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Aliases for JMY Gene

Aliases for JMY Gene

  • Junction Mediating And Regulatory Protein, P53 Cofactor 2 3 5
  • WAS Protein Homology Region 2 Domain Containing 1-Like 3 3
  • Junction-Mediating And -Regulatory Protein 3
  • WHDC1L3 3
  • WHAMM2 3

External Ids for JMY Gene

Previous GeneCards Identifiers for JMY Gene

  • GC05U990090
  • GC05P078612
  • GC05P078657
  • GC05P078609
  • GC05P073740
  • GC05P078531

Summaries for JMY Gene

GeneCards Summary for JMY Gene

JMY (Junction Mediating And Regulatory Protein, P53 Cofactor) is a Protein Coding gene. Diseases associated with JMY include Usher Syndrome, Type 1B. Among its related pathways are Gene Expression and Regulation of TP53 Activity. GO annotations related to this gene include actin binding and transcription coactivator activity. An important paralog of this gene is WHAMM.

UniProtKB/Swiss-Prot for JMY Gene

  • Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions. In nucleus, acts as a cofactor that increases p53/TP53 response via its interaction with p300/EP300. Increases p53/TP53-dependent transcription and apoptosis, suggesting an important role in p53/TP53 stress response such as DNA damage. In cytoplasm, acts as a nucleation-promoting factor for both branched and unbranched actin filaments. Activates the Arp2/3 complex to induce branched actin filament networks. Also catalyzes actin polymerization in the absence of Arp2/3, creating unbranched filaments. Contributes to cell motility by controlling actin dynamics. May promote the rapid formation of a branched actin network by first nucleating new mother filaments and then activating Arp2/3 to branch off these filaments. The p53/TP53-cofactor and actin activator activities are regulated via its subcellular location (By similarity).

Additional gene information for JMY Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JMY Gene

Genomics for JMY Gene

Regulatory Elements for JMY Gene

Enhancers for JMY 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
GH05H078979 1.4 Ensembl ENCODE 25.8 -253.3 -253251 7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 JMY ARSB BHMT GC05P078984 LHFPL2
GH05H078293 1.4 FANTOM5 ENCODE 18.6 -941.4 -941426 2 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 JMY RPS3AP20 RPL7P23 AP3B1 GC05M078176
GH05H078573 1.4 Ensembl ENCODE dbSUPER 15.4 -661.9 -661856 2 HDGF PKNOX1 RAD21 THRB RARA SCRT2 ATF7 RUNX3 CREM IKZF2 JMY SCAMP1 GC05M078588 PIR51536
GH05H080124 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +889.9 889930 3 HDAC1 HDGF PKNOX1 TBL1XR1 BMI1 BATF ZNF143 ZNF207 FOS ATF7 ZFYVE16 MTX3 JMY SERINC5 FAM151B ENSG00000251675 GC05P080097
GH05H078675 1.5 FANTOM5 Ensembl ENCODE 10.8 -558.7 -558707 4 ATF1 ARNT FEZF1 ZNF766 GATA2 ELK1 FOS ATF7 RUNX3 REST PAPD4 RPS3AP20 JMY HMGB1P21 ENSG00000254170
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JMY on UCSC Golden Path with GeneCards custom track

Promoters for JMY Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000183060 1098 4001 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZHX2 JUNB REST

Genomic Location for JMY Gene

Chromosome:
5
Start:
79,236,102 bp from pter
End:
79,327,215 bp from pter
Size:
91,114 bases
Orientation:
Plus strand

Genomic View for JMY Gene

Genes around JMY on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for JMY Gene

Proteins for JMY Gene

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

    Protein Symbol:
    Q8N9B5-JMY_HUMAN
    Recommended name:
    Junction-mediating and -regulatory protein
    Protein Accession:
    Q8N9B5
    Secondary Accessions:
    • A1L4P5
    • B5MDS2
    • B5MDT0

    Protein attributes for JMY Gene

    Size:
    988 amino acids
    Molecular mass:
    111445 Da
    Quaternary structure:
    • Interacts with p300/EP300, the complex being recruited to activated p53/TP53. Interacts with TTC5 (By similarity).
    SequenceCaution:
    • Sequence=AAI30625.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04495.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW95834.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for JMY Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JMY Gene

Post-translational modifications for JMY Gene

  • Ubiquitinated by MDM2, leading to its subsequent degradation by the proteasome. In case of DNA damage, the interaction with MDM2 is altered, preventing degradation and allowing interaction with p300/EP300 and its function in p53/TP53 stress response (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JMY Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for JMY Gene

Domains & Families for JMY Gene

Gene Families for JMY Gene

Protein Domains for JMY Gene

Suggested Antigen Peptide Sequences for JMY Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N9B5

UniProtKB/Swiss-Prot:

JMY_HUMAN :
  • Belongs to the JMY family.
Family:
  • Belongs to the JMY family.
genes like me logo Genes that share domains with JMY: view

Function for JMY Gene

Molecular function for JMY Gene

UniProtKB/Swiss-Prot Function:
Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions. In nucleus, acts as a cofactor that increases p53/TP53 response via its interaction with p300/EP300. Increases p53/TP53-dependent transcription and apoptosis, suggesting an important role in p53/TP53 stress response such as DNA damage. In cytoplasm, acts as a nucleation-promoting factor for both branched and unbranched actin filaments. Activates the Arp2/3 complex to induce branched actin filament networks. Also catalyzes actin polymerization in the absence of Arp2/3, creating unbranched filaments. Contributes to cell motility by controlling actin dynamics. May promote the rapid formation of a branched actin network by first nucleating new mother filaments and then activating Arp2/3 to branch off these filaments. The p53/TP53-cofactor and actin activator activities are regulated via its subcellular location (By similarity).
UniProtKB/Swiss-Prot Induction:
By E2F.

Phenotypes From GWAS Catalog for JMY Gene

Gene Ontology (GO) - Molecular Function for JMY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity ISS --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 10518217
GO:0071933 Arp2/3 complex binding IBA --
genes like me logo Genes that share ontologies with JMY: view
genes like me logo Genes that share phenotypes with JMY: view

Animal Model Products

CRISPR Products

miRNA for JMY Gene

miRTarBase miRNAs that target JMY

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for JMY
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for JMY Gene

Subcellular locations from UniProtKB/Swiss-Prot for JMY Gene

Nucleus. Cytoplasm, cytoskeleton. Note=Localizes to the nucleus in most cell types. Accumulates in nucleus under DNA damage conditions, increasing p53/TP53 transcription response and reducing its influence on cell motility (By similarity). In primary neutrophils, it colocalizes with actin filaments at the leading edge and is excluded from the nucleus. Localization correlates with motility, because it moves from the nucleus to the cytoplasmic compartment when cells are differentiated from nonmotile cells into highly motile neutrophil-like cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JMY gene
Compartment Confidence
nucleus 5
cytoskeleton 4
plasma membrane 2
cytosol 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for JMY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IBA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA --
GO:0005856 cytoskeleton IEA --
GO:0031252 cell leading edge IDA 19287377
genes like me logo Genes that share ontologies with JMY: view

Pathways & Interactions for JMY Gene

genes like me logo Genes that share pathways with JMY: view

Gene Ontology (GO) - Biological Process for JMY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter ISS --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007050 cell cycle arrest ISS,IBA --
GO:0034314 Arp2/3 complex-mediated actin nucleation ISS,IBA --
genes like me logo Genes that share ontologies with JMY: view

No data available for SIGNOR curated interactions for JMY Gene

Drugs & Compounds for JMY Gene

No Compound Related Data Available

Transcripts for JMY Gene

Unigene Clusters for JMY Gene

Junction mediating and regulatory protein, p53 cofactor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for JMY
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for JMY Gene

GeneLoc Exon Structure for
JMY
ECgene alternative splicing isoforms for
JMY

Expression for JMY Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for JMY Gene

Protein differential expression in normal tissues from HIPED for JMY Gene

This gene is overexpressed in Plasma (45.8) and Peripheral blood mononuclear cells (8.2).

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



NURSA nuclear receptor signaling pathways regulating expression of JMY Gene:

JMY

SOURCE GeneReport for Unigene cluster for JMY Gene:

Hs.482605

Evidence on tissue expression from TISSUES for JMY Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with JMY: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for JMY Gene

Orthologs for JMY Gene

This gene was present in the common ancestor of chordates.

Orthologs for JMY Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JMY 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia JMY 33 34
  • 89.61 (n)
cow
(Bos Taurus)
Mammalia JMY 33 34
  • 87.74 (n)
mouse
(Mus musculus)
Mammalia Jmy 33 16 34
  • 85.59 (n)
oppossum
(Monodelphis domestica)
Mammalia JMY 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JMY 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves JMY 33 34
  • 77.26 (n)
lizard
(Anolis carolinensis)
Reptilia JMY 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jmy 33
  • 72.02 (n)
zebrafish
(Danio rerio)
Actinopterygii jmy 33 34
  • 64.2 (n)
Species where no ortholog for JMY 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)
  • rat (Rattus norvegicus)
  • 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 JMY Gene

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

Paralogs for JMY Gene

Paralogs for JMY Gene

(2) SIMAP similar genes for JMY Gene using alignment to 1 proteins:

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

Variants for JMY Gene

Sequence variations from dbSNP and Humsavar for JMY Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000016266 -- 79,247,138(+) AATTT(A/C)AATGT intron-variant
rs1000142913 -- 79,296,422(+) TAATA(A/G)GGCTA intron-variant
rs1000154019 -- 79,262,896(+) ACAGT(G/T)GTATT intron-variant
rs1000203913 -- 79,311,094(+) TAAAT(C/T)AGTAG intron-variant
rs1000251495 -- 79,289,559(+) TATCA(C/T)TTCTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv1481046 CNV deletion 17803354
esv2762527 CNV gain 21179565
esv3605528 CNV loss 21293372
esv6669 CNV gain 19470904
nsv1019620 CNV gain 25217958
nsv4893 CNV insertion 18451855
nsv964900 CNV duplication 23825009

Variation tolerance for JMY Gene

Residual Variation Intolerance Score: 45.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.38; 90.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JMY Gene

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

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

Disorders for JMY Gene

MalaCards: The human disease database

(1) MalaCards diseases for JMY Gene - From: DISEASES

Disorder Aliases PubMed IDs
usher syndrome, type 1b
  • usher syndrome type 1
- elite association - COSMIC cancer census association via MalaCards
Search JMY in MalaCards View complete list of genes associated with diseases

Relevant External Links for JMY

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

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

Publications for JMY Gene

  1. Evolution of the eukaryotic ARP2/3 activators of the WASP family: WASP, WAVE, WASH, and WHAMM, and the proposed new family members WAWH and WAML. (PMID: 22316129) Kollmar M … Enge S (BMC research notes 2012) 2 3 60
  2. p53-cofactor JMY is a multifunctional actin nucleation factor. (PMID: 19287377) Zuchero JB … Mullins RD (Nature cell biology 2009) 3 4 60
  3. Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients. (PMID: 18398821) Nordgard SH … Kristensen VN (Genes, chromosomes & cancer 2008) 3 45 60
  4. Novel link between E2F and p53: proapoptotic cofactors of p53 are transcriptionally upregulated by E2F. (PMID: 15706352) Hershko T … Ginsberg D (Cell death and differentiation 2005) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for JMY Gene

Sources for JMY Gene

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