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ERC2 ELKS/RAB6-interacting/CAST family member 2 [ Homo sapiens (human) ]

Gene ID: 26059, updated on 5-Mar-2024

Summary

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Official Symbol
ERC2provided by HGNC
Official Full Name
ELKS/RAB6-interacting/CAST family member 2provided by HGNC
Primary source
HGNC:HGNC:31922
See related
Ensembl:ENSG00000187672 MIM:617250; AllianceGenome:HGNC:31922
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAST; CAST1; ELKSL; Spc110; SPBC110
Summary
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]
Expression
Biased expression in brain (RPKM 9.8) and ovary (RPKM 0.5) See more
Orthologs
mouse all
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Genomic context

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See ERC2 in Genome Data Viewer
Location:
3p14.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (55508311..56468467, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (55542510..56508891, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (55542339..56502495, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909383 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:55508124-55508358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:55515943-55516553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:55522958-55523468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:55523469-55523980 Neighboring gene VISTA enhancer hs1472 Neighboring gene NANOG hESC enhancer GRCh37_chr3:55545884-55546385 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:55553529-55554030 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:55589475-55589976 Neighboring gene WNT5A antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:55605047-55605674 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:55605675-55606302 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:55612193-55612392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:55610793-55611315 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:55615025-55615237 Neighboring gene uncharacterized LOC105377100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19976 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:55649046-55649821 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:55649822-55650596 Neighboring gene Wnt family member 5A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:55681397-55681910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:55681911-55682424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:55698537-55699037 Neighboring gene ERC2 intronic transcript 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:55865502-55866002 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:55866003-55866503 Neighboring gene NANOG hESC enhancer GRCh37_chr3:55922467-55922978 Neighboring gene microRNA 3938 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:56045180-56045364 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:56116766-56116940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:56144795-56145606 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:56145607-56146417 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:56149711-56150211 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:56157494-56158036 Neighboring gene RN7SK pseudogene 45 Neighboring gene RNA, 5S ribosomal pseudogene 133 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:56288084-56288696 Neighboring gene NANOG hESC enhancer GRCh37_chr3:56469501-56470002 Neighboring gene uncharacterized LOC105377099 Neighboring gene Sharpr-MPRA regulatory region 10072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:56590646-56591318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:56591319-56591990 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:56716124-56717068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14471 Neighboring gene coiled-coil domain containing 66 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:56796980-56797857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19982 Neighboring gene transcription activation suppressor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14472 Neighboring gene Sharpr-MPRA regulatory region 9253 Neighboring gene Rho guanine nucleotide exchange factor 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:56886037-56887236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14474 Neighboring gene Sharpr-MPRA regulatory region 9226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:56949810-56950362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:56950363-56950913 Neighboring gene ARHGEF3 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome. Cheng P, et al. Front Endocrinol (Lausanne), 2021. PMID 34790172, Free PMC Article
  2. Serine-Arginine Protein Kinase SRPK2 Modulates the Assembly of the Active Zone Scaffolding Protein CAST1/ERC2. Arancibia D, et al. Cells, 2019 Oct 29. PMID 31671734, Free PMC Article
  3. Molecular dissection of the photoreceptor ribbon synapse: physical interaction of Bassoon and RIBEYE is essential for the assembly of the ribbon complex. tom Dieck S, et al. J Cell Biol, 2005 Feb 28. PMID 15728193, Free PMC Article
  4. Leukocyte-specific protein 1 targets the ERK/MAP kinase scaffold protein KSR and MEK1 and ERK2 to the actin cytoskeleton. Harrison RE, et al. J Cell Sci, 2004 Apr 15. PMID 15090600
  5. CAST2: identification and characterization of a protein structurally related to the presynaptic cytomatrix protein CAST. Deguchi-Tawarada M, et al. Genes Cells, 2004 Jan. PMID 14723704

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.
    Title: IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.
  2. Serine-Arginine Protein Kinase SRPK2 Modulates the Assembly of the Active Zone Scaffolding Protein CAST1/ERC2.
    Title: Serine-Arginine Protein Kinase SRPK2 Modulates the Assembly of the Active Zone Scaffolding Protein CAST1/ERC2.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
  5. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
  6. In vitro results indicate that ERC2/CAST, an active zone-specific isoform, interacts with all of the known isoforms of liprin-alpha and that liprin-alpha1 associates with both ERC2 and ERC1b
    Title: Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.
EBI GWAS Catalog
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
EBI GWAS Catalog
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0378, MGC133063, MGC133064

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in maintenance of presynaptic active zone structure IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of calcium-dependent activation of synaptic vesicle fusion IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of presynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic vesicle priming IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoskeleton of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in growth cone ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in presynaptic active zone TAS
Traceable Author Statement
more info
 PubMed 
located_in presynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
ERC protein 2
Names
CAZ-associated structural protein
cytomatrix protein p110

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015576.3 → NP_056391.1  ERC protein 2

    See identical proteins and their annotated locations for NP_056391.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the supported protein.
    Source sequence(s)
    AA826430, AB002376, AC098478, BC060881
    Consensus CDS
    CCDS46851.1
    UniProtKB/Swiss-Prot
    O15083, Q2T9F6, Q86TK4
    Related
    ENSP00000288221.6, ENST00000288221.11
    Conserved Domains (3) summary
    pfam01496
    Location:390 → 474
    V_ATPase_I; V-type ATPase 116kDa subunit family
    pfam10174
    Location:151 → 911
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam16046
    Location:488 → 555
    FAM76; FAM76 protein

RNA

  1. NR_132749.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA826430, AB002376, AC098478, BC060881, BC111550

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    55508311..56468467 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006156.2 → XP_016861645.1  ERC protein 2 isoform X12

  2. XM_047447950.1 → XP_047303906.1  ERC protein 2 isoform X12

  3. XM_047447952.1 → XP_047303908.1  ERC protein 2 isoform X13

  4. XM_017006148.2 → XP_016861637.1  ERC protein 2 isoform X9

  5. XM_047447948.1 → XP_047303904.1  ERC protein 2 isoform X9

  6. XM_017006151.2 → XP_016861640.1  ERC protein 2 isoform X10

  7. XM_017006146.2 → XP_016861635.1  ERC protein 2 isoform X8

    Conserved Domains (1) summary
    TIGR02168
    Location:189 → 875
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  8. XM_047447947.1 → XP_047303903.1  ERC protein 2 isoform X7

  9. XM_047447946.1 → XP_047303902.1  ERC protein 2 isoform X7

  10. XM_047447949.1 → XP_047303905.1  ERC protein 2 isoform X11

    UniProtKB/TrEMBL
    H7C4G9
    Related
    ENSP00000417280.3, ENST00000492584.3

  11. XM_047447943.1 → XP_047303899.1  ERC protein 2 isoform X4

  12. XM_017006142.2 → XP_016861631.1  ERC protein 2 isoform X5

  13. XM_017006141.2 → XP_016861630.1  ERC protein 2 isoform X2

  14. XM_047447944.1 → XP_047303900.1  ERC protein 2 isoform X6

  15. XM_047447945.1 → XP_047303901.1  ERC protein 2 isoform X6

  16. XM_047447942.1 → XP_047303898.1  ERC protein 2 isoform X3

  17. XM_047447941.1 → XP_047303897.1  ERC protein 2 isoform X1

  18. XM_047447951.1 → XP_047303907.1  ERC protein 2 isoform X13

  19. XM_047447953.1 → XP_047303909.1  ERC protein 2 isoform X14

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    55542510..56508891 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346141.1 → XP_054202116.1  ERC protein 2 isoform X12

  2. XM_054346140.1 → XP_054202115.1  ERC protein 2 isoform X12

  3. XM_054346143.1 → XP_054202118.1  ERC protein 2 isoform X13

  4. XM_054346137.1 → XP_054202112.1  ERC protein 2 isoform X9

  5. XM_054346136.1 → XP_054202111.1  ERC protein 2 isoform X9

  6. XM_054346138.1 → XP_054202113.1  ERC protein 2 isoform X10

  7. XM_054346135.1 → XP_054202110.1  ERC protein 2 isoform X8

  8. XM_054346134.1 → XP_054202109.1  ERC protein 2 isoform X7

  9. XM_054346139.1 → XP_054202114.1  ERC protein 2 isoform X11

    UniProtKB/TrEMBL
    H7C4G9

  10. XM_054346130.1 → XP_054202105.1  ERC protein 2 isoform X4

  11. XM_054346131.1 → XP_054202106.1  ERC protein 2 isoform X5

  12. XM_054346128.1 → XP_054202103.1  ERC protein 2 isoform X2

  13. XM_054346133.1 → XP_054202108.1  ERC protein 2 isoform X6

  14. XM_054346132.1 → XP_054202107.1  ERC protein 2 isoform X6

  15. XM_054346129.1 → XP_054202104.1  ERC protein 2 isoform X3

  16. XM_054346127.1 → XP_054202102.1  ERC protein 2 isoform X1

  17. XM_054346142.1 → XP_054202117.1  ERC protein 2 isoform X13

  18. XM_054346144.1 → XP_054202119.1  ERC protein 2 isoform X14

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15083.3 GenPept UniProtKB/Swiss-Prot:O15083

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