Human Gene SYNJ2BP (ENST00000256366.6_7) from GENCODE V47lift37
  Description: synaptojanin 2 binding protein (from RefSeq NM_018373.3)
Gencode Transcript: ENST00000256366.6_7
Gencode Gene: ENSG00000213463.5_10
Transcript (Including UTRs)
   Position: hg19 chr14:70,833,216-70,883,807 Size: 50,592 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr14:70,839,708-70,883,680 Size: 43,973 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:70,833,216-70,883,807)mRNA (may differ from genome)Protein (145 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYJ2B_HUMAN
DESCRIPTION: RecName: Full=Synaptojanin-2-binding protein; AltName: Full=Mitochondrial outer membrane protein 25;
SUBUNIT: Binds (via the PDZ domain) to isoform 2A of SYNJ2 (via the unique motif in the C-terminus) (By similarity). Interacts with MAPK12 (By similarity).
SUBCELLULAR LOCATION: Mitochondrion outer membrane (By similarity).
SIMILARITY: Contains 1 PDZ (DHR) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SYNJ2BP
Diseases sorted by gene-association score: trench fever (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.88 RPKM in Testis
Total median expression: 246.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.80127-0.274 Picture PostScript Text
3' UTR -1951.586492-0.301 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001478 - PDZ

Pfam Domains:
PF00595 - PDZ domain
PF13180 - PDZ domain
PF17820 - PDZ domain

SCOP Domains:
50156 - PDZ domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2ENO - NMR MuPIT 2JIK - X-ray MuPIT 2JIN - X-ray


ModBase Predicted Comparative 3D Structure on P57105
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding

Biological Process:
GO:0001937 negative regulation of endothelial cell proliferation
GO:0006605 protein targeting
GO:0007266 Rho protein signal transduction
GO:0008593 regulation of Notch signaling pathway
GO:0010596 negative regulation of endothelial cell migration
GO:0016525 negative regulation of angiogenesis
GO:0030100 regulation of endocytosis
GO:0048312 intracellular distribution of mitochondria
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:1903671 negative regulation of sprouting angiogenesis

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031307 integral component of mitochondrial outer membrane


-  Descriptions from all associated GenBank mRNAs
  JD342454 - Sequence 323478 from Patent EP1572962.
JD560555 - Sequence 541579 from Patent EP1572962.
JD560554 - Sequence 541578 from Patent EP1572962.
LF329876 - JP 2014500723-A/137379: Polycomb-Associated Non-Coding RNAs.
AK123967 - Homo sapiens cDNA FLJ41973 fis, clone SKNMC2004651.
LF329877 - JP 2014500723-A/137380: Polycomb-Associated Non-Coding RNAs.
LF329878 - JP 2014500723-A/137381: Polycomb-Associated Non-Coding RNAs.
LF329879 - JP 2014500723-A/137382: Polycomb-Associated Non-Coding RNAs.
AY534623 - Homo sapiens activin receptor interacting protein 5 mRNA, complete cds.
JD517751 - Sequence 498775 from Patent EP1572962.
JD366571 - Sequence 347595 from Patent EP1572962.
JD286788 - Sequence 267812 from Patent EP1572962.
JD517750 - Sequence 498774 from Patent EP1572962.
JD105970 - Sequence 86994 from Patent EP1572962.
JD340740 - Sequence 321764 from Patent EP1572962.
JD050829 - Sequence 31853 from Patent EP1572962.
JD354037 - Sequence 335061 from Patent EP1572962.
JD461306 - Sequence 442330 from Patent EP1572962.
JD322898 - Sequence 303922 from Patent EP1572962.
JD307017 - Sequence 288041 from Patent EP1572962.
JD037083 - Sequence 18107 from Patent EP1572962.
JD170152 - Sequence 151176 from Patent EP1572962.
JD307018 - Sequence 288042 from Patent EP1572962.
JD322899 - Sequence 303923 from Patent EP1572962.
JD502457 - Sequence 483481 from Patent EP1572962.
JD307016 - Sequence 288040 from Patent EP1572962.
JD488586 - Sequence 469610 from Patent EP1572962.
JD112102 - Sequence 93126 from Patent EP1572962.
JD208705 - Sequence 189729 from Patent EP1572962.
JD158913 - Sequence 139937 from Patent EP1572962.
JD482646 - Sequence 463670 from Patent EP1572962.
AK002133 - Homo sapiens cDNA FLJ11271 fis, clone PLACE1009319, moderately similar to Rattus norvegicus outer membrane protein mRNA.
JD117081 - Sequence 98105 from Patent EP1572962.
JD372904 - Sequence 353928 from Patent EP1572962.
JD180560 - Sequence 161584 from Patent EP1572962.
JD184038 - Sequence 165062 from Patent EP1572962.
JD277138 - Sequence 258162 from Patent EP1572962.
JD498204 - Sequence 479228 from Patent EP1572962.
JD486506 - Sequence 467530 from Patent EP1572962.
JD378208 - Sequence 359232 from Patent EP1572962.
JD249741 - Sequence 230765 from Patent EP1572962.
JD203164 - Sequence 184188 from Patent EP1572962.
LF329880 - JP 2014500723-A/137383: Polycomb-Associated Non-Coding RNAs.
AK311719 - Homo sapiens cDNA, FLJ18761.
JD182048 - Sequence 163072 from Patent EP1572962.
LF329881 - JP 2014500723-A/137384: Polycomb-Associated Non-Coding RNAs.
LF210494 - JP 2014500723-A/17997: Polycomb-Associated Non-Coding RNAs.
BC007704 - Homo sapiens synaptojanin 2 binding protein, mRNA (cDNA clone MGC:10277 IMAGE:3952366), complete cds.
JD379345 - Sequence 360369 from Patent EP1572962.
LF329882 - JP 2014500723-A/137385: Polycomb-Associated Non-Coding RNAs.
JD147275 - Sequence 128299 from Patent EP1572962.
JD413155 - Sequence 394179 from Patent EP1572962.
JD181939 - Sequence 162963 from Patent EP1572962.
JD044084 - Sequence 25108 from Patent EP1572962.
KJ899128 - Synthetic construct Homo sapiens clone ccsbBroadEn_08522 SYNJ2BP gene, encodes complete protein.
AB527912 - Synthetic construct DNA, clone: pF1KB0931, Homo sapiens SYNJ2BP gene for synaptojanin 2 binding protein, without stop codon, in Flexi system.
LF329883 - JP 2014500723-A/137386: Polycomb-Associated Non-Coding RNAs.
LF338275 - JP 2014500723-A/145778: Polycomb-Associated Non-Coding RNAs.
LF338274 - JP 2014500723-A/145777: Polycomb-Associated Non-Coding RNAs.
LF329894 - JP 2014500723-A/137397: Polycomb-Associated Non-Coding RNAs.
JD323279 - Sequence 304303 from Patent EP1572962.
JD099986 - Sequence 81010 from Patent EP1572962.
JD323413 - Sequence 304437 from Patent EP1572962.
MA565453 - JP 2018138019-A/137379: Polycomb-Associated Non-Coding RNAs.
MA565454 - JP 2018138019-A/137380: Polycomb-Associated Non-Coding RNAs.
MA565455 - JP 2018138019-A/137381: Polycomb-Associated Non-Coding RNAs.
MA565456 - JP 2018138019-A/137382: Polycomb-Associated Non-Coding RNAs.
MA565457 - JP 2018138019-A/137383: Polycomb-Associated Non-Coding RNAs.
MA565458 - JP 2018138019-A/137384: Polycomb-Associated Non-Coding RNAs.
MA565459 - JP 2018138019-A/137385: Polycomb-Associated Non-Coding RNAs.
MA565460 - JP 2018138019-A/137386: Polycomb-Associated Non-Coding RNAs.
MA565471 - JP 2018138019-A/137397: Polycomb-Associated Non-Coding RNAs.
MA446071 - JP 2018138019-A/17997: Polycomb-Associated Non-Coding RNAs.
MA573852 - JP 2018138019-A/145778: Polycomb-Associated Non-Coding RNAs.
MA573851 - JP 2018138019-A/145777: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000256366.1, ENST00000256366.2, ENST00000256366.3, ENST00000256366.4, ENST00000256366.5, NM_018373, OMP25 , P57105, Q49SH3, Q96IA4, SYJ2B_HUMAN, uc317fuf.1, uc317fuf.2
UCSC ID: ENST00000256366.6_7
RefSeq Accession: NM_018373.3
Protein: P57105 (aka SYJ2B_HUMAN or SJ2B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.