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ARL13B Gene

protein-coding   GIFtS: 51
GCID: GC03P093698

ADP-Ribosylation Factor-Like 13B

(Previous name: ADP-ribosylation factor-like 2-like 1)
(Previous symbol: ARL2L1)
  See ARL13B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ADP-Ribosylation Factor-Like 13B1 2     JBTS82 5
ARL2L11 2 3 5     ADP-Ribosylation Factor-Like Protein 13B2
ADP-Ribosylation Factor-Like 2-Like 11 2     ADP-Ribosylation Factor-Like Protein 2-Like 13
ARL2-Like Protein 12 3     

External Ids:    HGNC: 254191   Entrez Gene: 2008942   Ensembl: ENSG000001693797   OMIM: 6089225   UniProtKB: Q3SXY83   

Export aliases for ARL13B gene to outside databases

Previous GC identifers: GC03P095182 GC03P091061


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include GTP binding. An important paralog of this gene is ARL13A.

UniProtKB/Swiss-Prot: AR13B_HUMAN, Q3SXY8
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 Wiki entry for ARL13B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARL13B gene promoter:
         PPAR-gamma1   FOXF2   Sp1   FOXD3   PPAR-gamma2   HNF-3beta   ATF6   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARL13B promoter sequence
   Search Chromatin IP Primers for ARL13B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARL13B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q11.1   Ensembl cytogenetic band:  3q11.1   HGNC cytogenetic band: 3q11

ARL13B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARL13B gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P093698:  view genomic region     (about GC identifiers)

Start:
93,698,983 bp from pter      End:
93,774,522 bp from pter
Size:
75,540 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AR13B_HUMAN, Q3SXY8 (See protein sequence)
Recommended Name: ADP-ribosylation factor-like protein 13B  
Size: 428 amino acids; 48643 Da
Subunit: 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
Caution: Was initially thought to form a homodimer (PubMed:18554500). However, 3D structure of C.reinhardtii
ortholog showed that it is probably not the case
Secondary accessions: D3DN29 G3V1S8 Q504W8 Q8TCL5
Alternative splicing: 3 isoforms:  Q3SXY8-1   Q3SXY8-2   Q3SXY8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARL13B: NX_Q3SXY8

Explore proteomics data for ARL13B at MOPED

Post-translational modifications: 

  • Sumoylation is required for PKD2 entry into cilium1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARL13B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001167621.1  NP_001167622.1  NP_659433.2  NP_878899.1  

    ENSEMBL proteins: 
     ENSP00000417702   ENSP00000306225   ENSP00000377769   ENSP00000420780   ENSP00000417263  
     ENSP00000335400   ENSP00000418128   ENSP00000445145   ENSP00000437977  

    ARL13B Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ARL13B

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARL: ADP-ribosylation factors-like
    ARF: ADP-ribosylation factors

    4 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR027417 P-loop_NTPase
     IPR006689 Small_GTPase_ARF/SAR
     IPR024156 Small_GTPase_ARF

    Graphical View of Domain Structure for InterPro Entry Q3SXY8

    ProtoNet protein and cluster: Q3SXY8

    UniProtKB/Swiss-Prot: AR13B_HUMAN, Q3SXY8
    Similarity: Belongs to the small GTPase superfamily. Arf family


    Find genes that share domains with ARL13B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AR13B_HUMAN, Q3SXY8
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with ARL13B           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ARL13B:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arl13b):
     embryogenesis  growth/size/body  mortality/aging  nervous system  respiratory system 

    Find genes that share phenotypes with ARL13B           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARL13B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARL13B
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    miRNA
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    miRTarBase miRNAs that target ARL13B:
    hsa-mir-132-3p (MIRT021785), hsa-mir-106b-5p (MIRT020451)

    Block miRNA regulation of human, mouse, rat ARL13B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARL13B (see all 13):
    hsa-miR-3671 hsa-miR-3163 hsa-miR-505 hsa-miR-548am hsa-miR-607 hsa-miR-520d-5p hsa-miR-519c-3p hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidARL13B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARL13B

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARL13B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AR13B_HUMAN, Q3SXY8: 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: 

    CompartmentConfidence
    cytosol3
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--
    GO:0005929cilium ISS--
    GO:0060170ciliary membrane ISS--
    GO:0072372primary cilium ISS--

    Find genes that share ontologies with ARL13B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including ARL13B: 
              Primary Cilia in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ARL13B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ARL13B (ENSP000003777694) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDE6DENSP000002876004STRING: ENSP00000287600
    AP3D1ENSP000003440554STRING: ENSP00000344055
    COG6ENSP000003974414STRING: ENSP00000397441
    COG8ENSP000003054594STRING: ENSP00000305459
    STX16ENSP000003601834STRING: ENSP00000360183
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport ----
    GO:0007224smoothened signaling pathway ISS--
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0007368determination of left/right symmetry IEA--
    GO:0009953dorsal/ventral pattern formation IEA--

    Find genes that share ontologies with ARL13B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARL13B (AR13B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ARL13B gene (4 alternative transcripts): 
    NM_001174150.1  NM_001174151.1  NM_144996.3  NM_182896.2  

    Unigene Cluster for ARL13B:

    ADP-ribosylation factor-like 13B
    Hs.533086  [show with all ESTs]
    Unigene Representative Sequence: NM_001174150
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478400 ENST00000303097 ENST00000394222 ENST00000471138 ENST00000460371
    ENST00000335438 ENST00000486562 ENST00000475206 ENST00000492165 ENST00000535334(uc003drc.3 uc010hop.3 uc003drf.3 uc003drg.3 uc003drd.3 uc003dre.3)
    ENST00000539730
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ARL13B (see all 13):
    hsa-miR-3671 hsa-miR-3163 hsa-miR-505 hsa-miR-548am hsa-miR-607 hsa-miR-520d-5p hsa-miR-519c-3p hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidARL13B 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat ARL13B
      QuantiFast Probe-based Assays in human, mouse, rat ARL13B

    Additional mRNA sequence: 

    AK296994.1 AK299284.1 AL713789.1 BC015439.1 BC031093.1 BC062993.1 BC094725.1 BC104033.1 
    BC104034.1 BC104035.1 BC104036.1 CR936753.1 CR936756.1 CR936763.1 NR_033427.1 

    11 DOTS entries:

    DT.120888297  DT.101981505  DT.120888272  DT.101964510  DT.441315  DT.91756346  DT.424274  DT.100660196 
    DT.120888282  DT.40261961  DT.40129974 

    Selected AceView cDNA sequences (see all 80):

    AI732112 AA343517 NM_182896 BU903002 BC062993 AL710929 AA343713 AI269837 
    AL713789 AA806254 BM672512 AA044587 AW473410 BQ019265 BC015439 AW300919 
    BU740953 AA721392 AA775026 NM_144996 AI821141 T70830 BU607899 BE888518 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARL13B (see all 8)    About this scheme

    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:                          -                 -                                                                           


    ECgene alternative splicing isoforms for ARL13B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ARL13B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ARL13B Expression
    About this image


    ARL13B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    ARL13B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARL13B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.533086
        Pathway & Disease-focused RT2 Profiler PCR Array including ARL13B: 
              Primary Cilia in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for ARL13B
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    QuantiFast Probe-based Assays in human, mouse, rat ARL13B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARL13B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ARL13B gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arl13b1 , 5 ADP-ribosylation factor-like 13B1, 5 82.94(n)1
    81.6(a)1
      16 (36.43 cM)5
    681461  NM_026577.31  NP_080853.31 
     627936855 
    chicken
    (Gallus gallus)
    Aves ARL13B1 ADP-ribosylation factor-like 13B 72.22(n)
    70.48(a)
      418431  XM_004938309.1  XP_004938366.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARL13B6
    ADP-ribosylation factor-like 13B
    69(a)
    1 ↔ 1
    3(166290663-166344143)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.289732 Xenopus laevis transcribed sequence with strong similarity more 79.81(n)    48057638 
    zebrafish
    (Danio rerio)
    Actinopterygii dkfzp761h0792 hypothetical protein DKFZp761H079 homolog (human) 74.24(n)   286784  AF506213.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG178196
    --
    27(a)
    1 → many
    3R(17710450-17711272)
    worm
    (Caenorhabditis elegans)
    Secernentea Y54E10BR.26
    Protein Y54E10BR.2 (Y54E10BR.2) mRNA, complete cds...
    26(a)
    1 → many
    I(3032967-3034761) WBGene00021841
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARL36
    GTPase of the Ras superfamily required to recruit ...
    30(a)
    1 → many
    XVI(459963-460559) YPL051W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for ARL13B gene
    ARL13A2  ARFRP12  
    Selected SIMAP similar genes for ARL13B using alignment to 7 protein entries:     AR13B_HUMAN (see all proteins) (see all similar genes):
    KIAA1651    PCTP    ZNF670    ZNF195    C14orf178    ZNF843
    PPP2R1A    PKN1    ARL14    FP6651    TMEM135    OK/SW-cl.41
    ARL2    ARL3    PLA2G15    AREL1    FAM138C    ARL9

    Find genes that share paralogs with ARL13B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ARL13B (see all 1254)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0543724
    Joubert syndrome 8 (JBTS8)4--see VAR_0543722 R C mis40--------
    VAR_0543714
    Joubert syndrome 8 (JBTS8)4--see VAR_0543712 R Q mis40--------
    rs130778551,2
    A--93669542(+) ttttgG/Tttttt 5 -- us2k10--------
    rs2010517801,2
    --93669550(+) TTTTT-/TGTTTTT 5 -- us2k10--------
    rs73730151,2
    C,A--93669551(+) TTTTTT/GTTTTT 5 -- us2k13Minor allele frequency- G:0.00NA WA 6
    rs1995729681,2
    --93669551(+) TTTTT-/GTTTTT 5 -- us2k10--------
    rs130778671,2
    C,A--93669566(+) ttttgG/Tatttt 5 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1827651721,2
    --93669712(+) GAGAGC/TTCCTG 5 -- us2k10--------
    rs1451255071,2
    --93669713(+) AGAGCG/TCCTGT 5 -- us2k10--------
    rs1874827441,2
    --93669721(+) TGTGAA/GATCTC 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARL13B (93698983 - 93774522 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ARL13B: --
    Human Gene Mutation Database (HGMD): ARL13B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARL13B
    DNA2.0 Custom Variant and Variant Library Synthesis for ARL13B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608922   
    OMIM disorders: 612291  
    UniProtKB/Swiss-Prot: AR13B_HUMAN, Q3SXY8
  • 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 5 diseases for ARL13B:    
    About MalaCards
    joubert syndrome 8    arl13b-related joubert syndrome    joubert syndrome 21    asphyxiating thoracic dystrophy
    joubert syndrome and related disorders

    3 diseases from the University of Copenhagen DISEASES database for ARL13B:
    Asphyxiating thoracic dystrophy     Polydactyly     Cystic kidney

    Find genes that share disorders with ARL13B           About GenesLikeMe

    GeneTests: ARL13B
    GeneReviews: ARL13B
    Human Genome Epidemiology (HuGE) Navigator: ARL13B (1 document)

    Export disorders for ARL13B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ARL13B gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with ARL13B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. (PubMed id 18674751)1, 2, 3 Cantagrel V....Gleeson J.G. (Am. J. Hum. Genet. 2008)
    2. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. (PubMed id 15314642)1, 2, 3 Fan Y.... Leroux M.R. (Nat. Genet. 2004)
    3. ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. (PubMed id 23150559)1, 2 Humbert M.C....Seo S. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    4. SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors. (PubMed id 23128241)1, 2 Li Y....Hu J. (J. Cell Biol. 2012)
    5. Arl13b regulates endocytic recycling traffic. (PubMed id 23223633)1, 2 Barral D.C....Brenner M.B. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. (PubMed id 21068128)1, 2 Otto E.A.... Hildebrandt F. (J. Med. Genet. 2011)
    7. Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation. (PubMed id 18554500)1, 2 Hori Y....Katada T. (Biochem. Biophys. Res. Commun. 2008)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Structural insights into the small G-protein Arl13B and implications for Joubert syndrome. (PubMed id 24168557)1 Miertzschke M....Wittinghofer A. (Biochem. J. 2014)
    10. Asymmetric inheritance of centrosome-associated primary cilium membrane directs ciliogenesis after cell division. (PubMed id 24120134)2 Paridaen J.T.... Huttner W.B. (Cell 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 200894 HGNC: 25419 AceView: ARL2L1 Ensembl:ENSG00000169379 euGenes: HUgn200894
    ECgene: ARL13B H-InvDB: ARL13B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ARL13B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ARL13B[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ARL13B gene:
    Search GeneIP for patents involving ARL13B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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