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Aliases for ARL2BP Gene

Aliases for ARL2BP Gene

  • ADP Ribosylation Factor Like GTPase 2 Binding Protein 2 3 5
  • 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 Protein 2-Binding Protein 3
  • ADP-Ribosylation Factor-Like 2 Binding Protein 2
  • 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 Arl2bp-Related Retinitis Pigmentosa. Among its related pathways are Integration of energy metabolism and 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 CIViC summary , 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

Enhancers for ARL2BP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G057298 1.7 Ensembl ENCODE dbSUPER 11.6 +55.0 54982 2.8 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A MEF2D SSRP1 ZNF610 POLR2C RSPRY1 CCL22 CX3CL1 ARL2BP CIAPIN1 COQ9 CSNK2A2 LOC101927556 PLLP
GH16G057626 1.6 Ensembl ENCODE dbSUPER 10.1 +383.7 383687 4.8 HDGF PKNOX1 SIN3A ARID4B DMAP1 YBX1 ZNF2 ZNF766 ZNF302 ZNF416 RSPRY1 LOC101927556 POLR2C LOC105371286 NUP93 ADGRG3 CCDC102A SETD6 ARL2BP CNGB1
GH16G057303 1.5 Ensembl ENCODE dbSUPER 10.7 +59.6 59595 2.2 HDGF PKNOX1 FOXA2 ATF1 MLX ZFP64 WRNIP1 ARID4B DMAP1 YY1 CCL22 CX3CL1 PLLP ARL2BP TRL-CAG2-2 RPL23AP91
GH16G057141 1.4 Ensembl ENCODE dbSUPER 10.4 -101.3 -101345 5.1 HDAC1 ELF3 PKNOX1 FOXA2 RAD21 ZNF335 TCF12 ZNF121 GATA2 EGR1 FAM192A PLLP RSPRY1 ARL2BP BBS2 ENSG00000279803 ENSG00000279019
GH16G057416 1.3 Ensembl ENCODE 10.9 +172.8 172849 3.7 HDGF FOXA2 WRNIP1 ARID4B ZNF2 YY1 ZNF143 ZNF207 ZNF263 REST CIAPIN1 NUDT21 CX3CL1 CCL22 PLLP POLR2C ARL2BP GC16P057430 CCL17
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARL2BP on UCSC Golden Path with GeneCards custom track

Promoters for ARL2BP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000086398 302 1601 PKNOX1 FOXA2 CREB3L1 MLX ARNT WRNIP1 ZFP64 SIN3A ARID4B DMAP1

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

Post-translational modifications for ARL2BP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARL2BP Gene

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.

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

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) , 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
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
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:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005758 mitochondrial intermembrane space IDA,IEA 11809823
GO:0005759 mitochondrial matrix TAS --
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:0007165 signal transduction TAS 10488091
GO:0042517 positive regulation of tyrosine phosphorylation of Stat3 protein IMP --
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IMP 18234692
GO:0050790 regulation of catalytic activity IEA --
GO:0050796 regulation of insulin secretion TAS --
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:

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ARL2BP Gene



Protein tissue co-expression partners for ARL2BP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARL2BP Gene:

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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ARL2BP 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia ARL2BP 34 35
  • 91.56 (n)
cow
(Bos Taurus)
Mammalia ARL2BP 34 35
  • 91.36 (n)
mouse
(Mus musculus)
Mammalia Arl2bp 34 16 35
  • 88.14 (n)
oppossum
(Monodelphis domestica)
Mammalia ARL2BP 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Arl2bp 34
  • 85.75 (n)
chicken
(Gallus gallus)
Aves ARL2BP 34 35
  • 77.53 (n)
lizard
(Anolis carolinensis)
Reptilia ARL2BP 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arl2bp 34
  • 69.85 (n)
zebrafish
(Danio rerio)
Actinopterygii arl2bp 34 35
  • 69.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012967 34
  • 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)

Paralogs for ARL2BP Gene

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
rs398123053 Pathogenic, Retinitis pigmentosa with or without situs inversus (RPSI) [MIM:615434] 57,248,570(+) TTTCA(G/T)GGACA reference, missense
rs879255568 Pathogenic 57,248,536(+) GTTCA(C/G)ATGAC splice-acceptor-variant
rs1000212508 -- 57,248,727(+) TTGCT(A/G)CCTTT intron-variant
rs1000601562 -- 57,245,097(+) GGTGA(A/C)AGGAG upstream-variant-2KB
rs1000675086 -- 57,245,226(+) AGGCC(G/T)GACCT upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
retinitis pigmentosa with or without situs inversus
  • rpsi
arl2bp-related retinitis pigmentosa
  • retinitis pigmentosa with or without situs inversus
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis pigmentosa 66
  • rp66
situs inversus
  • complete transposition
- 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 64
  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 4 64
  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 64
  4. 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 2009) 3 4 64
  5. BART is essential for nuclear retention of STAT3. (PMID: 18234692) Muromoto R. … Matsuda T. (Int. Immunol. 2008) 3 4 64

Products for ARL2BP Gene

Sources for ARL2BP Gene

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