Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23568
Gene name Gene Name - the full gene name approved by the HGNC.
ARF like GTPase 2 binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARL2BP
Synonyms (NCBI Gene) Gene synonyms aliases
BART, BART1, RP66, RP82
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RP66, RP82
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q13
Summary Summary of gene provided in NCBI Entrez Gene.
ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, o
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs199830550 G>A,C,T Likely-pathogenic, pathogenic Splice donor variant
rs398123053 T>C,G Pathogenic Missense variant, coding sequence variant
rs879255568 G>A,C Pathogenic Splice acceptor variant
rs1597951232 T>G Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020015 hsa-miR-375 Microarray 20215506
MIRT024907 hsa-miR-215-5p Microarray 19074876
MIRT026813 hsa-miR-192-5p Microarray 19074876
MIRT051112 hsa-miR-16-5p CLASH 23622248
MIRT696841 hsa-miR-603 HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IMP 18234692
GO:0005515 Function Protein binding IPI 11847227, 18234692, 19368893, 21988832, 25416956, 25502805, 26455799, 27107012, 27173435, 29997244, 31515488, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005758 Component Mitochondrial intermembrane space IBA 21873635
GO:0005758 Component Mitochondrial intermembrane space IDA 11809823
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615407 17146 ENSG00000102931
Protein
UniProt ID Q9Y2Y0
Protein name ADP-ribosylation factor-like protein 2-binding protein (ARF-like 2-binding protein) (ARL2-binding protein) (Binder of ARF2 protein 1)
Protein function Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2.
PDB 2K9A , 3DOE , 3DOF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11527 ARL2_Bind_BART 20 134 The ARF-like 2 binding protein BART Family
Tissue specificity TISSUE SPECIFICITY: Expressed in retina pigment epithelial cells (at protein level). Widely expressed. {ECO:0000269|PubMed:10488091, ECO:0000269|PubMed:23849777}.
Sequence
Sequence length 163
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Hearing loss Conductive hearing loss, Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Retinitis Pigmentosa retinitis pigmentosa with or without situs inversus, retinitis pigmentosa GenCC
Associations from Text Mining
Disease Name Relationship Type References
Epstein Barr Virus Infections Associate 21628990, 28515295, 28705173
Hodgkin Disease Associate 11222720
Lymphoma T Cell Peripheral Associate 36851637
Nasopharyngeal Carcinoma Associate 17911266, 20862214, 27147748, 28515295
Nasopharyngeal Neoplasms Associate 37495108
Neoplasm Metastasis Inhibit 21665939
Pancreatic Neoplasms Inhibit 21665939, 22745590
Retinal Degeneration Associate 30210231
Retinal Dystrophies Associate 40384762
Retinitis Pigmentosa Associate 30210231