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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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See Synpo2l in Genome Data Viewer
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

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