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Aliases for ERC2 Gene

Aliases for ERC2 Gene

  • ELKS/RAB6-Interacting/CAST Family Member 2 2 3 5
  • CAZ-Associated Structural Protein 3
  • Cytomatrix Protein P110 3
  • ERC Protein 2 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. Diseases associated with ERC2 include Cardiomyopathy, Dilated, 1P. Among its related pathways are 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERC2 Gene

Genomics for ERC2 Gene

Regulatory Elements for ERC2 Gene

Enhancers for ERC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G056494 1 ENCODE 11.3 -26.5 -26522 0.2 MLX ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 SLC30A9 ERC2 GC03P056532
GH03G056323 0.8 Ensembl ENCODE 9.1 +144.3 144302 1.4 FOSL1 JUND ATF3 GATA2 JUN ZNF600 FOS ERC2 GC03M056325 GC03P056281
GH03G056269 0.6 ENCODE 8.5 +198.3 198272 0.5 CTCF ZNF654 KLF1 JUNB RAD21 ZNF610 SMARCA4 SMC3 WT1 ERC2 GC03P056281 GC03P056185
GH03G056382 0.3 FANTOM5 10.9 +85.4 85409 0.2 ERC2 GC03M056325 LOC105377099
GH03G056253 0.2 ENCODE 8.4 +214.2 214168 1.2 ERC2 GC03P056281 GC03P056185
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERC2 on UCSC Golden Path with GeneCards custom track

Promoters for ERC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152966 466 1801 PKNOX1 ZNF76 GLIS2 ZNF350 SP3 ZNF680 NFYA NFYC REST ZNF398

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

Genes around ERC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for ERC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 ERC2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 3
cytosol 2

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 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:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ERC2 Gene



Protein tissue co-expression partners for ERC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERC2 Gene:

ERC2

SOURCE GeneReport for Unigene cluster for ERC2 Gene:

Hs.476389

Evidence on tissue expression from TISSUES for ERC2 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ERC2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ERC2 35 34
  • 99.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ERC2 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERC2 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERC2 34 35
  • 93.45 (n)
mouse
(Mus musculus)
Mammalia Erc2 16 35 34
  • 90.65 (n)
rat
(Rattus norvegicus)
Mammalia Erc2 34
  • 90.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves ERC2 35 34
  • 82.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERC2 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erc2 34
  • 76.96 (n)
zebrafish
(Danio rerio)
Actinopterygii CR936337.1 35
  • 82 (a)
OneToMany
LOC572002 34
  • 72.19 (n)
ERC2 (2 of 2) 35
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta brp 35
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elks-1 35
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4539 34
Species where no ortholog for ERC2 was found in the sources mined by GeneCards:
  • 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
rs1000003631 -- 55,717,631(+) CACTT(-/CAAC)ACCGT intron-variant
rs1000005325 -- 56,302,005(+) GACAA(C/T)AGCAA intron-variant
rs1000007197 -- 55,787,967(+) TATTA(C/T)TGACT intron-variant
rs1000009357 -- 55,785,873(+) ATGCC(A/G)GCTAC intron-variant
rs1000010263 -- 56,042,395(+) CTATC(A/C/G)TGGGG intron-variant

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

Variant ID Type Subtype PubMed ID
esv1005418 CNV insertion 20482838
esv1042880 CNV insertion 17803354
esv1936904 CNV deletion 18987734
esv2645094 CNV deletion 19546169
esv2659142 CNV deletion 23128226
esv2662090 CNV deletion 23128226
esv2668305 CNV deletion 23128226
esv2668864 CNV deletion 23128226
esv2674565 CNV deletion 23128226
esv2725295 CNV deletion 23290073
esv2725297 CNV deletion 23290073
esv2725298 CNV deletion 23290073
esv2759150 CNV loss 17122850
esv3303094 CNV tandem duplication 20981092
esv3306778 CNV mobile element insertion 20981092
esv3335896 CNV insertion 20981092
esv3359640 CNV insertion 20981092
esv3371872 CNV insertion 20981092
esv3596196 CNV loss 21293372
esv3596198 CNV loss 21293372
esv3596199 CNV loss 21293372
esv3596201 CNV loss 21293372
esv3596203 CNV loss 21293372
esv3596207 CNV loss 21293372
esv3596208 CNV loss 21293372
esv3596209 CNV gain 21293372
nsv1012098 CNV gain 25217958
nsv1013405 CNV gain 25217958
nsv1074595 CNV deletion 25765185
nsv1109517 CNV deletion 24896259
nsv1117338 CNV tandem duplication 24896259
nsv1143051 CNV tandem duplication 24896259
nsv235 CNV insertion 15895083
nsv3831 CNV insertion 18451855
nsv3833 CNV insertion 18451855
nsv3834 CNV insertion 18451855
nsv473412 CNV novel sequence insertion 20440878
nsv475742 CNV novel sequence insertion 20440878
nsv477581 CNV novel sequence insertion 20440878
nsv477635 CNV novel sequence insertion 20440878
nsv478176 CNV novel sequence insertion 20440878
nsv508929 CNV insertion 20534489
nsv508930 CNV insertion 20534489
nsv509825 OTHER sequence alteration 20534489
nsv509826 OTHER sequence alteration 20534489
nsv517851 CNV gain 19592680
nsv520599 CNV loss 19592680
nsv522496 CNV loss 19592680
nsv590361 CNV loss 21841781
nsv822096 CNV loss 20364138
nsv999867 CNV gain 25217958

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERC2

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

Disorders for ERC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ERC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1p
  • dilated cardiomyopathy 1p
- elite association - COSMIC cancer census association via MalaCards
Search ERC2 in MalaCards View complete list of genes associated with diseases

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 UniProtKB/Swiss-Prot and Genatlas for ERC2 Gene

Publications for ERC2 Gene

  1. 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) 3 4 22 64
  2. Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes. (PMID: 21057379) Curtis D. … Gurling H.M. (Psychiatr. Genet. 2011) 3 46 64
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl G.R. … Lerman C. (Arch. Gen. Psychiatry 2008) 3 46 64

Products for ERC2 Gene

Sources for ERC2 Gene

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