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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 24077433 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28051077
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 35703085 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 34130600 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 37407249 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 34130600 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 16298037
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25605973
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33641617 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 12699622
★☆☆☆☆
Found in Text Mining only