Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8871
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptojanin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYNJ2
Synonyms (NCBI Gene) Gene synonyms aliases
INPP5H
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0004439 Function Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA 21873635
GO:0004439 Function Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity TAS
GO:0005515 Function Protein binding IPI 15090612, 17474147, 20936779, 31980649
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609410 11504 ENSG00000078269
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
16298037
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
16298037
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
16298037
Unknown
Disease term Disease name Evidence References Source
Endometriosis Endometriosis 28881265 ClinVar, GWAS
Cholelithiasis Cholelithiasis GWAS
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
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