Gene Gene information from NCBI Gene database.
Entrez ID 8871
Gene name Synaptojanin 2
Gene symbol SYNJ2
Synonyms (NCBI Gene)
INPP5H
Chromosome 6
Chromosome location 6q25.3
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
miRNA miRNA information provided by mirtarbase database.
479
miRTarBase ID miRNA Experiments Reference
MIRT042886 hsa-miR-324-3p CLASH 23622248
MIRT036063 hsa-miR-1301-3p CLASH 23622248
MIRT631146 hsa-miR-383-3p HITS-CLIP 23824327
MIRT631145 hsa-miR-485-5p HITS-CLIP 23824327
MIRT631144 hsa-miR-6884-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0004438 Function Phosphatidylinositol-3-phosphate phosphatase activity TAS
GO:0004439 Function Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA
GO:0004439 Function Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609410 11504 ENSG00000078269
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15056
Protein name Synaptojanin-2 (EC 3.1.3.36) (Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2)
Protein function Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction pathways. May mediate the inhibitory effect of Rac1 on endocytosis.
PDB 1UFW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02383 Syja_N 61 342 SacI homology domain Family
PF03372 Exo_endo_phos 535 855 Endonuclease/Exonuclease/phosphatase family Domain
PF08952 DUF1866 863 1008 Domain of unknown function (DUF1866) Domain
Sequence
MALSKGLRLLGRLGAEGDCSVLLEARGRDDCLLFEAGTVATLAPEEKEVIKGQYGKLTDA
YGCLGELRLKSGGTSLSFLVLVTGCTSVGRIPDAEIYKITATDFYPLQEEAKEEERLIAL
KKILSSGVFYFSWPNDGSRFDLTVRTQKQGDDSSEWGNSFFWNQLLHVPLRQHQVSCCDW
LLKIICGVVTIRTVYASHKQAKACLVSRVSCERTGTRFHTRGVNDDGHVSNFVETEQMIY
MDDGVSSFVQIRGSVPLFWEQPGLQVGSHHLRLHRGLEANAPAFDRHMVLLKEQYGQQVV
VNLLGSRGGEEVLNRAFKKLLWASCHAGDTPMINFDFHQFAK
GGKLEKLETLLRPQLKLH
WEDFDVFTKGENVSPRFQKGTLRMNCLDCLDRTNTVQSFIALEVLHLQLKTLGLSSKPIV
DRFVESFKAMWSLNGHSLSKVFTGSRALEGKAKVGKLKDGARSMSRTIQSNFFDGVKQEA
IKLLLVGDVYGEEVADKGGMLLDSTALLVTPRILKAMTERQSEFTNFKRIRIAMGTWNVN
GGKQFRSNVLRTAELTDWLLDSPQLSGATDSQDDSSPADIFAVGFEEMVELSAGNIVNAS
TTNKKMWGEQLQKAISRSHRYILLTSAQLVGVCLYIFVRPYHVPFIRDVAIDTVKTGMGG
KAGNKGAVGIRFQFHSTSFCFICSHLTAGQSQVKERNEDYKEITQKLCFPMGRNVFSHDY
VFWCGDFNYRIDLTYEEVFYFVKRQDWKKLLEFDQLQLQKSSGKIFKDFHEGAINFGPTY
KYDVGSAAYDTSDKCRTPAWTDRVLWWRKKHPFDKTAGELNLLDSDLDVDTKVRHTWSPG
ALQYYGRAELQASDH
RPVLAIVEVEVQEVDVGARERVFQEVSSFQGPLDATVVVNLQSPT
LEEKNEFPEDLRTELMQTLGSYGTIVLVRINQGQMLVTFADSHSALSVLDVDGMKVKGRA
VKIRPKTKDWLKGLREEIIRKRDSMAPVSPTANSCLLEENFDFTSLDY
ESEGDILEDDED
YLVDEFNQPGVSDSELGGDDLSDVPGPTALAPPSKSPALTKKKQHPTYKDDADLVELKRE
LEAVGEFRHRSPSRSLSVPNRPRPPQPPQRPPPPTGLMVKKSASDASISSGTHGQYSILQ
TARLLPGAPQQPPKARTGISKPYNVKQIKTTNAQEAEAAIRCLLEARGGASEEALSAVAP
RDLEASSEPEPTPGAAKPETPQAPPLLPRRPPPRVPAIKKPTLRRTGKPLSPEEQFEQQT
VHFTIGPPETSVEAPPVVTAPRVPPVPKPRTFQPGKAAERPSHRKPASDEAPPGAGASVP
PPLEAPPLVPKVPPRRKKSAPAAFHLQVLQSNSQLLQGLTYNSSDSPSGHPPAAGTVFPQ
GDFLSTSSATSPDSDGTKAMKPEAAPLLGDYQDPFWNLLHHPKLLNNTWLSKSSDPLDSG
TRSPKRDPIDPVSAGASAAKAELPPDHEHKTLGHWVTISDQEKRTALQVFDPLAKT
Sequence length 1496
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
  Synthesis of PIPs at the plasma membrane
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Meniere disease Uncertain significance rs201993080, rs143362296, rs376191774, rs149724554, rs201236063 RCV004572839
RCV004573530
RCV004573531
RCV004573532
RCV004574889
Uterine corpus endometrial carcinoma Uncertain significance rs370643062 RCV005928920
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 24077433
Anorexia Nervosa Associate 35703085
Ataxia Associate 34130600
Autism Spectrum Disorder Associate 37407249
Brain Diseases Associate 34130600
Carcinoma Hepatocellular Associate 33641617
Carcinoma Squamous Cell Stimulate 35581615
Chediak Higashi Syndrome Associate 34130600
Colorectal Neoplasms Associate 26616230
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 34130600