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Aliases for SYNJ2BP Gene

Aliases for SYNJ2BP Gene

  • Synaptojanin 2 Binding Protein 2 3 5
  • Mitochondrial Outer Membrane Protein 25 3 4
  • Activin Receptor Interacting Protein 5 2 3
  • OMP25 3 4
  • ARIP2 3

External Ids for SYNJ2BP Gene

Previous GeneCards Identifiers for SYNJ2BP Gene

  • GC14M068343
  • GC14M064635
  • GC14M068828
  • GC14M069908
  • GC14M070833
  • GC14M051001

Summaries for SYNJ2BP Gene

GeneCards Summary for SYNJ2BP Gene

SYNJ2BP (Synaptojanin 2 Binding Protein) is a Protein Coding gene. Diseases associated with SYNJ2BP include Trench Fever. GO annotations related to this gene include protein C-terminus binding and type II activin receptor binding. An important paralog of this gene is SYNJ2BP-COX16.

UniProtKB/Swiss-Prot for SYNJ2BP Gene

  • Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction.

Gene Wiki entry for SYNJ2BP Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYNJ2BP Gene

Genomics for SYNJ2BP Gene

Regulatory Elements for SYNJ2BP Gene

Enhancers for SYNJ2BP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SYNJ2BP on UCSC Golden Path with GeneCards custom track

Promoters for SYNJ2BP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SYNJ2BP on UCSC Golden Path with GeneCards custom track

Genomic Location for SYNJ2BP Gene

Chromosome:
14
Start:
70,366,496 bp from pter
End:
70,417,090 bp from pter
Size:
50,595 bases
Orientation:
Minus strand

Genomic View for SYNJ2BP Gene

Genes around SYNJ2BP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYNJ2BP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYNJ2BP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNJ2BP Gene

Proteins for SYNJ2BP Gene

  • Protein details for SYNJ2BP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57105-SYJ2B_HUMAN
    Recommended name:
    Synaptojanin-2-binding protein
    Protein Accession:
    P57105
    Secondary Accessions:
    • Q49SH3
    • Q96IA4

    Protein attributes for SYNJ2BP Gene

    Size:
    145 amino acids
    Molecular mass:
    15928 Da
    Quaternary structure:
    • Binds (via the PDZ domain) to isoform 2A of SYNJ2 (via the unique motif in the C-terminus) (By similarity). Interacts (via C-terminus) with RALBP1. Interacts (via PDZ domain) with ACVR2A (via C-terminus) and ACVR2B (via C-terminus). Forms a ternary complex with ACVR2A and RALBP1 (By similarity). Interacts with MAPK12 (By similarity). Interacts with DLL1; enhances DLL1 protein stability, and promotes notch signaling in endothelial cells (PubMed:24025447).

    Three dimensional structures from OCA and Proteopedia for SYNJ2BP Gene

neXtProt entry for SYNJ2BP Gene

Proteomics data for SYNJ2BP Gene at MOPED

Post-translational modifications for SYNJ2BP Gene

  • Ubiquitination at Lys 64
  • Modification sites at PhosphoSitePlus

Other Protein References for SYNJ2BP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SYNJ2BP Gene

Domains & Families for SYNJ2BP Gene

Gene Families for SYNJ2BP Gene

Protein Domains for SYNJ2BP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SYNJ2BP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P57105

UniProtKB/Swiss-Prot:

SYJ2B_HUMAN :
  • Contains 1 PDZ (DHR) domain.
Domain:
  • Contains 1 PDZ (DHR) domain.
genes like me logo Genes that share domains with SYNJ2BP: view

Function for SYNJ2BP Gene

Molecular function for SYNJ2BP Gene

UniProtKB/Swiss-Prot Function:
Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction.

Gene Ontology (GO) - Molecular Function for SYNJ2BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 24025447
genes like me logo Genes that share ontologies with SYNJ2BP: view

Phenotypes for SYNJ2BP Gene

genes like me logo Genes that share phenotypes with SYNJ2BP: view

Animal Model Products

CRISPR Products

miRNA for SYNJ2BP Gene

miRTarBase miRNAs that target SYNJ2BP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SYNJ2BP Gene

Localization for SYNJ2BP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNJ2BP Gene

Mitochondrion outer membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYNJ2BP Gene COMPARTMENTS Subcellular localization image for SYNJ2BP gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SYNJ2BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 18845145
GO:0005741 mitochondrial outer membrane IEA --
genes like me logo Genes that share ontologies with SYNJ2BP: view

Pathways & Interactions for SYNJ2BP Gene

SuperPathways for SYNJ2BP Gene

No Data Available

Gene Ontology (GO) - Biological Process for SYNJ2BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001937 negative regulation of endothelial cell proliferation IMP 24025447
GO:0002092 positive regulation of receptor internalization IEA --
GO:0006605 protein targeting IEA --
GO:0007266 Rho protein signal transduction IEA --
GO:0008593 regulation of Notch signaling pathway IMP 24025447
genes like me logo Genes that share ontologies with SYNJ2BP: view

No data available for Pathways by source and SIGNOR curated interactions for SYNJ2BP Gene

Drugs & Compounds for SYNJ2BP Gene

No Compound Related Data Available

Transcripts for SYNJ2BP Gene

mRNA/cDNA for SYNJ2BP Gene

Alternative Splicing Database (ASD) splice patterns (SP) for SYNJ2BP Gene

No ASD Table

Relevant External Links for SYNJ2BP Gene

GeneLoc Exon Structure for
SYNJ2BP
ECgene alternative splicing isoforms for
SYNJ2BP

Expression for SYNJ2BP Gene

mRNA expression in normal human tissues for SYNJ2BP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SYNJ2BP Gene

This gene is overexpressed in Nasal epithelium (38.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SYNJ2BP Gene



SOURCE GeneReport for Unigene cluster for SYNJ2BP Gene Hs.443661

genes like me logo Genes that share expression patterns with SYNJ2BP: view

Protein tissue co-expression partners for SYNJ2BP Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SYNJ2BP Gene

Orthologs for SYNJ2BP Gene

This gene was present in the common ancestor of chordates.

Orthologs for SYNJ2BP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SYNJ2BP 35
  • 93.79 (n)
  • 95.86 (a)
SYNJ2BP 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYNJ2BP 35
  • 93.1 (n)
  • 93.1 (a)
SYNJ2BP 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Synj2bp 35
  • 89.43 (n)
  • 91.03 (a)
Synj2bp 16
Synj2bp 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SYNJ2BP 35
  • 99.54 (n)
  • 99.31 (a)
SYNJ2BP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Synj2bp 35
  • 88.28 (n)
  • 88.97 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia SYNJ2BP 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYNJ2BP 35
  • 69.83 (n)
  • 67.88 (a)
SYNJ2BP 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYNJ2BP 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia synj2bp 35
  • 62.8 (n)
  • 58.7 (a)
zebrafish
(Danio rerio)
Actinopterygii synj2bp 35
  • 56.34 (n)
  • 54.93 (a)
synj2bp 36
  • 49 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSENDO-3 36
  • 38 (a)
OneToOne
Species with no ortholog for SYNJ2BP:
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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 SYNJ2BP Gene

ENSEMBL:
Gene Tree for SYNJ2BP (if available)
TreeFam:
Gene Tree for SYNJ2BP (if available)

Paralogs for SYNJ2BP Gene

Paralogs for SYNJ2BP Gene

(20) SIMAP similar genes for SYNJ2BP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SYNJ2BP: view

Variants for SYNJ2BP Gene

Sequence variations from dbSNP and Humsavar for SYNJ2BP Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_051394 -

Structural Variations from Database of Genomic Variants (DGV) for SYNJ2BP Gene

Variant ID Type Subtype PubMed ID
nsv902075 CNV Gain 21882294
esv1345963 CNV Insertion 17803354
esv989380 CNV Insertion 20482838
esv1691671 CNV Insertion 17803354

Variation tolerance for SYNJ2BP Gene

Residual Variation Intolerance Score: 67.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.62% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SYNJ2BP Gene

Disorders for SYNJ2BP Gene

MalaCards: The human disease database

(1) MalaCards diseases for SYNJ2BP Gene - From: DISEASES

Disorder Aliases PubMed IDs
trench fever
  • his-werner disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SYNJ2BP

Genetic Association Database (GAD)
SYNJ2BP
Human Genome Epidemiology (HuGE) Navigator
SYNJ2BP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYNJ2BP
genes like me logo Genes that share disorders with SYNJ2BP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SYNJ2BP Gene

Publications for SYNJ2BP Gene

  1. Synaptojanin-2 binding protein stabilizes the Notch ligands DLL1 and DLL4 and inhibits sprouting angiogenesis. (PMID: 24025447) Adam M.G. … Fischer A. (Circ. Res. 2013) 3 4 67
  2. Identification and characterization of human ARIP2 and its relation to breast cancer. (PMID: 19349195) Li Z.D. … Li Y.X. (Cytokine 2009) 3 23
  3. Regulation of endocytosis of activin type II receptors by a novel PDZ protein through Ral/Ral-binding protein 1-dependent pathway. (PMID: 11882656) Matsuzaki T. … Sugino H. (J. Biol. Chem. 2002) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. (PMID: 24954895) Simino J. … Rao D.C. (Am. J. Hum. Genet. 2014) 3

Products for SYNJ2BP Gene

Sources for SYNJ2BP Gene

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