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Aliases for SYNPO2 Gene

Aliases for SYNPO2 Gene

  • Synaptopodin 2 2 3 5
  • Genethonin-2 3 4
  • Myopodin 3 4
  • Synaptopodin-2 3

External Ids for SYNPO2 Gene

Previous GeneCards Identifiers for SYNPO2 Gene

  • GC04P120706
  • GC04P120090
  • GC04P120203
  • GC04P120269
  • GC04P120270
  • GC04P120167
  • GC04P119809
  • GC04P115532

Summaries for SYNPO2 Gene

GeneCards Summary for SYNPO2 Gene

SYNPO2 (Synaptopodin 2) is a Protein Coding gene. Diseases associated with SYNPO2 include Duchenne Muscular Dystrophy and Myopathy, Myofibrillar, 2. GO annotations related to this gene include actin binding and muscle alpha-actinin binding. An important paralog of this gene is SYNPO2L.

UniProtKB/Swiss-Prot for SYNPO2 Gene

  • Has an actin-binding and actin-bundling activity.

Gene Wiki entry for SYNPO2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYNPO2 Gene

Genomics for SYNPO2 Gene

Regulatory Elements for SYNPO2 Gene

Enhancers for SYNPO2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SYNPO2 on UCSC Golden Path with GeneCards custom track

Promoters for SYNPO2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for SYNPO2 Gene

Chromosome:
4
Start:
118,850,688 bp from pter
End:
119,061,247 bp from pter
Size:
210,560 bases
Orientation:
Plus strand

Genomic View for SYNPO2 Gene

Genes around SYNPO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYNPO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYNPO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNPO2 Gene

Proteins for SYNPO2 Gene

  • Protein details for SYNPO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMS6-SYNP2_HUMAN
    Recommended name:
    Synaptopodin-2
    Protein Accession:
    Q9UMS6
    Secondary Accessions:
    • B2RWP6
    • B2Y8J9
    • Q9UK89
    • S5XAM4

    Protein attributes for SYNPO2 Gene

    Size:
    1093 amino acids
    Molecular mass:
    117514 Da
    Quaternary structure:
    • Interacts with actin.

    Alternative splice isoforms for SYNPO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYNPO2 Gene

Post-translational modifications for SYNPO2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SYNPO2 Gene

Domains & Families for SYNPO2 Gene

Gene Families for SYNPO2 Gene

Protein Domains for SYNPO2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SYNPO2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UMS6

UniProtKB/Swiss-Prot:

SYNP2_HUMAN :
  • Contains 1 PDZ (DHR) domain.
  • Belongs to the synaptopodin family.
Domain:
  • Contains 1 PDZ (DHR) domain.
Family:
  • Belongs to the synaptopodin family.
genes like me logo Genes that share domains with SYNPO2: view

Function for SYNPO2 Gene

Molecular function for SYNPO2 Gene

UniProtKB/Swiss-Prot Function:
Has an actin-binding and actin-bundling activity.
UniProtKB/Swiss-Prot Induction:
Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD).

Gene Ontology (GO) - Molecular Function for SYNPO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA --
GO:0005515 protein binding IPI 21643011
GO:0051371 muscle alpha-actinin binding ISS --
GO:0071889 14-3-3 protein binding ISS --
genes like me logo Genes that share ontologies with SYNPO2: view
genes like me logo Genes that share phenotypes with SYNPO2: view

Animal Models for SYNPO2 Gene

MGI Knock Outs for SYNPO2:

Animal Model Products

CRISPR Products

miRNA for SYNPO2 Gene

miRTarBase miRNAs that target SYNPO2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SYNPO2 Gene

Localization for SYNPO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNPO2 Gene

Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm in a differentiation-dependent and stress-induced fashion. Localizes to the Z-disk in mature striated muscle. The nuclear export is XPO1-dependent (By similarity). Localized in a fiber-like pattern. partly overlapping with filamentous actin. {ECO:0000250, ECO:0000269 PubMed:18371299}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYNPO2 Gene COMPARTMENTS Subcellular localization image for SYNPO2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for SYNPO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005925 focal adhesion IDA 21423176
GO:0015629 actin cytoskeleton IDA --
GO:0030018 Z disc ISS --
genes like me logo Genes that share ontologies with SYNPO2: view

Pathways & Interactions for SYNPO2 Gene

SuperPathways for SYNPO2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SYNPO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032233 positive regulation of actin filament bundle assembly IBA --
genes like me logo Genes that share ontologies with SYNPO2: view

No data available for Pathways by source and SIGNOR curated interactions for SYNPO2 Gene

Drugs & Compounds for SYNPO2 Gene

No Compound Related Data Available

Transcripts for SYNPO2 Gene

Unigene Clusters for SYNPO2 Gene

Synaptopodin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SYNPO2 Gene

No ASD Table

Relevant External Links for SYNPO2 Gene

GeneLoc Exon Structure for
SYNPO2
ECgene alternative splicing isoforms for
SYNPO2

Expression for SYNPO2 Gene

mRNA expression in normal human tissues for SYNPO2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SYNPO2 Gene

This gene is overexpressed in Muscle - Skeletal (x12.5), Esophagus - Muscularis (x5.9), Colon - Sigmoid (x4.3), and Artery - Tibial (x4.2).

Protein differential expression in normal tissues from HIPED for SYNPO2 Gene

This gene is overexpressed in Colon muscle (12.1), Prostate (10.8), Rectum (7.7), Urinary Bladder (7.3), Colon (6.6), and Seminal vesicle (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SYNPO2 Gene



Protein tissue co-expression partners for SYNPO2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SYNPO2 Gene:

SYNPO2

SOURCE GeneReport for Unigene cluster for SYNPO2 Gene:

Hs.655519

mRNA Expression by UniProt/SwissProt for SYNPO2 Gene:

Q9UMS6-SYNP2_HUMAN
Tissue specificity: Skeletal muscle specific.
genes like me logo Genes that share expression patterns with SYNPO2: view

Primer Products

Orthologs for SYNPO2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SYNPO2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SYNPO2 34
  • 86.54 (n)
  • 85.75 (a)
SYNPO2 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYNPO2 34
  • 82.33 (n)
  • 80.98 (a)
SYNPO2 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Synpo2 34
  • 82.83 (n)
  • 80.34 (a)
Synpo2 16
Synpo2 35
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SYNPO2 34
  • 99.58 (n)
  • 99.21 (a)
SYNPO2 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Synpo2 34
  • 81.76 (n)
  • 78.19 (a)
oppossum
(Monodelphis domestica)
Mammalia SYNPO2 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYNPO2 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYNPO2 34
  • 66.37 (n)
  • 60.29 (a)
SYNPO2 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYNPO2 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia synpo2 34
  • 59.48 (n)
  • 50.91 (a)
zebrafish
(Danio rerio)
Actinopterygii SYNPO2 (1 of 2) 35
  • 32 (a)
OneToMany
SYNPO2 (2 of 2) 35
  • 41 (a)
OneToMany
Species where no ortholog for SYNPO2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SYNPO2 Gene

ENSEMBL:
Gene Tree for SYNPO2 (if available)
TreeFam:
Gene Tree for SYNPO2 (if available)

Paralogs for SYNPO2 Gene

Paralogs for SYNPO2 Gene

(4) SIMAP similar genes for SYNPO2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SYNPO2: view

Variants for SYNPO2 Gene

Sequence variations from dbSNP and Humsavar for SYNPO2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs7698598 - 119,030,492(+) GTGGG(A/G)CATCT intron-variant, reference, missense
VAR_057256 -
VAR_057257 -
VAR_057258 -
rs10103 -- 119,035,530(+) TGTCA(C/T)TCTAG intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SYNPO2 Gene

Variant ID Type Subtype PubMed ID
esv1280152 CNV insertion 17803354
esv2728222 CNV deletion 23290073
esv2728223 CNV deletion 23290073
esv2728224 CNV deletion 23290073
esv2728225 CNV deletion 23290073
esv2728226 CNV deletion 23290073
esv2728227 CNV deletion 23290073
esv2728229 CNV deletion 23290073
esv3357426 CNV insertion 20981092
esv3395902 CNV insertion 20981092
esv3569671 CNV loss 25503493
esv3601957 CNV gain 21293372
esv3601958 CNV gain 21293372
esv3601959 CNV gain 21293372
esv3894016 CNV gain 25118596
esv992928 CNV deletion 20482838
nsv289598 CNV deletion 16902084
nsv522652 CNV loss 19592680
nsv819746 CNV gain 19587683

Variation tolerance for SYNPO2 Gene

Residual Variation Intolerance Score: 8.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.15; 96.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SYNPO2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYNPO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYNPO2 Gene

Disorders for SYNPO2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SYNPO2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
duchenne muscular dystrophy
  • muscular dystrophy, duchenne type
myopathy, myofibrillar, 2
  • myofibrillar myopathy 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SYNPO2

Genetic Association Database (GAD)
SYNPO2
Human Genome Epidemiology (HuGE) Navigator
SYNPO2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYNPO2
genes like me logo Genes that share disorders with SYNPO2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SYNPO2 Gene

Publications for SYNPO2 Gene

  1. Interaction between importin 13 and myopodin suggests a nuclear import pathway for myopodin. (PMID: 17828378) Liang J. … Tao T. (Mol. Cell. Biochem. 2008) 2 3 22 65
  2. Multiple isoforms of the tumor suppressor myopodin are simultaneously transcribed in cancer cells. (PMID: 18371299) De Ganck A. … Gettemans J. (Biochem. Biophys. Res. Commun. 2008) 3 4 22 65
  3. Differentiation and stress-dependent nuclear-cytoplasmic redistribution of myopodin, a novel actin bundling protein. (PMID: 11673475) Weins A. … Mundel P. (J. Cell Biol. 2001) 2 3 4 65
  4. Myopodin isoforms alter the chemokinetic response of PC3 cells in response to different migration stimuli via differential effects on Rho-ROCK signaling pathways. (PMID: 22915763) Kai F. … Duncan R. (Carcinogenesis 2012) 3 4 65
  5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 46 65

Products for SYNPO2 Gene

Sources for SYNPO2 Gene

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