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    Synpo2l synaptopodin 2-like [ Mus musculus (house mouse) ]

    Gene ID: 68760, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Synpo2lprovided by MGI
    Official Full Name
    synaptopodin 2-likeprovided by MGI
    Primary source
    MGI:MGI:1916010
    See related
    Ensembl:ENSMUSG00000039376 AllianceGenome:MGI:1916010
    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
    Chap; 1110054M18Rik
    Summary
    Predicted to enable actin binding activity. Involved in several processes, including positive regulation of Rho protein signal transduction; positive regulation of stress fiber assembly; and sarcomere organization. Located in Z disc and nucleus. Is expressed in several structures, including diaphragm; heart; limb mesenchyme; myotome; and skeletal musculature. Orthologous to human SYNPO2L (synaptopodin 2 like). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in heart adult (RPKM 17.2), limb E14.5 (RPKM 6.4) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    14 A3; 14 11.53 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (20709013..20718422, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (20658945..20668354, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1810062O18 gene Neighboring gene ubiquitin specific peptidase 54 Neighboring gene STARR-positive B cell enhancer ABC_E11565 Neighboring gene STARR-positive B cell enhancer ABC_E7297 Neighboring gene myozenin 1 Neighboring gene STARR-seq mESC enhancer starr_36115 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:21501696-21501849 Neighboring gene SEC24 homolog C, COPII coat complex component Neighboring gene microRNA 6946 Neighboring gene fucosyltransferase 11

    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. Cytoskeletal heart-enriched actin-associated protein (CHAP) is expressed in striated and smooth muscle cells in chick and mouse during embryonic and adult stages. van Eldik W, et al. Int J Dev Biol, 2011. PMID 21948713
    2. Z-disc protein CHAPb induces cardiomyopathy and contractile dysfunction in the postnatal heart. van Eldik W, et al. PLoS One, 2017. PMID 29206857, Free PMC Article
    3. CHAP is a newly identified Z-disc protein essential for heart and skeletal muscle function. Beqqali A, et al. J Cell Sci, 2010 Apr 1. PMID 20215401
    4. Gene discovery by microarray: identification of novel genes induced during growth factor-mediated muscle cell survival and differentiation. Kuninger D, et al. Genomics, 2004 Nov. PMID 15475267
    5. Rearrangement of the Protein Phosphatase 1 Interactome During Heart Failure Progression. Chiang DY, et al. Circulation, 2018 Oct 9. PMID 29669786, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. analysis of CHAP expression in mouse during embryonic and adult stages; CHAP is expressed in the developing heart and somites, as well as muscle precursors of the limb buds in mouse and chick embryos
      Title: Cytoskeletal heart-enriched actin-associated protein (CHAP) is expressed in striated and smooth muscle cells in chick and mouse during embryonic and adult stages.
    2. essential for heart and skeletal muscle function
      Title: CHAP is a newly identified Z-disc protein essential for heart and skeletal muscle function.
    3. Cloning and characterization of CHAP, both a sarcomeric and nuclear protein which is essential for striated muscle development and function. Two isoforms are described: ChapA is predominantly expressed in adult muscle and ChapB in embryonic/fetal muscle.
      Title: CHAP is a newly identified Z-disc protein essential for heart and skeletal muscle function.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of actin filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    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 nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    synaptopodin 2-like protein

    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_001310431.1 → NP_001297360.1  synaptopodin 2-like protein isoform 1

      See identical proteins and their annotated locations for NP_001297360.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK084541, BC137972, BY766488
      Consensus CDS
      CCDS79269.1
      UniProtKB/TrEMBL
      B2RQK7
      Related
      ENSMUSP00000112792.2, ENSMUST00000117386.2
      Conserved Domains (1) summary
      cd00992
      Location:6 → 85
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    2. NM_001310432.1 → NP_001297361.1  synaptopodin 2-like protein isoform 3

      See identical proteins and their annotated locations for NP_001297361.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple exons in the 5' coding region, contains an alternate exon with a distinct 5' UTR and 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform (3), which has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK053054, AK084541, BY150773, BY793296
      Consensus CDS
      CCDS79268.1
      UniProtKB/TrEMBL
      D3YU08
      Related
      ENSMUSP00000112760.2, ENSMUST00000119483.2
      Conserved Domains (1) summary
      PHA03247
      Location:193 → 391
      PHA03247; large tegument protein UL36; Provisional

    3. NM_175132.4 → NP_780341.1  synaptopodin 2-like protein isoform 2

      See identical proteins and their annotated locations for NP_780341.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is three amino acids shorter than isoform 1.
      Source sequence(s)
      AK053054, AK084541, BY766488
      Consensus CDS
      CCDS26849.1
      UniProtKB/Swiss-Prot
      Q8BWB1
      Related
      ENSMUSP00000053176.6, ENSMUST00000057090.12
      Conserved Domains (1) summary
      cd00992
      Location:6 → 82
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    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
      20709013..20718422 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006519488.3 → XP_006519551.1  synaptopodin 2-like protein isoform X1

      See identical proteins and their annotated locations for XP_006519551.1

      UniProtKB/TrEMBL
      D3YU08
      Conserved Domains (1) summary
      PHA03247
      Location:193 → 391
      PHA03247; large tegument protein UL36; Provisional

    2. XM_036158836.1 → XP_036014729.1  synaptopodin 2-like protein isoform X1

      UniProtKB/TrEMBL
      D3YU08
      Conserved Domains (1) summary
      PHA03247
      Location:193 → 391
      PHA03247; large tegument protein UL36; Provisional

    3. XM_006519490.4 → XP_006519553.1  synaptopodin 2-like protein isoform X2

      Conserved Domains (1) summary
      PHA03247
      Location:126 → 324
      PHA03247; large tegument protein UL36; Provisional
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BWB1.1 GenPept UniProtKB/Swiss-Prot:Q8BWB1

    Gene LinkOut

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

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