Format

Send to:

Choose Destination

SYNJ2BP synaptojanin 2 binding protein [ Homo sapiens (human) ]

Gene ID: 55333, updated on 22-Aug-2020

Summary

Official Symbol
SYNJ2BPprovided by HGNC
Official Full Name
synaptojanin 2 binding proteinprovided by HGNC
Primary source
HGNC:HGNC:18955
See related
Ensembl:ENSG00000213463 MIM:609411
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARIP2; OMP25
Expression
Ubiquitous expression in kidney (RPKM 23.3), duodenum (RPKM 20.4) and 24 other tissues See more
Orthologs

Genomic context

See SYNJ2BP in Genome Data Viewer
Location:
14q24.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (70366499..70417090, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (70833213..70883807, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene SYNJ2BP-COX16 readthrough Neighboring gene cytochrome c oxidase assembly factor COX16 Neighboring gene RNA, U2 small nuclear 51, pseudogene Neighboring gene ADAM metallopeptidase domain 21 Neighboring gene ADAM metallopeptidase domain 20 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough SYNJ2BP-COX16

Readthrough gene: SYNJ2BP-COX16, Included gene: COX16

Homology

Clone Names

  • FLJ11271, FLJ41973

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryo development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment or maintenance of epithelial cell apical/basal polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular distribution of mitochondria IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of sprouting angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting IEA
Inferred from Electronic Annotation
more info
 
receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor localization to synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of endocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with ionotropic glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
synaptojanin-2-binding protein
Names
activin receptor interacting protein 5
mitochondrial outer membrane protein 25

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_018373.3NP_060843.2  synaptojanin-2-binding protein

    See identical proteins and their annotated locations for NP_060843.2

    Status: VALIDATED

    Source sequence(s)
    AL356804, BC007704, BP195583, BQ775922
    Consensus CDS
    CCDS9803.1
    UniProtKB/Swiss-Prot
    P57105
    UniProtKB/TrEMBL
    A0A024R670
    Related
    ENSP00000256366.4, ENST00000256366.6
    Conserved Domains (1) summary
    cd00992
    Location:1397
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    70366499..70417090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center