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

Gene ID: 238988, updated on 21-Apr-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 synaptic vesicle priming. Located in GABA-ergic synapse and glutamatergic synapse. Is active in presynaptic active zone cytoplasmic component. Is expressed in several structures, including gut; limb; nervous system; sensory organ; and urinary system. Orthologous to human ERC2 (ELKS/RAB6-interacting/CAST family member 2). [provided by Alliance of Genome Resources, Apr 2022]
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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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. Impaired experience-dependent maternal care in presynaptic active zone protein CAST-deficient dams. Hagiwara A, et al. Sci Rep, 2020 Mar 23. PMID 32251313, Free PMC Article
  4. 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
  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 (66) 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)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

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
  
acts_upstream_of_or_within maintenance of presynaptic active zone structure IDA
Inferred from Direct Assay
more info
 PubMed 
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 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 regulation of synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
  
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 cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoskeleton of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
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 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 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
  
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

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