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, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of ... See more...

Aliases for ARL2BP Gene

Aliases for ARL2BP Gene

  • ADP Ribosylation Factor Like GTPase 2 Binding Protein 2 3 5
  • ADP-Ribosylation Factor-Like Protein 2-Binding Protein 3 4
  • Retinitis Pigmentosa 66 (Autosomal Recessive) 2 3
  • ARF-Like 2-Binding Protein 3 4
  • Binder Of ARF2 Protein 1 3 4
  • ARL2-Binding Protein 3 4
  • Binder Of Arl2 2 3
  • BART1 3 4
  • BART 3 4
  • ADP-Ribosylation Factor Like 2 Binding Protein 3
  • ADP-Ribosylation Factor-Like 2 Binding Protein 2
  • Arf-Like 2 Binding Protein BART1 3
  • Binder Of Arl Two 3
  • RP66 3

External Ids for ARL2BP Gene

Previous HGNC Symbols for ARL2BP Gene

  • RP66

Previous GeneCards Identifiers for ARL2BP Gene

  • GC00U913737
  • GC16P057055
  • GC16P055836
  • GC16P057279
  • GC16P043148

Summaries for ARL2BP Gene

Entrez Gene Summary for ARL2BP 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, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARL2BP Gene

ARL2BP (ADP Ribosylation Factor Like GTPase 2 Binding Protein) is a Protein Coding gene. Diseases associated with ARL2BP include Retinitis Pigmentosa 82 With Or Without Situs Inversus and Retinitis Pigmentosa. Among its related pathways are Integration of energy metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and GTPase regulator activity.

UniProtKB/Swiss-Prot Summary for ARL2BP Gene

  • 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.

Additional gene information for ARL2BP Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARL2BP Gene

Genomics for ARL2BP Gene

GeneHancer (GH) Regulatory Elements for ARL2BP Gene

Promoters and enhancers for ARL2BP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARL2BP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARL2BP

Top Transcription factor binding sites by QIAGEN in the ARL2BP gene promoter:
  • AML1a
  • HFH-1
  • ITF-2
  • MIF-1
  • MyoD
  • Pbx1a
  • POU3F2
  • Tal-1beta
  • YY1

Genomic Locations for ARL2BP Gene

Genomic Locations for ARL2BP Gene
chr16:57,245,126-57,253,635
(GRCh38/hg38)
Size:
8,510 bases
Orientation:
Plus strand
chr16:57,279,010-57,287,545
(GRCh37/hg19)
Size:
8,536 bases
Orientation:
Plus strand

Genomic View for ARL2BP Gene

Genes around ARL2BP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARL2BP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARL2BP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARL2BP Gene

Proteins for ARL2BP Gene

  • Protein details for ARL2BP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2Y0-AR2BP_HUMAN
    Recommended name:
    ADP-ribosylation factor-like protein 2-binding protein
    Protein Accession:
    Q9Y2Y0
    Secondary Accessions:
    • B3KQJ5
    • Q504R0

    Protein attributes for ARL2BP Gene

    Size:
    163 amino acids
    Molecular mass:
    18822 Da
    Quaternary structure:
    • Found in a complex with ARL2BP, ARL2 and SLC25A6. Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with STAT2, STAT3 and STAT4. Interacts with GTP-bound ARL2 and ARL3; the complex ARL2-ARL2BP as well as ARL2BP alone, binds to ANT1. Interaction with ARL2 may be required for targeting to cilia basal body. Interacts with STAT3; interaction is enhanced with ARL2.

    Three dimensional structures from OCA and Proteopedia for ARL2BP Gene

    Alternative splice isoforms for ARL2BP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARL2BP Gene

Post-translational modifications for ARL2BP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARL2BP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ARL2BP Gene

Domains & Families for ARL2BP Gene

Gene Families for ARL2BP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ARL2BP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARL2BP Gene

GenScript: Design optimal peptide antigens:
  • Binder of ARF2 protein 1 (AR2BP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2Y0

UniProtKB/Swiss-Prot:

AR2BP_HUMAN :
  • Belongs to the ARL2BP family.
Family:
  • Belongs to the ARL2BP family.
genes like me logo Genes that share domains with ARL2BP: view

Function for ARL2BP Gene

Molecular function for ARL2BP Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ARL2BP Gene

Gene Ontology (GO) - Molecular Function for ARL2BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IMP 18234692
GO:0005515 protein binding IPI 11847227
GO:0030695 GTPase regulator activity TAS 10488091
genes like me logo Genes that share ontologies with ARL2BP: view
genes like me logo Genes that share phenotypes with ARL2BP: view

Human Phenotype Ontology for ARL2BP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ARL2BP Gene

Localization for ARL2BP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARL2BP Gene

Cytoplasm. Mitochondrion intermembrane space. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, cilium basal body. Note=The complex formed with ARL2BP, ARL2 and SLC25A4 is expressed in mitochondria (By similarity). Detected in the midbody matrix. Not detected in the Golgi, nucleus and on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules. In retina photoreceptor cells, localized in the distal connecting cilia, basal body, ciliary-associated centriole, and ciliary rootlet. Interaction with ARL2 may be required for cilia basal body localization. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARL2BP gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 5
golgi apparatus 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for ARL2BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005758 mitochondrial intermembrane space IBA,IDA 11809823
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ARL2BP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARL2BP Gene

Pathways & Interactions for ARL2BP Gene

PathCards logo

SuperPathways for ARL2BP Gene

genes like me logo Genes that share pathways with ARL2BP: view

Pathways by source for ARL2BP Gene

Gene Ontology (GO) - Biological Process for ARL2BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 10488091
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IMP,IBA 18234692
GO:0050790 regulation of catalytic activity IEA --
GO:0050796 regulation of insulin secretion TAS --
GO:0051457 maintenance of protein location in nucleus IBA,IMP 18234692
genes like me logo Genes that share ontologies with ARL2BP: view

No data available for SIGNOR curated interactions for ARL2BP Gene

Drugs & Compounds for ARL2BP Gene

(1) Drugs for ARL2BP Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ARL2BP: view

Transcripts for ARL2BP Gene

mRNA/cDNA for ARL2BP Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARL2BP Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: -
SP2: - -
SP3: - -
SP4: - - - -
SP5: - - - - -

Relevant External Links for ARL2BP Gene

GeneLoc Exon Structure for
ARL2BP

Expression for ARL2BP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARL2BP Gene

Protein differential expression in normal tissues from HIPED for ARL2BP Gene

This gene is overexpressed in Bone (11.3), Tlymphocyte (9.4), and Ovary (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARL2BP Gene



Protein tissue co-expression partners for ARL2BP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARL2BP

SOURCE GeneReport for Unigene cluster for ARL2BP Gene:

Hs.719024

mRNA Expression by UniProt/SwissProt for ARL2BP Gene:

Q9Y2Y0-AR2BP_HUMAN
Tissue specificity: Expressed in retina pigment epithelial cells (at protein level). Widely expressed.

Evidence on tissue expression from TISSUES for ARL2BP Gene

  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARL2BP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ARL2BP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ARL2BP Gene

Orthologs for ARL2BP Gene

This gene was present in the common ancestor of animals.

Orthologs for ARL2BP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARL2BP 31 30
  • 99.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARL2BP 31 30
  • 91.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARL2BP 31 30
  • 91.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arl2bp 17 31 30
  • 88.14 (n)
oppossum
(Monodelphis domestica)
Mammalia ARL2BP 31
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Arl2bp 30
  • 85.75 (n)
chicken
(Gallus gallus)
Aves ARL2BP 31 30
  • 77.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARL2BP 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arl2bp 30
  • 69.85 (n)
zebrafish
(Danio rerio)
Actinopterygii arl2bp 31 30
  • 69.68 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012967 30
  • 55.38 (n)
Species where no ortholog for ARL2BP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ARL2BP Gene

ENSEMBL:
Gene Tree for ARL2BP (if available)
TreeFam:
Gene Tree for ARL2BP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARL2BP: view image

Paralogs for ARL2BP Gene

No data available for Paralogs for ARL2BP Gene

Variants for ARL2BP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARL2BP Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
728638 Benign: not provided 57,252,156(+) T/A INTRON_VARIANT
732902 Likely Benign: not provided 57,248,643(+) C/T SYNONYMOUS_VARIANT
791556 Benign: not provided 57,252,260(+) G/A MISSENSE_VARIANT
rs199830550 Likely Pathogenic: Retinal dystrophy. Pathogenic: Retinitis pigmentosa 82 with or without situs inversus 57,248,644(+) G/AG/T SPLICE_DONOR_VARIANT
rs398123053 Pathogenic: Retinitis pigmentosa 82 with or without situs inversus. Retinitis pigmentosa 82 with or without situs inversus (RP82) [MIM:615434] 57,248,570(+) T/Gp.Met45Arg MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ARL2BP Gene

Structural Variations from Database of Genomic Variants (DGV) for ARL2BP Gene

Variant ID Type Subtype PubMed ID
esv9721 CNV gain 19470904
nsv509621 CNV insertion 20534489

Variation tolerance for ARL2BP Gene

Residual Variation Intolerance Score: 65.9% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARL2BP Gene

Human Gene Mutation Database (HGMD)
ARL2BP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARL2BP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARL2BP Gene

Disorders for ARL2BP Gene

MalaCards: The human disease database

(11) MalaCards diseases for ARL2BP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 82 with or without situs inversus
  • rp82
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis pigmentosa 66
  • rp66
situs inversus
  • situs inversus viscerum
bartter syndrome, type 1, antenatal
  • antley-bixler syndrome with genital anomalies and disordered steroidogenesis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AR2BP_HUMAN
  • Retinitis pigmentosa 82 with or without situs inversus (RP82) [MIM:615434]: An autosomal recessive disorder characterized by variable association of retinitis pigmentosa with situs inversus. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Situs inversus is a congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions due to lateral transposition. {ECO:0000269 PubMed:23849777, ECO:0000269 PubMed:27790702}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ARL2BP

genes like me logo Genes that share disorders with ARL2BP: view

No data available for Genatlas for ARL2BP Gene

Publications for ARL2BP Gene

  1. Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. (PMID: 23849777) Davidson AE … Webster AR (American journal of human genetics 2013) 2 3 4 54
  2. The structure of binder of Arl2 (BART) reveals a novel G protein binding domain: implications for function. (PMID: 18981177) Bailey LK … Mott HR (The Journal of biological chemistry 2009) 2 3 4 54
  3. The ARF-like 2 (ARL2)-binding protein, BART. Purification, cloning, and initial characterization. (PMID: 10488091) Sharer JD … Kahn RA (The Journal of biological chemistry 1999) 2 3 4 54
  4. ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant. (PMID: 27790702) Audo I … Zeitz C (Clinical genetics 2017) 3 4 54
  5. Crystal structure of the ARL2-GTP-BART complex reveals a novel recognition and binding mode of small GTPase with effector. (PMID: 19368893) Zhang T … Ding J (Structure (London, England : 1993) 2009) 3 4 54

Products for ARL2BP Gene

Sources for ARL2BP Gene