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SYNJ2 synaptojanin 2 [ Homo sapiens (human) ]

Gene ID: 8871, updated on 12-May-2016
Official Symbol
SYNJ2provided by HGNC
Official Full Name
synaptojanin 2provided by HGNC
Primary source
HGNC:HGNC:11504
See related
Ensembl:ENSG00000078269 HPRD:10259; MIM:609410; Vega:OTTHUMG00000015904
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
INPP5H
Summary
The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Orthologs
Location:
6q25.3
Exon count:
33
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (157981856..158099176)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (158402888..158520208)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene zinc finger DHHC-type containing 14 Neighboring gene uncharacterized LOC105378077 Neighboring gene sorting nexin 9 Neighboring gene uncharacterized LOC105378078 Neighboring gene SYNJ2 intronic transcript 1 Neighboring gene uncharacterized LOC105378079 Neighboring gene serine active site containing 1 Neighboring gene general transcription factor IIH subunit 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide search for gene-gene interactions in colorectal cancer.
NHGRI GWA Catalog
The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0348, MGC44422

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IEA
Inferred from Electronic Annotation
more info
 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol phosphate 4-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3-phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
synaptojanin-2
Names
inositol phosphate 5'-phosphatase 2
inositol polyphosphate-5-phosphatase H
phosphoinositide 5-phosphatase
synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2
synaptic inositol-1,4,5-trisphosphate 5-phosphatase 2
NP_001171559.1
NP_003889.1

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.

Genomic

  1. NG_029907.1 RefSeqGene

    Range
    5001..122321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178088.1NP_001171559.1  synaptojanin-2 isoform 2

    See identical proteins and their annotated locations for NP_001171559.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF086449, AL139330, BX648749, DA327619
    UniProtKB/Swiss-Prot
    O15056
    Conserved Domains (3) summary
    cd12720
    Location:652729
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    pfam02383
    Location:2111
    Syja_N; SacI homology domain
    cl00490
    Location:293624
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  2. NM_003898.3NP_003889.1  synaptojanin-2 isoform 1

    See identical proteins and their annotated locations for NP_003889.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). This variant (1) is also known as synaptojanin 2B or 2B2 (SJ2B2).
    Source sequence(s)
    AF086449, AF318616, AK294480, AL139330
    Consensus CDS
    CCDS5254.1
    UniProtKB/Swiss-Prot
    O15056
    UniProtKB/TrEMBL
    B4DG94
    Related
    ENSP00000347792, OTTHUMP00000017494, ENST00000355585, OTTHUMT00000042858
    Conserved Domains (3) summary
    cd12720
    Location:889966
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    pfam02383
    Location:60348
    Syja_N; SacI homology domain
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    157981856..158099176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536224.1XP_011534526.1  

    Conserved Domains (3) summary
    cd12720
    Location:889966
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    pfam02383
    Location:60348
    Syja_N; SacI homology domain
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  2. XM_006715592.2XP_006715655.1  

    See identical proteins and their annotated locations for XP_006715655.1

    UniProtKB/Swiss-Prot
    O15056
    Conserved Domains (3) summary
    cd12720
    Location:889966
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    pfam02383
    Location:60348
    Syja_N; SacI homology domain
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  3. XM_011536230.1XP_011534532.1  

    Conserved Domains (3) summary
    cd12720
    Location:889966
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    pfam02383
    Location:60348
    Syja_N; SacI homology domain
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  4. XM_011536227.1XP_011534529.1  

    Conserved Domains (3) summary
    cd12720
    Location:889966
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    pfam02383
    Location:60348
    Syja_N; SacI homology domain
    cl00490
    Location:530861
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  5. XM_011536229.1XP_011534531.1  

    Conserved Domains (2) summary
    pfam02383
    Location:60348
    Syja_N; SacI homology domain
    cl00490
    Location:530821
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  6. XM_011536225.1XP_011534527.1  

    See identical proteins and their annotated locations for XP_011534527.1

    UniProtKB/Swiss-Prot
    O15056
    Conserved Domains (3) summary
    cd12720
    Location:652729
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    pfam02383
    Location:2111
    Syja_N; SacI homology domain
    cl00490
    Location:293624
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  7. XM_005267199.1XP_005267256.1  

    See identical proteins and their annotated locations for XP_005267256.1

    Conserved Domains (2) summary
    cd12720
    Location:506583
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    cl00490
    Location:147478
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  8. XM_005267198.3XP_005267255.1  

    See identical proteins and their annotated locations for XP_005267255.1

    Conserved Domains (2) summary
    cd12720
    Location:558635
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    cl00490
    Location:199530
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  9. XM_011536228.1XP_011534530.1  

    See identical proteins and their annotated locations for XP_011534530.1

    Conserved Domains (2) summary
    cd12720
    Location:506583
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    cl00490
    Location:147478
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  10. XM_011536226.1XP_011534528.1  

    See identical proteins and their annotated locations for XP_011534528.1

    Conserved Domains (2) summary
    cd12720
    Location:558635
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    cl00490
    Location:199530
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  11. XM_005267200.1XP_005267257.1  

    Related
    ENSP00000356089, ENST00000367122
    Conserved Domains (2) summary
    cd12720
    Location:302379
    RRM_SYNJ2; RNA recognition motif in synaptojanin-2 and similar proteins
    cl00490
    Location:1274
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

RNA

  1. XR_245556.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    158665133..158782434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)