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 Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis 4 Juvenile Amyotrophic lateral sclerosis Pubtator 35907632 Stimulate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 31170943 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19349195, 29163781
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 31815134 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 27440153
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 19349195, 29163781
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27440153
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 29163781
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 35907632 Associate
★☆☆☆☆
Found in Text Mining only
Motor Neuron Disease Motor neuron disease Pubtator 35907632 Associate
★☆☆☆☆
Found in Text Mining only