Gene Gene information from NCBI Gene database.
Entrez ID 23568
Gene name ARF like GTPase 2 binding protein
Gene symbol ARL2BP
Synonyms (NCBI Gene)
BARTBART1RP66RP82
Chromosome 16
Chromosome location 16q13
Summary 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.
4
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.
694
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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, 33961781
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615407 17146 ENSG00000102931
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ARL2BP-related disorder Pathogenic rs199830550 RCV003392337
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa Pathogenic rs199830550, rs879255568 RCV001257803
RCV001257802
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangiocarcinoma Pathogenic rs199830550 RCV005900919
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy Pathogenic rs754087233, rs199830550 RCV003889737
RCV000504888
★★★★☆
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
CILIOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHY ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
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
Atrophoderma maculatum Anetoderma HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 28259048
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 30827132
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 31425546
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Conductive hearing loss Hearing Loss HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of penis Congenital Hypoplasia Of Penis HPO_DG
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 30827132
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 30827132
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 30827132
★☆☆☆☆
Found in Text Mining only