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

    Gene ID: 26059, updated on 14-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (55508311..56468467, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (55542510..56508891, complement)
    RS_2024_09 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 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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    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)

    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 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 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
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    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 
    is_active_in presynaptic active zone cytoplasmic component IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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