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
  • Synaptojanin-2-Binding Protein 3 4
  • OMP25 3 4
  • SYNJ2BP 5
  • ARIP2 3
  • Arip2 2

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 Brucellosis and Colorectal Cancer, Hereditary Nonpolyposis, Type 7. 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 Summary 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 , Rfam classification and piRNA Summary for SYNJ2BP Gene

Genomics for SYNJ2BP Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH14J070416 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.5 490 2.4 REST IKZF1 KDM1A GABPA PRDM1 ZNF143 POLR2A NR2C1 IRF2 IKZF2 COX16 SYNJ2BP SYNJ2BP-COX16 lnc-SYNJ2BP-1 ADAM21P1 SLC8A3 MED6 lnc-SYNJ2BP-2
GH14J070366 Promoter 0.3 EPDnew 600.2 +50.1 50096 0.1 lnc-ADAM21-2 SYNJ2BP lnc-ADAM21-4 piR-43104-015 lnc-SYNJ2BP-2 COX16 lnc-SYNJ2BP-1 SYNJ2BP-COX16 SLC8A3
GH14J070473 Enhancer 0.7 Ensembl 11.6 -55.1 -55111 0.8 TCF12 IKZF2 ARID3A DPF2 RELB RUNX3 BCL11A ARNT ELF1 IKZF1 SYNJ2BP COX16 RNU2-51P MED6 piR-47086-116 ADAM20P1 lnc-ADAM20-2 ADAM21 ENSG00000257759 ADAM20
GH14J070652 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.6 -244.2 -244151 17.5 CEBPG SP1 CREB1 TEAD4 BACH1 FOXA1 STAT3 ZNF143 RELA ZIC2 SRSF5 TTC9 MED6 SYNJ2BP piR-57133-157 LINC01269 MAP3K9
GH14J070474 Enhancer 0.5 Ensembl 11.6 -56.0 -56011 0.2 PKNOX1 ARID3A BCL11A BATF SPI1 ETV6 CREM SYNJ2BP COX16 RNU2-51P piR-47086-116 ADAM20P1 lnc-ADAM20-2 ADAM21 ENSG00000257759 ADAM20
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SYNJ2BP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYNJ2BP

Top Transcription factor binding sites by QIAGEN in the SYNJ2BP gene promoter:
  • En-1
  • FOXO1
  • FOXO1a
  • IRF-2
  • p53
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3

Genomic Locations for SYNJ2BP Gene

Genomic Locations for SYNJ2BP Gene
chr14:70,366,499-70,417,090
(GRCh38/hg38)
Size:
50,592 bases
Orientation:
Minus strand
chr14:70,833,213-70,883,807
(GRCh37/hg19)
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

Post-translational modifications for SYNJ2BP Gene

  • Ubiquitination at Lys64
  • 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

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

Protein Domains for SYNJ2BP Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
ProtoNet:

Suggested Antigen Peptide Sequences for SYNJ2BP Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial outer membrane protein 25 (SYJ2B_HUMAN)
genes like me logo Genes that share domains with SYNJ2BP: view

No data available for Graphical View of Domain Structure and 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
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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
plasma membrane 4
cytosol 3
extracellular 2
peroxisome 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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:0008328 colocalizes_with ionotropic glutamate receptor complex IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SYNJ2BP: view

Pathways & Interactions for SYNJ2BP Gene

PathCards logo

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:0007268 chemical synaptic transmission IBA 21873635
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

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNJ2BP

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

No ASD Table

Relevant External Links for SYNJ2BP Gene

GeneLoc Exon Structure for
SYNJ2BP

Expression for SYNJ2BP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SYNJ2BP Gene



Protein tissue co-expression partners for SYNJ2BP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYNJ2BP

SOURCE GeneReport for Unigene cluster for SYNJ2BP Gene:

Hs.443661

Evidence on tissue expression from TISSUES for SYNJ2BP Gene

  • Nervous system(2.9)
  • Kidney(2.6)
  • Heart(2.2)
  • Spleen(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with SYNJ2BP: view

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 30 31
  • 99.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SYNJ2BP 30 31
  • 93.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SYNJ2BP 30 31
  • 93.1 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Synj2bp 30 17 31
  • 89.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Synj2bp 30
  • 88.28 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SYNJ2BP 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SYNJ2BP 30 31
  • 69.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SYNJ2BP 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia synj2bp 30
  • 62.8 (n)
Zebrafish
(Danio rerio)
Actinopterygii synj2bp 30 31
  • 56.34 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSENDO-3 31
  • 38 (a)
OneToOne
Species where no ortholog for SYNJ2BP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SYNJ2BP: view image

Paralogs for SYNJ2BP Gene

Paralogs for SYNJ2BP Gene

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

  • SYJ2B_HUMAN
genes like me logo Genes that share paralogs with SYNJ2BP: view

Variants for SYNJ2BP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYNJ2BP Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs4356408 - p.Val9Ile

Additional dbSNP identifiers (rs#s) for SYNJ2BP Gene

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

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

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

(6) MalaCards diseases for SYNJ2BP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
brucellosis
  • bang's disease
colorectal cancer, hereditary nonpolyposis, type 7
  • hnpcc7
retinitis pigmentosa 39
  • rp39
trench fever
  • his-werner disease
bacillary angiomatosis
  • angiomatosis, bacillary
- 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
Open Targets Platform
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
  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 41
  3. Identification and characterization of human ARIP2 and its relation to breast cancer. (PMID: 19349195) Li ZD … Li YX (Cytokine 2009) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for SYNJ2BP Gene

  • Biorbyt antibodies for SYNJ2BP

Sources for SYNJ2BP Gene