SYNJ2
Synaptojanin-2
Also known as: INPP5H, SYNJ2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O15056
- Gene
- SYNJ2
- Ensembl
- ENSG00000078269
- Chromosome
- 6
- Canonical length
- 1496 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Microtubules,Cytosol
OverviewNCBI 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-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Canonical amino-acid sequenceUniProt
1496 residues, UniProt reviewed canonical sequence.
>O15056|SYNJ2
1 MALSKGLRLL GRLGAEGDCS VLLEARGRDD CLLFEAGTVA TLAPEEKEVI KGQYGKLTDA
61 YGCLGELRLK SGGTSLSFLV LVTGCTSVGR IPDAEIYKIT ATDFYPLQEE AKEEERLIAL
121 KKILSSGVFY FSWPNDGSRF DLTVRTQKQG DDSSEWGNSF FWNQLLHVPL RQHQVSCCDW
181 LLKIICGVVT IRTVYASHKQ AKACLVSRVS CERTGTRFHT RGVNDDGHVS NFVETEQMIY
241 MDDGVSSFVQ IRGSVPLFWE QPGLQVGSHH LRLHRGLEAN APAFDRHMVL LKEQYGQQVV
301 VNLLGSRGGE EVLNRAFKKL LWASCHAGDT PMINFDFHQF AKGGKLEKLE TLLRPQLKLH
361 WEDFDVFTKG ENVSPRFQKG TLRMNCLDCL DRTNTVQSFI ALEVLHLQLK TLGLSSKPIV
421 DRFVESFKAM WSLNGHSLSK VFTGSRALEG KAKVGKLKDG ARSMSRTIQS NFFDGVKQEA
481 IKLLLVGDVY GEEVADKGGM LLDSTALLVT PRILKAMTER QSEFTNFKRI RIAMGTWNVN
541 GGKQFRSNVL RTAELTDWLL DSPQLSGATD SQDDSSPADI FAVGFEEMVE LSAGNIVNAS
601 TTNKKMWGEQ LQKAISRSHR YILLTSAQLV GVCLYIFVRP YHVPFIRDVA IDTVKTGMGG
661 KAGNKGAVGI RFQFHSTSFC FICSHLTAGQ SQVKERNEDY KEITQKLCFP MGRNVFSHDY
721 VFWCGDFNYR IDLTYEEVFY FVKRQDWKKL LEFDQLQLQK SSGKIFKDFH EGAINFGPTY
781 KYDVGSAAYD TSDKCRTPAW TDRVLWWRKK HPFDKTAGEL NLLDSDLDVD TKVRHTWSPG
841 ALQYYGRAEL QASDHRPVLA IVEVEVQEVD VGARERVFQE VSSFQGPLDA TVVVNLQSPT
901 LEEKNEFPED LRTELMQTLG SYGTIVLVRI NQGQMLVTFA DSHSALSVLD VDGMKVKGRA
961 VKIRPKTKDW LKGLREEIIR KRDSMAPVSP TANSCLLEEN FDFTSLDYES EGDILEDDED
1021 YLVDEFNQPG VSDSELGGDD LSDVPGPTAL APPSKSPALT KKKQHPTYKD DADLVELKRE
1081 LEAVGEFRHR SPSRSLSVPN RPRPPQPPQR PPPPTGLMVK KSASDASISS GTHGQYSILQ
1141 TARLLPGAPQ QPPKARTGIS KPYNVKQIKT TNAQEAEAAI RCLLEARGGA SEEALSAVAP
1201 RDLEASSEPE PTPGAAKPET PQAPPLLPRR PPPRVPAIKK PTLRRTGKPL SPEEQFEQQT
1261 VHFTIGPPET SVEAPPVVTA PRVPPVPKPR TFQPGKAAER PSHRKPASDE APPGAGASVP
1321 PPLEAPPLVP KVPPRRKKSA PAAFHLQVLQ SNSQLLQGLT YNSSDSPSGH PPAAGTVFPQ
1381 GDFLSTSSAT SPDSDGTKAM KPEAAPLLGD YQDPFWNLLH HPKLLNNTWL SKSSDPLDSG
1441 TRSPKRDPID PVSAGASAAK AELPPDHEHK TLGHWVTISD QEKRTALQVF DPLAKTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SYNJ2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 115 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 115 nTPM
- midbrain: 46 nTPM
- hippocampal formation: 27 nTPM
- cerebral cortex: 19 nTPM
- bone marrow: 19 nTPM
- basal ganglia: 18 nTPM
Single-cell type
- oligodendrocytes: 616 nCPM
- endometrial luminal cells: 439 nCPM
- endometrial secretory cells: 360 nCPM
- salivary ionocytes: 237 nCPM
- salivary duct cells: 230 nCPM
- podocytes: 228 nCPM
Immune cell
- neutrophil: 4.2 nTPM
- basophil: 2.8 nTPM
- naive B-cell: 1.9 nTPM
- MAIT T-cell: 1.8 nTPM
- memory CD4 T-cell: 1.3 nTPM
- T-reg: 1.2 nTPM
Brain region
- white matter: 264 nTPM
- medulla oblongata: 239 nTPM
- midbrain: 188 nTPM
- pons: 186 nTPM
- basal ganglia: 175 nTPM
- spinal cord: 156 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SYNJ2.
Disease | ImmuneIEDB
Conditions an epitope on SYNJ2 was assayed in.
- narcolepsy B cell
- multiple sclerosis B cell
- peripheral nervous system disease B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.69
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.72
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- membrane organization
- phosphatidylinositol biosynthetic process
- phosphatidylinositol dephosphorylation
- synaptic vesicle endocytosis
Molecular functions
- inositol-1,4,5-trisphosphate 5-phosphatase activity
- phosphatidylinositol phosphate 4-phosphatase activity
- phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
- phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
- phosphatidylinositol-3-phosphate phosphatase activity
- phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
- RNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Inositol polyphosphate-related phosphatase
- RNA recognition motif domain
- SAC domain
- Nucleotide-binding alpha-beta plait domain superfamily
- Synaptojanin-1/2, RNA recognition motif
- RNA-binding domain superfamily
- Endonuclease/exonuclease/phosphatase superfamily
- Inositol 5-phosphatase
- SacI homology domain
- Domain of unknown function (DUF1866)
- Endonuclease/Exonuclease/phosphatase family 2
- Synaptojanin-2, RNA recognition motif
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SYNJ2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SYNJ2 as an antibody target. Whether an autoantibody or antibody against SYNJ2 could matter depends on whether native SYNJ2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SYNJ2 is annotated at the cell surface, where native SYNJ2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SYNJ2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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