Synj2bp synaptojanin 2 binding protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Synj2bpprovided by MGI
Official Full Name: synaptojanin 2 binding proteinprovided by MGI
Primary source: MGI:MGI:1344347
See related: Ensembl:ENSMUSG00000090935 AllianceGenome:MGI:1344347
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ARIP2; OMP25; ActRIP4; D12Wsu118e
Summary: Enables type II activin receptor binding activity. Involved in positive regulation of protein localization to cell surface; positive regulation of receptor internalization; and regulation of activin receptor signaling pathway. Acts upstream of or within Rho protein signal transduction; protein targeting; and regulation of endocytosis. Located in cell surface. Is expressed in several structures, including blood vessel; extraembryonic component; genitourinary system; neural tube; and retina. Orthologous to human SYNJ2BP (synaptojanin 2 binding protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 3.6), bladder adult (RPKM 3.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 D1; 12 37.73 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (81538968..81579685, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (81492194..81532911, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of Synj2bp in mouse liver regulates the extent of wrappER-mitochondria contact to maintain hepatic lipid homeostasis.
Title: Expression of Synj2bp in mouse liver regulates the extent of wrappER-mitochondria contact to maintain hepatic lipid homeostasis.
The findings suggest that ARIP2 is widely distributed in various tissues and may be a negative regulator of activin action in pituitary cells.
Title: Expression and localization of activin receptor-interacting protein 2 in mouse tissues.
ARIP2 expression can be influenced by various factors. ARIP2 may participate in the negative feedback regulation of signal transduction in the late stage by affecting the expression of activin type 2 receptor.
Title: Regulation of activin receptor-interacting protein 2 expression in mouse hepatoma Hepa1-6 cells and its relationship with collagen type IV.
Overexpression of ARIP2 enhances endocytosis of ActRIIAs; data indicate that ARIP2 is a novel factor regulating cell surface ActRIIA expression and activin function.
Title: Novel factors in regulation of activin signaling.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125845 (e-PCR)
- UniSTS:162588

RH125875 (e-PCR)
- UniSTS:141861

px-22d5 (e-PCR)
- UniSTS:257413

px-56c9 (e-PCR)
- UniSTS:257932

RH124886 (e-PCR)
- UniSTS:161708

AA409442 (e-PCR)
- UniSTS:160225

Readthrough S2bpcox16

Readthrough gene: S2bpcox16, Included gene: Cox16

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables type II activin receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Rho protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cytoplasm organization	ISO Inferred from Sequence Orthology more info	PubMed
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in intracellular distribution of mitochondria	IEA Inferred from Electronic Annotation more info
involved_in intracellular distribution of mitochondria	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of endothelial cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of sprouting angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of receptor internalization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein targeting	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of Notch signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of endocytosis	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in regulation of receptor internalization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: synaptojanin-2-binding protein

Names: activin receptor interacting protein 2; activin receptor-interacting protein 4; mitochondrial outer membrane protein 25; 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_001309814.1 → NP_001296743.1 synaptojanin-2-binding protein isoform 2

See identical proteins and their annotated locations for NP_001296743.1

Status: VALIDATED

Description

Transcript Variant: This variant (2, also known as ARIP2c) lacks an exon and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AY071903, AY566156, BY745220

Consensus CDS

CCDS83979.1

UniProtKB/Swiss-Prot

Q9D6K5

Related

ENSMUSP00000130691.2, ENSMUST00000169158.2

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) ...
NM_025292.7 → NP_079568.1 synaptojanin-2-binding protein isoform 1

See identical proteins and their annotated locations for NP_079568.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AC132391, AC154908, AI851233, AK163362, BY745220

Consensus CDS

CCDS26021.1

UniProtKB/Swiss-Prot

Q2TTN6, Q6YNE6, Q78HT9, Q8K4F3, Q9D6K5, Q9D8G4

Related

ENSMUSP00000129224.2, ENSMUST00000163402.8

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) ...

RNA

NR_132136.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC132391, AC154908, AI851233, AK030379, BY745220
NR_132142.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks two alternate exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AY071903, AY566156, BY745220