 Gene

Genomics for ERC2 Gene

Regulatory Elements for ERC2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ERC2 Gene

Chromosome:
3
Start:
55,508,308 bp from pter
End:
56,468,366 bp from pter
Size:
960,059 bases
Orientation:
Minus strand

Genomic View for ERC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ERC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERC2 Gene

Proteins for ERC2 Gene

  • Protein details for ERC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15083-ERC2_HUMAN
    Recommended name:
    ERC protein 2
    Protein Accession:
    O15083
    Secondary Accessions:
    • Q2T9F6
    • Q86TK4

    Protein attributes for ERC2 Gene

    Size:
    957 amino acids
    Molecular mass:
    110558 Da
    Quaternary structure:
    • Interacts with BSN, ERC1, PPFIA1, PPFIA2, PPFIA3 and PPFIA4. Interacts through its C-terminus with the PDZ domain of RIMS1. Part of a complex consisting of ERC2, RIMS1 and UNC13A.
    SequenceCaution:
    • Sequence=BAA20832.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ERC2 Gene

Proteomics data for ERC2 Gene at MOPED

Post-translational modifications for ERC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ERC2 Gene

No data available for DME Specific Peptides for ERC2 Gene

Domains & Families for ERC2 Gene

Protein Domains for ERC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ERC2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ERC2 Gene

Function for ERC2 Gene

Molecular function for ERC2 Gene

UniProtKB/Swiss-Prot Function:
Thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act together with BSN. May recruit liprin-alpha proteins to the CAZ

Gene Ontology (GO) - Molecular Function for ERC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12923177
genes like me logo Genes that share ontologies with ERC2: view
genes like me logo Genes that share phenotypes with ERC2: view

Animal Models for ERC2 Gene

MGI Knock Outs for ERC2:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERC2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ERC2 Gene

Localization for ERC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERC2 Gene

Cytoplasm. Cell junction, synapse. Cell junction, synapse, synaptosome. Cytoplasm, cytoskeleton. Note=In neurons, localized to synapses, and colocalizes with PCLO. Localized to the active zone of presynaptic density (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERC2 Gene COMPARTMENTS Subcellular localization image for ERC2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for ERC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0030054 cell junction IEA --
GO:0030426 growth cone ISS --
GO:0042734 presynaptic membrane ISS --
genes like me logo Genes that share ontologies with ERC2: view

Pathways & Interactions for ERC2 Gene

genes like me logo Genes that share pathways with ERC2: view

Pathways by source for ERC2 Gene

1 Qiagen pathway for ERC2 Gene
1 Cell Signaling Technology pathway for ERC2 Gene
1 BioSystems pathway for ERC2 Gene

Gene Ontology (GO) - Biological Process for ERC2 Gene

None

No data available for SIGNOR curated interactions for ERC2 Gene

Drugs & Compounds for ERC2 Gene

No Compound Related Data Available

Transcripts for ERC2 Gene

Unigene Clusters for ERC2 Gene

ELKS/RAB6-interacting/CAST family member 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERC2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERC2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d
SP1: - - - - - -
SP2: - -
SP3: -
SP4:
SP5: -
SP6:
SP7: - - - - -
SP8:

Relevant External Links for ERC2 Gene

GeneLoc Exon Structure for
ERC2
ECgene alternative splicing isoforms for
ERC2

Expression for ERC2 Gene

mRNA expression in normal human tissues for ERC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ERC2 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x7.6), Brain - Frontal Cortex (BA9) (x7.0), Brain - Amygdala (x5.9), Brain - Cortex (x4.9), and Brain - Hippocampus (x4.3).

Protein differential expression in normal tissues from HIPED for ERC2 Gene

This gene is overexpressed in Brain (44.2) and Esophagus (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ERC2 Gene



SOURCE GeneReport for Unigene cluster for ERC2 Gene Hs.476389

genes like me logo Genes that share expression patterns with ERC2: view

Protein tissue co-expression partners for ERC2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ERC2 Gene

Orthologs for ERC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ERC2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ERC2 35
  • 93.45 (n)
  • 99.48 (a)
ERC2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erc2 35
  • 90.65 (n)
  • 99.05 (a)
Erc2 16
Erc2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERC2 35
  • 99.76 (n)
  • 99.9 (a)
ERC2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erc2 35
  • 90.12 (n)
  • 98.45 (a)
cow
(Bos Taurus)
Mammalia ERC2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERC2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 57 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves ERC2 35
  • 82.1 (n)
  • 97.07 (a)
ERC2 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERC2 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erc2 35
  • 76.96 (n)
  • 87.29 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC572002 35
  • 72.19 (n)
  • 81.95 (a)
CR936337.1 36
  • 82 (a)
OneToMany
ERC2 (2 of 2) 36
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta brp 36
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elks-1 36
  • 13 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4539 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for ERC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)

Evolution for ERC2 Gene

ENSEMBL:
Gene Tree for ERC2 (if available)
TreeFam:
Gene Tree for ERC2 (if available)

Paralogs for ERC2 Gene

Paralogs for ERC2 Gene

(1) SIMAP similar genes for ERC2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ERC2: view

Variants for ERC2 Gene

Sequence variations from dbSNP and Humsavar for ERC2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1008 -- 55,842,748(-) TTTCT(C/T)GAGAT intron-variant
rs4111 -- 55,920,187(-) ACATT(G/T)TTAAA intron-variant
rs168593 -- 55,623,677(-) tatga(A/G)ccaga intron-variant
rs187205 -- 55,626,846(-) CTTGT(C/T)CAGGG intron-variant
rs193317 -- 55,602,717(+) CTAAC(A/G)CAACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ERC2 Gene

Variant ID Type Subtype PubMed ID
nsv517851 CNV Gain 19592680
dgv1458e1 CNV Complex 17122850
nsv520599 CNV Loss 19592680
nsv822096 CNV Loss 20364138
esv260068 OTHER Complex 20981092
nsv508929 CNV Insertion 20534489
nsv508930 CNV Insertion 20534489
nsv3831 CNV Insertion 18451855
esv1005418 CNV Insertion 20482838
esv274377 CNV Insertion 20981092
esv269009 CNV Insertion 20981092
nsv876814 CNV Gain 21882294
esv2674565 CNV Deletion 23128226
esv2725295 CNV Deletion 23290073
nsv235 CNV Insertion 15895083
nsv3833 CNV Insertion 18451855
esv271054 CNV Insertion 20981092
esv2668864 CNV Deletion 23128226
nsv876815 CNV Gain 21882294
esv2645094 CNV Deletion 19546169
esv1936904 CNV Deletion 18987734
esv2659142 CNV Deletion 23128226
esv2662090 CNV Deletion 23128226
esv1042880 CNV Insertion 17803354
nsv509825 CNV Loss 20534489
nsv509826 CNV Loss 20534489
nsv3834 CNV Insertion 18451855
nsv522496 CNV Loss 19592680
esv2725297 CNV Deletion 23290073
esv2725298 CNV Deletion 23290073
nsv876816 CNV Gain 21882294
esv2668305 CNV Deletion 23128226

Variation tolerance for ERC2 Gene

Residual Variation Intolerance Score: 3.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.17; 69.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERC2 Gene

HapMap Linkage Disequilibrium report
ERC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERC2 Gene

Disorders for ERC2 Gene

Relevant External Links for ERC2

Genetic Association Database (GAD)
ERC2
Human Genome Epidemiology (HuGE) Navigator
ERC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERC2
genes like me logo Genes that share disorders with ERC2: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ERC2 Gene

Publications for ERC2 Gene

  1. Proximal region of the gene encoding cytadherence-related protein permits molecular typing of Mycoplasma genitalium clinical strains by PCR-restriction fragment length polymorphism. (PMID: 16455921) Musatovova O. … Baseman J.B. (J. Clin. Microbiol. 2006) 23 67
  2. Differential distribution of release-related proteins in the hippocampal CA3 area as revealed by freeze-fracture replica labeling. (PMID: 15983999) Hagiwara A. … Shigemoto R. (J. Comp. Neurol. 2005) 23 67
  3. ELKS, a protein structurally related to the active zone-associated protein CAST, is expressed in pancreatic beta cells and functions in insulin exocytosis: interaction of ELKS with exocytotic machinery analyzed by total internal reflection fluorescence microscopy. (PMID: 15888548) Ohara-Imaizumi M. … Nagamatsu S. (Mol. Biol. Cell 2005) 23 67
  4. Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release. (PMID: 14734538) Takao-Rikitsu E. … Takai Y. (J. Cell Biol. 2004) 23 67
  5. Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins. (PMID: 12923177) Ko J. … Kim E. (J. Biol. Chem. 2003) 23 67

Products for ERC2 Gene

Sources for ERC2 Gene

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