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Aliases for ARL2BP Gene

Aliases for ARL2BP Gene

  • ADP Ribosylation Factor Like GTPase 2 Binding Protein 2 3 5
  • ADP-Ribosylation Factor-Like 2 Binding Protein 2 3
  • 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 GTPase 2 Binding Protein 3
  • ADP-Ribosylation Factor Like 2 Binding Protein 3
  • 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 with or without situs inversus and retinitis pigmentosa 66. Among its related pathways are Metabolism and Integration of energy metabolism. GO annotations related to this gene include transcription coactivator activity and GTPase regulator activity.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARL2BP Gene

Genomics for ARL2BP Gene

Regulatory Elements for ARL2BP Gene

Promoters for ARL2BP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARL2BP on UCSC Golden Path with GeneCards custom track

Genomic Location for ARL2BP Gene

Chromosome:
16
Start:
57,245,098 bp from pter
End:
57,253,635 bp from pter
Size:
8,538 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

Proteomics data for ARL2BP Gene at MOPED

Post-translational modifications for ARL2BP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARL2BP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ARL2BP Gene

Domains & Families for ARL2BP Gene

Protein Domains for ARL2BP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARL2BP Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for ARL2BP Gene

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.

Human Phenotype Ontology for ARL2BP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , 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
Jensen Localization Image for ARL2BP Gene COMPARTMENTS Subcellular localization image for ARL2BP gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 5
nucleus 5
golgi apparatus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ARL2BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005819 spindle IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with ARL2BP: view

Pathways & Interactions 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:0051457 maintenance of protein location in nucleus 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

Unigene Clusters for ARL2BP Gene

ADP-ribosylation factor-like 2 binding protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
ARL2BP

Expression for ARL2BP Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ARL2BP Gene



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.
genes like me logo Genes that share expression patterns with ARL2BP: view

Protein tissue co-expression partners for ARL2BP Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ARL2BP 35
  • 91.36 (n)
  • 96.3 (a)
ARL2BP 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARL2BP 35
  • 91.56 (n)
  • 95.68 (a)
ARL2BP 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arl2bp 35
  • 88.14 (n)
  • 95.71 (a)
Arl2bp 16
Arl2bp 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARL2BP 35
  • 99.8 (n)
  • 100 (a)
ARL2BP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arl2bp 35
  • 85.75 (n)
  • 94.66 (a)
oppossum
(Monodelphis domestica)
Mammalia ARL2BP 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 67 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves ARL2BP 35
  • 77.53 (n)
  • 83.7 (a)
ARL2BP 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARL2BP 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arl2bp 35
  • 69.85 (n)
  • 74.52 (a)
zebrafish
(Danio rerio)
Actinopterygii arl2bp 35
  • 69.68 (n)
  • 70.32 (a)
arl2bp 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012967 35
  • 55.38 (n)
  • 47.69 (a)
Species with no ortholog for ARL2BP:
  • 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)

Paralogs for ARL2BP Gene

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

No data available for Paralogs for ARL2BP Gene

Variants for ARL2BP Gene

Sequence variations from dbSNP and Humsavar for ARL2BP Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs7198865 - 57,249,818(+) TTCCT(A/G)AGTTC reference, missense
VAR_070227 Retinitis pigmentosa with or without situs inversus (RPSI)
rs9843 -- 57,253,077(+) GTGAA(A/G)GCAAA utr-variant-3-prime
rs14980 -- 57,253,421(-) TCTTC(A/G/T)TTCTA utr-variant-3-prime
rs1044196 -- 57,252,299(+) TCATT(C/T)TGGAT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv509621 CNV Insertion 20534489
esv9721 CNV Gain 19470904

Variation tolerance for ARL2BP Gene

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

Relevant External Links for ARL2BP Gene

HapMap Linkage Disequilibrium report
ARL2BP
Human Gene Mutation Database (HGMD)
ARL2BP

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

Disorders for ARL2BP Gene

MalaCards: The human disease database

(6) MalaCards diseases for ARL2BP Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa with or without situs inversus
  • rpsi
retinitis pigmentosa 66
  • rp66
retinitis pigmentosa
  • retinitis pigmentosa 1
situs inversus
  • complete transposition
retinitis pigmentosa 2
  • rp2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AR2BP_HUMAN
  • Retinitis pigmentosa with or without situs inversus (RPSI) [MIM:615434]: A 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ARL2BP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 A.E. … Webster A.R. (Am. J. Hum. Genet. 2013) 2 3 4 67
  2. The structure of binder of Arl2 (BART) reveals a novel G protein binding domain: implications for function. (PMID: 18981177) Bailey L.K. … Mott H.R. (J. Biol. Chem. 2009) 2 3
  3. The ARF-like 2 (ARL2)-binding protein, BART. Purification, cloning, and initial characterization. (PMID: 10488091) Sharer J.D. … Kahn R.A. (J. Biol. Chem. 1999) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. MicroRNA miR-BART20-5p stabilizes Epstein-Barr virus latency by directly targeting BZLF1 and BRLF1. (PMID: 24899173) Jung Y.J. … Lee S.K. (J. Virol. 2014) 3

Products for ARL2BP Gene

Sources for ARL2BP Gene

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