ERC2 Gene

Name	ELKS/RAB6-interacting/CAST family member 2
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ERC2—also known as CAST, a member of the ELKS‐Rab6–interacting/CAST protein family—is an integral component of the presynaptic active zone that functions as a molecular scaffold to orchestrate neurotransmitter release. Studies have shown that ERC2 directly interacts with liprin‐α isoforms, thereby facilitating the synaptic localization of liprin‐α and contributing to the molecular organization of presynaptic active zones."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Disruption of ERC2 function has been linked to a reduction in the size of active zones, alterations in their Ca<sup>2+</sup> channel complement, and consequent changes in synaptic transmission"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", highlighting its essential role in maintaining proper presynaptic structure and function. Moreover, biochemical investigations reveal that ERC2 forms complexes with voltage‐dependent Ca<sup>2+</sup> channels to modulate their activation properties, implicating ERC2 in the fine-tuning of neurotransmitter release mechanisms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Expanding on its interaction network, proteomic analyses in neuronal systems identified ERC2 as a binding partner of E3 ubiquitin ligases such as LNX1, suggesting that ERC2 may also contribute to the regulation of key synaptic proteins via ubiquitination pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In addition, studies focusing on the self‐assembly properties of active zone proteins have demonstrated that ERC2’s coiled-coil domains support its synaptic recruitment and oligomerization, critical steps in assembling the cytomatrix at the active zone."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Interestingly, a somatic mutation (L309I) in ERC2 has been implicated in Maffucci’s syndrome, where it is proposed to contribute to hypervascularization and hemangioma formation. This finding expands the functional spectrum of ERC2 beyond its classical role in neurotransmission and suggests that its dysregulation may impact angiogenic pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jaewon Ko, Moonseok Na, Seho Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M307561200"}], "href": "https://doi.org/10.1074/jbc.M307561200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12923177"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12923177"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Susanne tom Dieck, Dana Specht, Nicola Strenzke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deletion of the presynaptic scaffold CAST reduces active zone size in rod photoreceptors and impairs visual processing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.0752-12.2012"}], "href": "https://doi.org/10.1523/JNEUROSCI.0752-12.2012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22933801"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22933801"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Shigeki Kiyonaka, Hiroshi Nakajima, Yoshinori Takada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Physical and functional interaction of the active zone protein CAST/ERC2 and the β-subunit of the voltage-dependent Ca(2+) channel."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biochem (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jb/mvs054"}], "href": "https://doi.org/10.1093/jb/mvs054"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22577167"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22577167"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Joan A Lenihan, Orthis Saha, Victoria Heimer-McGinn, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Decreased Anxiety-Related Behaviour but Apparently Unperturbed NUMB Function in Ligand of NUMB Protein-X (LNX) 1/2 Double Knockout Mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Neurobiol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12035-016-0261-0"}], "href": "https://doi.org/10.1007/s12035-016-0261-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27889896"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27889896"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Joan A Lenihan, Orthis Saha, Paul W Young "}, {"type": "b", "children": [{"type": "t", "text": "Proteomic analysis reveals novel ligands and substrates for LNX1 E3 ubiquitin ligase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0187352"}], "href": "https://doi.org/10.1371/journal.pone.0187352"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29121065"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29121065"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Duxan Arancibia, Matias Lira, Yocelin Cruz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Serine-Arginine Protein Kinase SRPK2 Modulates the Assembly of the Active Zone Scaffolding Protein CAST1/ERC2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cells (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/cells8111333"}], "href": "https://doi.org/10.3390/cells8111333"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31671734"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31671734"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Peng Cheng, Kun Chen, Shu Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Endocrinol (Lausanne) (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fendo.2021.763349"}], "href": "https://doi.org/10.3389/fendo.2021.763349"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34790172"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34790172"}]}]}]}
Synonyms	SPBC110, SPC110, CAST1, ELKSL
Proteins	ERC2_HUMAN
NCBI Gene ID	26059
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ERC2 has 9,580 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 120 datasets.

Click the + buttons to view associations for ERC2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ERC2 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ERC2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ERC2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ERC2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ERC2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ERC2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ERC2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ERC2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ERC2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ERC2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ERC2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ERC2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ERC2 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ERC2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ERC2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ERC2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ERC2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of ERC2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ERC2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ERC2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ERC2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ERC2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ERC2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ERC2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ERC2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ERC2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ERC2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ERC2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ERC2 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ERC2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ERC2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ERC2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ERC2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ERC2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ERC2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ERC2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ERC2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ERC2 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ERC2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ERC2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ERC2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.