Gene Gene information from NCBI Gene database.
Entrez ID 55333
Gene name Synaptojanin 2 binding protein
Gene symbol SYNJ2BP
Synonyms (NCBI Gene)
ARIP2OMP25
Chromosome 14
Chromosome location 14q24.2
miRNA miRNA information provided by mirtarbase database.
1163
miRTarBase ID miRNA Experiments Reference
MIRT022946 hsa-miR-124-3p Microarray 18668037
MIRT048664 hsa-miR-99a-5p CLASH 23622248
MIRT045280 hsa-miR-186-5p CLASH 23622248
MIRT044570 hsa-miR-320a CLASH 23622248
MIRT715053 hsa-miR-3646 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0001937 Process Negative regulation of endothelial cell proliferation IMP 24025447
GO:0005515 Function Protein binding IPI 24025447, 25416956, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 18845145
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609411 18955 ENSG00000213463
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P57105
Protein name Synaptojanin-2-binding protein (Mitochondrial outer membrane protein 25)
Protein function Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction.
PDB 2ENO , 2JIK , 2JIN , 7P73 , 7P74 , 7PC9 , 7R2M , 7R2T , 8AEL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 13 97 PDZ domain Domain
Sequence
MNGRVDYLVTEEEINLTRGPSGLGFNIVGGTDQQYVSNDSGIYVSRIKENGAAALDGRLQ
EGDKILSVNGQDLKNLLHQDAVDLFRNAGYAVSLRVQ
HRLQVQNGPIGHRGEGDPSGIPI
FMVLVPVFALTMVAAWAFMRYRQQL
Sequence length 145
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Amyotrophic Lateral Sclerosis 4 Juvenile Stimulate 35907632
★☆☆☆☆
Found in Text Mining only
Astrocytoma Associate 31170943
★☆☆☆☆
Found in Text Mining only
Bulbo Spinal Atrophy X Linked Stimulate 35907632
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Associate 31815134
★☆☆☆☆
Found in Text Mining only
Ganglioglioma Associate 31170943
★☆☆☆☆
Found in Text Mining only
Infections Associate 11447156
★☆☆☆☆
Found in Text Mining only
Macrophage Activation Syndrome Associate 11447156
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Associate 35907632
★☆☆☆☆
Found in Text Mining only
Motor Neuron Disease Associate 35907632
★☆☆☆☆
Found in Text Mining only
Neoplasms Neuroepithelial Associate 31170943
★☆☆☆☆
Found in Text Mining only