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Synj2 synaptojanin 2 [ Mus musculus (house mouse) ]

Gene ID: 20975, updated on 11-Apr-2024

Summary

Official Symbol
Synj2provided by MGI
Official Full Name
synaptojanin 2provided by MGI
Primary source
MGI:MGI:1201671
See related
Ensembl:ENSMUSG00000023805 AllianceGenome:MGI:1201671
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
SJ2; mKIAA0348
Summary
Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Predicted to be involved in several processes, including dephosphorylation; intracellular distribution of mitochondria; and synaptic vesicle endocytosis. Predicted to be located in axon terminus; cytoplasmic microtubule; and ruffle membrane. Predicted to be extrinsic component of mitochondrial outer membrane. Predicted to be active in perinuclear region of cytoplasm and presynapse. Is expressed in several structures, including alimentary system; genitourinary system; liver; nose; and spleen. Orthologous to human SYNJ2 (synaptojanin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 5.1), cortex adult (RPKM 4.6) and 27 other tissues See more
Orthologs
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Genomic context

See Synj2 in Genome Data Viewer
Location:
17 A1; 17 3.59 cM
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (5991555..6106041)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (5941280..6055766)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene sorting nexin 9 Neighboring gene STARR-positive B cell enhancer mm9_chr17:5934164-5934465 Neighboring gene STARR-positive B cell enhancer mm9_chr17:5934996-5935297 Neighboring gene STARR-seq mESC enhancer starr_41704 Neighboring gene predicted gene, 46599 Neighboring gene STARR-seq mESC enhancer starr_41705 Neighboring gene mRNA turnover 4 pseudogene Neighboring gene STARR-seq mESC enhancer starr_41707 Neighboring gene predicted gene, 52312 Neighboring gene predicted gene, 35525 Neighboring gene STARR-seq mESC enhancer starr_41712 Neighboring gene predicted gene, 46591 Neighboring gene serine active site containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E9051 Neighboring gene STARR-positive B cell enhancer ABC_E8652 Neighboring gene general transcription factor IIH, polypeptide 5 Neighboring gene TUB like protein 4 Neighboring gene fibrillarin, pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

Related articles in PubMed

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (2)  1 citation
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
NOT enables PDZ domain binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables SH3 domain binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables SH3 domain binding ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity ISO
Inferred from Sequence Orthology
more info
 
enables inositol-1,4,5-trisphosphate 5-phosphatase activity ISO
Inferred from Sequence Orthology
more info
 
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol monophosphate phosphatase activity ISO
Inferred from Sequence Orthology
more info
 
enables phosphatidylinositol-3-phosphate phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in inositol phosphate catabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in phosphatidylinositol dephosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in synaptic vesicle endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in axon terminus ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic microtubule ISO
Inferred from Sequence Orthology
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in presynapse IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in presynapse ISO
Inferred from Sequence Orthology
more info
 
located_in ruffle membrane ISO
Inferred from Sequence Orthology
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
synaptojanin-2
Names
synaptic inositol-1,4,5-trisphosphate 5-phosphatase 2
NP_001106822.1
NP_001106823.1
NP_001106824.1
NP_001277627.1
NP_001344594.1
NP_001344596.1
NP_035653.2
XP_006523265.1
XP_006523266.1
XP_006523267.1
XP_006523268.1
XP_006523269.1
XP_006523271.1
XP_017172861.1

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)

  1. NM_001113351.1NP_001106822.1  synaptojanin-2 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame compared to variant 1. This variant encodes isoform d which is shorter than isoform a.
    Source sequence(s)
    AF041862, AK163512, BC060214
    UniProtKB/Swiss-Prot
    Q9D2G5
    Related
    ENSMUST00000115788.8
    Conserved Domains (3) summary
    pfam02383
    Location:3257
    Syja_N; SacI homology domain
    pfam08952
    Location:787923
    DUF1866; Domain of unknown function (DUF1866)
    cl00490
    Location:445776
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  2. NM_001113352.2NP_001106823.1  synaptojanin-2 isoform b

    See identical proteins and their annotated locations for NP_001106823.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1 that results in a shorter protein (isoform b).
    Source sequence(s)
    AF041857, AK142919, BC060214
    Consensus CDS
    CCDS49932.1
    UniProtKB/Swiss-Prot
    O35404, O88399, O88400, O88401, O88402, O88403, O88404, Q9D2G5
    Related
    ENSMUSP00000079164.7, ENSMUST00000080283.13
    Conserved Domains (4) summary
    pfam02383
    Location:61342
    Syja_N; SacI homology domain
    pfam08952
    Location:8721008
    DUF1866; Domain of unknown function (DUF1866)
    pfam15677
    Location:12451360
    CEND1; Cell cycle exit and neuronal differentiation protein 1
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  3. NM_001113353.2NP_001106824.1  synaptojanin-2 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AF041857, AF041859, AK142919, AK148053, BC058749
    Consensus CDS
    CCDS49931.1
    UniProtKB/TrEMBL
    F8WHD8
    Related
    ENSMUSP00000111457.3, ENSMUST00000115791.10
    Conserved Domains (4) summary
    pfam02383
    Location:61342
    Syja_N; SacI homology domain
    pfam08952
    Location:8721008
    DUF1866; Domain of unknown function (DUF1866)
    pfam15677
    Location:12901405
    CEND1; Cell cycle exit and neuronal differentiation protein 1
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  4. NM_001290698.1NP_001277627.1  synaptojanin-2 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has multiple differences compared to variant 1 and initiates translation at an alternate start codon. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK019694, AK142919, AK161467
    Consensus CDS
    CCDS70757.1
    UniProtKB/TrEMBL
    E9Q4P5, Q3TTB3
    Related
    ENSMUSP00000111451.2, ENSMUST00000115785.8
    Conserved Domains (3) summary
    pfam08952
    Location:556692
    DUF1866; Domain of unknown function (DUF1866)
    pfam15677
    Location:9291044
    CEND1; Cell cycle exit and neuronal differentiation protein 1
    cl00490
    Location:214545
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  5. NM_001357665.1NP_001344594.1  synaptojanin-2 isoform f

    Status: VALIDATED

    Source sequence(s)
    AC154650, BU701096
    UniProtKB/TrEMBL
    F7BI35
    Conserved Domains (3) summary
    pfam08952
    Location:497633
    DUF1866; Domain of unknown function (DUF1866)
    cl00490
    Location:155486
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
    cl27434
    Location:2110
    Syja_N; SacI homology domain
  6. NM_001357667.1NP_001344596.1  synaptojanin-2 isoform g

    Status: VALIDATED

    Source sequence(s)
    AC154650, AK142919, BC060214, BU610521, BU701096, CJ113008
    UniProtKB/TrEMBL
    Q3TTB3
    Conserved Domains (3) summary
    pfam08952
    Location:787923
    DUF1866; Domain of unknown function (DUF1866)
    cl00490
    Location:445776
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
    cl27434
    Location:2400
    Syja_N; SacI homology domain
  7. NM_011523.2NP_035653.2  synaptojanin-2 isoform c

    See identical proteins and their annotated locations for NP_035653.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame compared to variant 1. This variant encodes isoform c which is shorter than isoform a.
    Source sequence(s)
    AF041859, AF041862, AK163512, BC058749
    Consensus CDS
    CCDS28365.1
    UniProtKB/Swiss-Prot
    Q9D2G5
    Related
    ENSMUSP00000060382.8, ENSMUST00000061091.14
    Conserved Domains (3) summary
    pfam02383
    Location:3257
    Syja_N; SacI homology domain
    pfam08952
    Location:787923
    DUF1866; Domain of unknown function (DUF1866)
    cl00490
    Location:445776
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

RNA

  1. NR_151772.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC154650, AF041857, AK142919, BU610521, BU701096
    Related
    ENSMUST00000134767.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    5991555..6106041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006523203.2XP_006523266.1  synaptojanin-2 isoform X2

    Conserved Domains (3) summary
    COG5329
    Location:30485
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam08952
    Location:8721008
    DUF1866; Domain of unknown function (DUF1866)
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  2. XM_006523204.2XP_006523267.1  synaptojanin-2 isoform X3

    Conserved Domains (3) summary
    COG5329
    Location:30485
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam08952
    Location:8721008
    DUF1866; Domain of unknown function (DUF1866)
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  3. XM_006523205.4XP_006523268.1  synaptojanin-2 isoform X4

    UniProtKB/Swiss-Prot
    Q9D2G5
    Conserved Domains (3) summary
    COG5329
    Location:30485
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam08952
    Location:8721008
    DUF1866; Domain of unknown function (DUF1866)
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  4. XM_006523208.3XP_006523271.1  synaptojanin-2 isoform X6

    Conserved Domains (3) summary
    COG5329
    Location:30485
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam08952
    Location:8721008
    DUF1866; Domain of unknown function (DUF1866)
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  5. XM_006523206.3XP_006523269.1  synaptojanin-2 isoform X5

    UniProtKB/TrEMBL
    Q3TTB3
    Conserved Domains (4) summary
    COG5329
    Location:7245
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam08952
    Location:632768
    DUF1866; Domain of unknown function (DUF1866)
    pfam15677
    Location:10501165
    CEND1; Cell cycle exit and neuronal differentiation protein 1
    cl00490
    Location:290621
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  6. XM_006523202.5XP_006523265.1  synaptojanin-2 isoform X1

    UniProtKB/TrEMBL
    D3YZB2, Q3TTB3
    Related
    ENSMUSP00000111456.2, ENSMUST00000115790.8
    Conserved Domains (4) summary
    COG5329
    Location:2400
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam08952
    Location:787923
    DUF1866; Domain of unknown function (DUF1866)
    pfam15677
    Location:12051320
    CEND1; Cell cycle exit and neuronal differentiation protein 1
    cl00490
    Location:445776
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  7. XM_017317372.2XP_017172861.1  synaptojanin-2 isoform X7

    UniProtKB/TrEMBL
    Q3TTB3
    Conserved Domains (4) summary
    COG5329
    Location:2110
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam08952
    Location:497633
    DUF1866; Domain of unknown function (DUF1866)
    pfam15677
    Location:9151030
    CEND1; Cell cycle exit and neuronal differentiation protein 1
    cl00490
    Location:155486
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

RNA

  1. XR_385128.2 RNA Sequence

  2. XR_004939486.1 RNA Sequence