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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
  • Synaptojanin-2-Binding Protein 3
  • 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. Gene Ontology (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

Additional gene information for SYNJ2BP Gene

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

Genomics for SYNJ2BP Gene

GeneHancer (GH) Regulatory Elements for SYNJ2BP Gene

Promoters and enhancers for SYNJ2BP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I070416 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.2 243 1.7 ARID4B SIN3A DMAP1 IRF4 YY1 ETS1 SLC30A9 ZNF143 ATF7 RUNX3 SYNJ2BP SYNJ2BP-COX16 ADAM21P1 SLC8A3 GC14P070399 LOC105370555
GH14I070652 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.6 -244.2 -244151 17.5 HDGF PKNOX1 FOXA2 SMAD1 NEUROD1 SIN3A ZBTB7B IRF4 ETS1 ZNF207 SRSF5 TTC9 MED6 SYNJ2BP GC14P070671 GC14P070643 GC14M070669
GH14I070394 Enhancer 0.5 ENCODE 12.4 +22.3 22251 0.2 JUND GATA3 FOXA2 DPF2 FOXA1 TCF7L2 SYNJ2BP RNU2-51P COX16 GC14P070399 GC14M070313 SYNJ2BP-COX16
GH14I070452 Promoter 0.5 EPDnew 11.8 -35.1 -35065 0.1 ADAM21 SYNJ2BP GC14P070437 LOC105370555
GH14I070378 Enhancer 0.5 ENCODE 5.2 +36.1 36115 5.5 MAFF GATA3 ZNF316 MAFG FOXP2 MAFK EMSY ADAM21P1 COX16 SLC8A3 SYNJ2BP GC14M070313 GC14P070399 SYNJ2BP-COX16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SYNJ2BP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SYNJ2BP gene promoter:

Genomic Locations for SYNJ2BP Gene

Genomic Locations for SYNJ2BP Gene
chr14:70,366,496-70,417,090
(GRCh38/hg38)
Size:
50,595 bases
Orientation:
Minus strand
chr14:70,833,213-70,883,807
(GRCh37/hg19)

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

Post-translational modifications for SYNJ2BP Gene

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

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

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

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.

Phenotypes From GWAS Catalog for SYNJ2BP Gene

Gene Ontology (GO) - Molecular Function for SYNJ2BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24025447
GO:0008022 protein C-terminus binding IEA --
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

Inhibitory RNA Products

Clone Products

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
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 SYNJ2BP gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SYNJ2BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 18845145
GO:0005741 mitochondrial outer membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031307 integral component of 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:0006605 protein targeting IEA --
GO:0007266 Rho protein signal transduction IEA --
GO:0008593 regulation of Notch signaling pathway IMP 24025447
GO:0010596 negative regulation of endothelial cell migration 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

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SYNJ2BP Gene



Protein tissue co-expression partners for SYNJ2BP Gene

NURSA nuclear receptor signaling pathways regulating expression of SYNJ2BP Gene:

SYNJ2BP

SOURCE GeneReport for Unigene cluster for SYNJ2BP Gene:

Hs.443661

Evidence on tissue expression from TISSUES for SYNJ2BP Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with SYNJ2BP: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SYNJ2BP 33 34
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia SYNJ2BP 33 34
  • 93.79 (n)
dog
(Canis familiaris)
Mammalia SYNJ2BP 33 34
  • 93.1 (n)
mouse
(Mus musculus)
Mammalia Synj2bp 33 16 34
  • 89.43 (n)
rat
(Rattus norvegicus)
Mammalia Synj2bp 33
  • 88.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SYNJ2BP 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYNJ2BP 33 34
  • 69.83 (n)
lizard
(Anolis carolinensis)
Reptilia SYNJ2BP 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia synj2bp 33
  • 62.8 (n)
zebrafish
(Danio rerio)
Actinopterygii synj2bp 33 34
  • 56.34 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSENDO-3 34
  • 38 (a)
OneToOne
Species where no ortholog for SYNJ2BP 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)
  • 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 Variation AA Info Type
rs1000003707 -- 70,387,388(-) G/C/T intron_variant
rs1000014228 -- 70,404,744(-) G/A intron_variant
rs1000258763 -- 70,400,199(-) A/G intron_variant
rs1000276119 -- 70,380,504(-) A/T intron_variant
rs1000285168 -- 70,392,523(-) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1140303 OTHER inversion 24896259
nsv1125586 CNV tandem duplication 24896259
nsv1116745 CNV tandem duplication 24896259
nsv1116461 OTHER inversion 24896259
esv989380 CNV insertion 20482838
esv1691671 CNV insertion 17803354
esv1345963 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)

Additional Variant Information for SYNJ2BP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYNJ2BP

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

Additional Disease Information for SYNJ2BP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MG … Fischer A (Circulation research 2013) 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Identification and characterization of human ARIP2 and its relation to breast cancer. (PMID: 19349195) Li ZD … Li YX (Cytokine 2009) 3 22 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for SYNJ2BP Gene

Sources for SYNJ2BP Gene

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