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

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; AllianceGenome:HGNC:18955
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
Summary: Predicted to enable type II activin receptor binding activity. Involved in several processes, including negative regulation of endothelial cell migration; negative regulation of sprouting angiogenesis; and regulation of signal transduction. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney (RPKM 23.3), duodenum (RPKM 20.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (70366499..70417090, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (64572381..64623200, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (70833216..70883807, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SYNJ2BP ameliorates intervertebral disc degeneration by facilitating mitochondria-associated endoplasmic reticulum membrane formation and mitochondrial Zn[2+] homeostasis.
Title: SYNJ2BP ameliorates intervertebral disc degeneration by facilitating mitochondria-associated endoplasmic reticulum membrane formation and mitochondrial Zn(2+) homeostasis.
The PDZ Domain Protein SYNJ2BP Regulates GRK-Dependent Sst2A Phosphorylation and Downstream MAPK Signaling.
Title: The PDZ Domain Protein SYNJ2BP Regulates GRK-Dependent Sst2A Phosphorylation and Downstream MAPK Signaling.
The mitochondrial outer membrane protein SYNJ2BP interacts with the cell adhesion molecule TMIGD1 and can recruit it to mitochondria.
Title: The mitochondrial outer membrane protein SYNJ2BP interacts with the cell adhesion molecule TMIGD1 and can recruit it to mitochondria.
The increased ARIP2 in the LPS-activated macrophages may play an anti-inflammatory role via inhibiting the production of pro-inflammatory cytokines by feedback regulation, which is related to the inhibition of CD14 expression on macrophages.
Title: Expression and anti-inflammatory role of activin receptor-interacting protein 2 in lipopolysaccharide-activated macrophages.
Data found that SYNJ2BP was decreased in hepatocellular carcinoma (HCC) tissues and cell lines and provide evidence that SYNJ2BP may act as a tumor suppressor during HCC development activating DLL4 pathway.
Title: SYNJ2BP inhibits tumor growth and metastasis by activating DLL4 pathway in hepatocellular carcinoma.
Ubiquilins are a family of chaperones for cytosolically exposed transmembrane domains and use ubiquitin to triage clients, like Omp25, for degradation via coordinated intra- and intermolecular interactions.
Title: Ubiquilins Chaperone and Triage Mitochondrial Membrane Proteins for Degradation.
Synaptojanin-2 binding protein stabilizes the Notch ligands DLL1 and DLL4 and inhibits sprouting angiogenesis.
Title: Synaptojanin-2 binding protein stabilizes the Notch ligands DLL1 and DLL4 and inhibits sprouting angiogenesis.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
These results suggest that ARIP2 is a putative growth-promoting factor involved in breast tumorigenesis and tumor development.
Title: Identification and characterization of human ARIP2 and its relation to breast cancer.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32405 (e-PCR)
- UniSTS:116992

SYNJ2BP__5365 (e-PCR)
- UniSTS:463917

G35968 (e-PCR)
- UniSTS:73776

D8S2279 (e-PCR)
- UniSTS:473907

A009C06 (e-PCR)
- UniSTS:9543

D14S682E (e-PCR)
- UniSTS:76648

D10S16 (e-PCR)
- UniSTS:155756

D1S1425 (e-PCR)
- UniSTS:149621

RH93755 (e-PCR)
- UniSTS:86965

D14S841 (e-PCR)
- UniSTS:18151

D14S1315 (e-PCR)
- UniSTS:74739

Readthrough SYNJ2BP-COX16

Readthrough gene: SYNJ2BP-COX16, Included gene: COX16

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting	IEA Inferred from Electronic Annotation more info
involved_in regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of endocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: synaptojanin-2-binding protein

Names: activin receptor interacting protein 5; mitochondrial outer membrane protein 25

NCBI Reference Sequences (RefSeq)

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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)

NM_018373.3 → NP_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, Q49SH3, Q96IA4

Related

ENSP00000256366.4, ENST00000256366.6

Conserved Domains (1) summary

cd00992
Location:13 → 97

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) ...