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Aliases for ARL13B Gene

Aliases for ARL13B Gene

  • ADP-Ribosylation Factor-Like 13B 2 3
  • ADP-Ribosylation Factor-Like 2-Like 1 2 3
  • ARL2-Like Protein 1 3 4
  • ARL2L1 3 4
  • ADP-Ribosylation Factor-Like Protein 2-Like 1 4
  • JBTS8 3

External Ids for ARL13B Gene

Previous HGNC Symbols for ARL13B Gene

  • ARL2L1

Previous GeneCards Identifiers for ARL13B Gene

  • GC03P095182
  • GC03P093698
  • GC03P091061

Summaries for ARL13B Gene

Entrez Gene Summary for ARL13B Gene

  • This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

GeneCards Summary for ARL13B Gene

ARL13B (ADP-Ribosylation Factor-Like 13B) is a Protein Coding gene. Diseases associated with ARL13B include joubert syndrome 8 and arl13b-related joubert syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include GTP binding. An important paralog of this gene is ARL13A.

UniProtKB/Swiss-Prot for ARL13B Gene

  • Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidences are required to confirm these data.

Gene Wiki entry for ARL13B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARL13B Gene

Genomics for ARL13B Gene

Regulatory Elements for ARL13B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ARL13B Gene

Chromosome:
3
Start:
93,980,134 bp from pter
End:
94,055,678 bp from pter
Size:
75,545 bases
Orientation:
Plus strand

Genomic View for ARL13B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARL13B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARL13B Gene

Proteins for ARL13B Gene

  • Protein details for ARL13B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SXY8-AR13B_HUMAN
    Recommended name:
    ADP-ribosylation factor-like protein 13B
    Protein Accession:
    Q3SXY8
    Secondary Accessions:
    • D3DN29
    • G3V1S8
    • Q504W8
    • Q8TCL5

    Protein attributes for ARL13B Gene

    Size:
    428 amino acids
    Molecular mass:
    48643 Da
    Quaternary structure:
    • Monomer (By similarity). Interacts with PIFO. Interacts with IFT complex B components IFT46 and IFT74.
    Miscellaneous:
    • Used as a ciliary marker because of its specific localization to microtubule doublets of the ciliary axoneme

    Alternative splice isoforms for ARL13B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARL13B Gene

Proteomics data for ARL13B Gene at MOPED

Post-translational modifications for ARL13B Gene

Antibody Products

No data available for DME Specific Peptides for ARL13B Gene

Domains & Families for ARL13B Gene

Gene Families for ARL13B Gene

Protein Domains for ARL13B Gene

Graphical View of Domain Structure for InterPro Entry

Q3SXY8

UniProtKB/Swiss-Prot:

AR13B_HUMAN :
  • Belongs to the small GTPase superfamily. Arf family.
Family:
  • Belongs to the small GTPase superfamily. Arf family.
genes like me logo Genes that share domains with ARL13B: view

Function for ARL13B Gene

Molecular function for ARL13B Gene

UniProtKB/Swiss-Prot Function:
Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidences are required to confirm these data.

Gene Ontology (GO) - Molecular Function for ARL13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20643351
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with ARL13B: view
genes like me logo Genes that share phenotypes with ARL13B: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARL13B

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ARL13B Gene

Localization for ARL13B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARL13B Gene

Cell projection, cilium membrane; Lipid-anchor. Note=Associates to the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARL13B Gene COMPARTMENTS Subcellular localization image for ARL13B gene
Compartment Confidence
plasma membrane 4
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for ARL13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005929 cilium ISS --
GO:0005930 axoneme IEA --
GO:0031514 motile cilium IEA --
GO:0060170 ciliary membrane ISS --
genes like me logo Genes that share ontologies with ARL13B: view

Pathways & Interactions for ARL13B Gene

genes like me logo Genes that share pathways with ARL13B: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for ARL13B Gene

Gene Ontology (GO) - Biological Process for ARL13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping IEA --
GO:0006886 intracellular protein transport --
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway ISS --
GO:0007264 small GTPase mediated signal transduction IEA --
genes like me logo Genes that share ontologies with ARL13B: view

No data available for SIGNOR curated interactions for ARL13B Gene

Drugs & Compounds for ARL13B Gene

No Compound Related Data Available

Transcripts for ARL13B Gene

Unigene Clusters for ARL13B Gene

ADP-ribosylation factor-like 13B:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARL13B

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARL13B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - -
SP2: - - - - - -
SP3: - -
SP4: - - - - -
SP5: - -
SP6:
SP7: - - - - -
SP8: - - - - - - -

Relevant External Links for ARL13B Gene

GeneLoc Exon Structure for
ARL13B
ECgene alternative splicing isoforms for
ARL13B

Expression for ARL13B Gene

mRNA expression in normal human tissues for ARL13B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARL13B Gene

This gene is overexpressed in Urine (46.0) and Retina (21.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARL13B Gene



SOURCE GeneReport for Unigene cluster for ARL13B Gene Hs.533086

genes like me logo Genes that share expression patterns with ARL13B: view

Protein tissue co-expression partners for ARL13B Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ARL13B Gene

Orthologs for ARL13B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARL13B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ARL13B 35
  • 90.63 (n)
  • 88.76 (a)
ARL13B 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARL13B 35
  • 90.5 (n)
  • 86.68 (a)
ARL13B 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arl13b 35
  • 82.94 (n)
  • 81.6 (a)
Arl13b 16
Arl13b 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARL13B 35
  • 99.61 (n)
  • 98.83 (a)
ARL13B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arl13b 35
  • 83.57 (n)
  • 82.31 (a)
oppossum
(Monodelphis domestica)
Mammalia ARL13B 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARL13B 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARL13B 35
  • 72.22 (n)
  • 70.48 (a)
ARL13B 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARL13B 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arl13b 35
  • 69.33 (n)
  • 69.88 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28973 35
zebrafish
(Danio rerio)
Actinopterygii arl13b 35
  • 66.09 (n)
  • 64.44 (a)
dkfzp761h079 35
arl13b 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17819 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y54E10BR.2 36
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARL3 36
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4535 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
Species with no ortholog for ARL13B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 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)

Evolution for ARL13B Gene

ENSEMBL:
Gene Tree for ARL13B (if available)
TreeFam:
Gene Tree for ARL13B (if available)

Paralogs for ARL13B Gene

Paralogs for ARL13B Gene

genes like me logo Genes that share paralogs with ARL13B: view

Variants for ARL13B Gene

Sequence variations from dbSNP and Humsavar for ARL13B Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs4470565 -- 94,034,975(+) TGATA(C/T)CTGTA intron-variant
rs4535269 -- 93,978,416(-) tatag(A/G)catga upstream-variant-2KB
rs4572809 -- 94,009,333(+) TTTTT(G/T)TTTGT intron-variant
rs5850922 -- 94,048,036(+) CACAC(-/AC)GGCAA intron-variant
rs6147954 -- 93,999,114(+) TTTAT(-/TTAT)AATTT intron-variant

Variation tolerance for ARL13B Gene

Residual Variation Intolerance Score: 80.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARL13B Gene

HapMap Linkage Disequilibrium report
ARL13B
Human Gene Mutation Database (HGMD)
ARL13B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ARL13B Gene

Disorders for ARL13B Gene

MalaCards: The human disease database

(10) MalaCards diseases for ARL13B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 8
  • jbts8
arl13b-related joubert syndrome
  • joubert syndrome 8
joubert syndrome 1
  • joubert syndrome
joubert syndrome and related disorders
  • jsrd
ciliopathy
- elite association

UniProtKB/Swiss-Prot

AR13B_HUMAN
  • Joubert syndrome 8 (JBTS8) [MIM:612291]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269 PubMed:18674751}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ARL13B

Human Genome Epidemiology (HuGE) Navigator
ARL13B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARL13B
genes like me logo Genes that share disorders with ARL13B: view

No data available for Genatlas for ARL13B Gene

Publications for ARL13B Gene

  1. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. (PMID: 18674751) Cantagrel V. … Gleeson J.G. (Am. J. Hum. Genet. 2008) 2 67
  2. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. (PMID: 15314642) Fan Y. … Leroux M.R. (Nat. Genet. 2004) 2 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly. (PMID: 24421332) Kobayashi T. … Dynlacht B.D. (J. Cell Biol. 2014) 67
  5. Structural insights into the small G-protein Arl13B and implications for Joubert syndrome. (PMID: 24168557) Miertzschke M. … Wittinghofer A. (Biochem. J. 2014) 67

Products for ARL13B Gene

Sources for ARL13B Gene

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