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

Summary

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 blood vessel; embryo mesenchyme; extrinsic ocular pre-muscle mass; heart; and musculature. Orthologous to human SYNPO2L (synaptopodin 2 like). [provided by Alliance of Genome Resources, Dec 2024]
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

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_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Direct Binding of Synaptopodin 2-Like Protein to Alpha-Actinin Contributes to Actin Bundle Formation in Cardiomyocytes.
Title: Direct Binding of Synaptopodin 2-Like Protein to Alpha-Actinin Contributes to Actin Bundle Formation in Cardiomyocytes.
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.
essential for heart and skeletal muscle function
Title: CHAP is a newly identified Z-disc protein essential for heart and skeletal muscle function.
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.

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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

Synpo2l (e-PCR), detects polymorphism
- UniSTS:530582

Synpo2l (e-PCR), detects polymorphism
- UniSTS:530583

Synpo2l (e-PCR), detects polymorphism
- UniSTS:530584

Synpo2l (e-PCR), detects polymorphism
- UniSTS:530585

Synpo2l (e-PCR), detects polymorphism
- UniSTS:530586

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	IEA Inferred from Electronic Annotation 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 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)

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) ...
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
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

NC_000080.7 Reference GRCm39 C57BL/6J

Range

20709013..20718422 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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