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    Erc2 ELKS/RAB6-interacting/CAST family member 2 [ Mus musculus (house mouse) ]

    Gene ID: 238988, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Erc2provided by MGI
    Official Full Name
    ELKS/RAB6-interacting/CAST family member 2provided by MGI
    Primary source
    MGI:MGI:1098749
    See related
    Ensembl:ENSMUSG00000040640 AllianceGenome:MGI:1098749
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CAST; CAST1; CAST1/ERC2; ELKS2alpha; D14Ertd171e
    Summary
    A structural constituent of presynaptic active zone. Involved in regulation of calcium-dependent activation of synaptic vesicle fusion; regulation of presynaptic cytosolic calcium ion concentration; and synaptic vesicle priming. Located in synapse. Is active in GABA-ergic synapse; glutamatergic synapse; and presynaptic active zone cytoplasmic component. Is expressed in several structures, including central nervous system; gut; peripheral nervous system ganglion; sensory organ; and urinary system. Orthologous to human ERC2 (ELKS/RAB6-interacting/CAST family member 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in CNS E18 (RPKM 6.8), frontal lobe adult (RPKM 6.0) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Erc2 in Genome Data Viewer
    Location:
    14 A3; 14 16.51 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (27344232..28200494)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (27622275..28478537)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_36276 Neighboring gene predicted gene, 25697 Neighboring gene predicted gene 7604 Neighboring gene STARR-seq mESC enhancer starr_36278 Neighboring gene STARR-seq mESC enhancer starr_36279 Neighboring gene aconitase 2, mitochondrial pseudogene Neighboring gene predicted gene 45645 Neighboring gene predicted gene, 34996 Neighboring gene STARR-seq mESC enhancer starr_36280 Neighboring gene STARR-seq mESC enhancer starr_36281 Neighboring gene STARR-seq mESC enhancer starr_36282 Neighboring gene predicted gene, 53838 Neighboring gene predicted gene, 52097 Neighboring gene wingless-type MMTV integration site family, member 5A Neighboring gene predicted gene, 35164

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The active zone protein CAST regulates synaptic vesicle recycling and quantal size in the mouse hippocampus. Kobayashi S, et al. Eur J Neurosci, 2016 Sep. PMID 27422015
    2. Physical and functional interaction of the active zone protein CAST/ERC2 and the β-subunit of the voltage-dependent Ca(2+) channel. Kiyonaka S, et al. J Biochem, 2012 Aug. PMID 22577167
    3. Double deletion of the active zone proteins CAST/ELKS in the mouse forebrain causes high mortality of newborn pups. Hagiwara A, et al. Mol Brain, 2020 Jan 29. PMID 31996256, Free PMC Article
    4. ELKS2alpha/CAST deletion selectively increases neurotransmitter release at inhibitory synapses. Kaeser PS, et al. Neuron, 2009 Oct 29. PMID 19874790, Free PMC Article
    5. Deletion of the presynaptic scaffold CAST reduces active zone size in rod photoreceptors and impairs visual processing. tom Dieck S, et al. J Neurosci, 2012 Aug 29. PMID 22933801, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Double deletion of the active zone proteins CAST/ELKS in the mouse forebrain causes high mortality of newborn pups.
      Title: Double deletion of the active zone proteins CAST/ELKS in the mouse forebrain causes high mortality of newborn pups.
    2. CAST supports large active zone size and high rates of transmission at rod ribbon synapses, which are required for normal vision.
      Title: Deletion of the presynaptic scaffold CAST reduces active zone size in rod photoreceptors and impairs visual processing.
    3. CAST (cytomatrix at the active zone structural protein) playes pivotal roles in both presynaptic regulation of quantal size and recycling of endocytosed synaptic vesicles.
      Title: The active zone protein CAST regulates synaptic vesicle recycling and quantal size in the mouse hippocampus.
    4. CAST/SAD-B reaction serves as a brake on synaptic transmission
      Title: SAD-B Phosphorylation of CAST Controls Active Zone Vesicle Recycling for Synaptic Depression.
    5. the direct binding of CAST and the voltage-dependent Ca(2+) channel beta4-subunit (VDCC) regulates the opening of the functional VDCC complex
      Title: Physical and functional interaction of the active zone protein CAST/ERC2 and the β-subunit of the voltage-dependent Ca(2+) channel.
    6. The ELKS2alpha is essential for mediating neurotransmitter release, our results suggest that ELKS2alpha normally restricts release and limits the size of the readily-releasable pool of synaptic vesicles at the active zone of inhibitory synapses.
      Title: ELKS2alpha/CAST deletion selectively increases neurotransmitter release at inhibitory synapses.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables PDZ domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables structural constituent of presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of presynaptic active zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables structural constituent of presynaptic active zone IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    enables structural constituent of presynaptic active zone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in maintenance of presynaptic active zone structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maintenance of presynaptic active zone structure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of calcium-dependent activation of synaptic vesicle fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of calcium-dependent activation of synaptic vesicle fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of presynaptic cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of presynaptic cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptic vesicle priming IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic vesicle priming IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in GABA-ergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in Golgi-associated vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in growth cone ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in presynaptic active zone ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in presynaptic active zone cytoplasmic component IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in presynaptic active zone cytoplasmic component IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in presynaptic active zone cytoplasmic component ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in presynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in presynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in terminal bouton ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ERC protein 2
    Names
    CAZ-associated structural protein 1

    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_001347497.2 → NP_001334426.1  ERC protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC138300, AC154637, AC154729, CT010523, CT025649, CT025681
      Consensus CDS
      CCDS84102.1
      UniProtKB/TrEMBL
      Q3UHT7, Q5J8K8
      Related
      ENSMUSP00000147981.2, ENSMUST00000210135.2

    2. NM_001404934.1 → NP_001391863.1  ERC protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC138300, AC154637, AC154729, CT010523, CT025649, CT025681

    3. NM_001404935.1 → NP_001391864.1  ERC protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC138300, AC154637, AC154729, CT010523, CT025649, CT025681

    4. NM_001404936.1 → NP_001391865.1  ERC protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC138300, AC154637, AC154729, CT010523, CT025649, CT025681

    5. NM_001404937.1 → NP_001391866.1  ERC protein 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC138300, AC154637, AC154729, CT010523, CT025649, CT025681
      UniProtKB/Swiss-Prot
      Q6PH08, Q80U20, Q8CCP1
      UniProtKB/TrEMBL
      Q5J8K6
      Related
      ENSMUSP00000147886.2, ENSMUST00000211145.2

    6. NM_177814.6 → NP_808482.2  ERC protein 2 isoform 1

      See identical proteins and their annotated locations for NP_808482.2

      Status: VALIDATED

      Source sequence(s)
      AC138300, AC154637, AC154729, CT010523, CT025649, CT025681
      Consensus CDS
      CCDS26887.1
      UniProtKB/TrEMBL
      Q5J8K5
      Related
      ENSMUSP00000087773.6, ENSMUST00000090302.6
      Conserved Domains (3) summary
      pfam10174
      Location:151 → 907
      Cast; RIM-binding protein of the cytomatrix active zone
      pfam16046
      Location:488 → 555
      FAM76; FAM76 protein
      cl23887
      Location:531 → 652
      DUF4349; Domain of unknown function (DUF4349)

    RNA

    1. NR_175892.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC138300, AC154637, AC154729, CT010523, CT025649, CT025681

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      27344232..28200494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006518931.3 → XP_006518994.1  ERC protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006518994.1

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 924
      Cast; RIM-binding protein of the cytomatrix active zone

    2. XM_036158582.1 → XP_036014475.1  ERC protein 2 isoform X3

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 916
      Cast; RIM-binding protein of the cytomatrix active zone

    3. XM_006518937.3 → XP_006519000.1  ERC protein 2 isoform X9

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 938
      Cast; RIM-binding protein of the cytomatrix active zone

    4. XM_006518939.3 → XP_006519002.1  ERC protein 2 isoform X13

      See identical proteins and their annotated locations for XP_006519002.1

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 924
      Cast; RIM-binding protein of the cytomatrix active zone

    5. XM_006518930.3 → XP_006518993.1  ERC protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006518993.1

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 924
      Cast; RIM-binding protein of the cytomatrix active zone

    6. XM_006518938.3 → XP_006519001.1  ERC protein 2 isoform X11

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 931
      Cast; RIM-binding protein of the cytomatrix active zone

    7. XM_006518932.4 → XP_006518995.1  ERC protein 2 isoform X2

      UniProtKB/TrEMBL
      Q5J8K7
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 920
      Cast; RIM-binding protein of the cytomatrix active zone

    8. XM_017315995.2 → XP_017171484.1  ERC protein 2 isoform X12

      UniProtKB/TrEMBL
      Q5J8K5
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 927
      Cast; RIM-binding protein of the cytomatrix active zone

    9. XM_006518934.3 → XP_006518997.1  ERC protein 2 isoform X4

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 912
      Cast; RIM-binding protein of the cytomatrix active zone

    10. XM_006518943.3 → XP_006519006.1  ERC protein 2 isoform X15

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 919
      Cast; RIM-binding protein of the cytomatrix active zone

    11. XM_017315999.2 → XP_017171488.1  ERC protein 2 isoform X19

      UniProtKB/TrEMBL
      Q5J8K7
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 908
      Cast; RIM-binding protein of the cytomatrix active zone

    12. XM_006518935.3 → XP_006518998.1  ERC protein 2 isoform X6

      UniProtKB/TrEMBL
      Q5J8K7
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 908
      Cast; RIM-binding protein of the cytomatrix active zone

    13. XM_017316003.2 → XP_017171492.1  ERC protein 2 isoform X21

      UniProtKB/TrEMBL
      Q5J8K5
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 915
      Cast; RIM-binding protein of the cytomatrix active zone

    14. XM_017315997.2 → XP_017171486.1  ERC protein 2 isoform X16

      UniProtKB/TrEMBL
      Q5J8K5
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 915
      Cast; RIM-binding protein of the cytomatrix active zone

    15. XM_006518933.3 → XP_006518996.1  ERC protein 2 isoform X3

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 916
      Cast; RIM-binding protein of the cytomatrix active zone

    16. XM_006518942.3 → XP_006519005.1  ERC protein 2 isoform X14

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 923
      Cast; RIM-binding protein of the cytomatrix active zone

    17. XM_036158583.1 → XP_036014476.1  ERC protein 2 isoform X5

      UniProtKB/TrEMBL
      Q5J8K7
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 912
      Cast; RIM-binding protein of the cytomatrix active zone

    18. XM_036158584.1 → XP_036014477.1  ERC protein 2 isoform X7

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 904
      Cast; RIM-binding protein of the cytomatrix active zone

    19. XM_006518945.3 → XP_006519008.1  ERC protein 2 isoform X18

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 911
      Cast; RIM-binding protein of the cytomatrix active zone

    20. XM_006518944.3 → XP_006519007.1  ERC protein 2 isoform X17

      UniProtKB/TrEMBL
      Q5J8K7
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 914
      Cast; RIM-binding protein of the cytomatrix active zone

    21. XM_006518936.3 → XP_006518999.1  ERC protein 2 isoform X8

      UniProtKB/TrEMBL
      Q5J8K7
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 900
      Cast; RIM-binding protein of the cytomatrix active zone

    22. XM_006518940.3 → XP_006519003.1  ERC protein 2 isoform X13

      See identical proteins and their annotated locations for XP_006519003.1

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 924
      Cast; RIM-binding protein of the cytomatrix active zone

    23. XM_011245046.3 → XP_011243348.1  ERC protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011243348.1

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 924
      Cast; RIM-binding protein of the cytomatrix active zone

    24. XM_011245047.3 → XP_011243349.1  ERC protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011243349.1

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 924
      Cast; RIM-binding protein of the cytomatrix active zone

    25. XM_030247785.2 → XP_030103645.1  ERC protein 2 isoform X3

      UniProtKB/TrEMBL
      Q5J8K8
      Conserved Domains (1) summary
      pfam10174
      Location:151 → 916
      Cast; RIM-binding protein of the cytomatrix active zone

    26. XM_006518949.5 → XP_006519012.1  ERC protein 2 isoform X24

      Conserved Domains (1) summary
      pfam10174
      Location:4 → 562
      Cast; RIM-binding protein of the cytomatrix active zone

    27. XM_006518948.5 → XP_006519011.1  ERC protein 2 isoform X22

      Conserved Domains (1) summary
      pfam10174
      Location:25 → 582
      Cast; RIM-binding protein of the cytomatrix active zone

    28. XM_036158587.1 → XP_036014480.1  ERC protein 2 isoform X23

      Conserved Domains (1) summary
      pfam10174
      Location:25 → 566
      Cast; RIM-binding protein of the cytomatrix active zone

    29. XM_006518950.5 → XP_006519013.1  ERC protein 2 isoform X25

      UniProtKB/Swiss-Prot
      Q6PH08
      Related
      ENSMUSP00000147744.2, ENSMUST00000210924.2
      Conserved Domains (1) summary
      pfam10174
      Location:25 → 577
      Cast; RIM-binding protein of the cytomatrix active zone

    RNA

    1. XR_004938391.1 RNA Sequence

    2. XR_383172.4 RNA Sequence

    3. XR_383171.4 RNA Sequence

    4. XR_001781113.2 RNA Sequence

    5. XR_004938392.1 RNA Sequence

    6. XR_001781115.2 RNA Sequence

    7. XR_001781114.2 RNA Sequence

    8. XR_001781117.2 RNA Sequence

    9. XR_001781116.2 RNA Sequence

    10. XR_001781118.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PH08.2 GenPept UniProtKB/Swiss-Prot:Q6PH08

    Gene LinkOut

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

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