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RAB23 Gene

protein-coding   GIFtS: 62
GCID: GC06M057100

RAB23, Member RAS Oncogene Family

  See RAB23-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
RAB23, Member RAS Oncogene Family1 2
HSPC1372
RAB Family Small GTP Binding Protein RAB 232
Ras-Related Protein Rab-232

External Ids:    HGNC: 142631   Entrez Gene: 517152   Ensembl: ENSG000001122107   OMIM: 6061445   UniProtKB: Q9ULC33   

Export aliases for RAB23 gene to outside databases

Previous GC identifers: GC06M057055 GC06M057161 GC06M056887


(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 RAB23 Gene:
This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse
cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to
bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing
sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jul 2013)

GeneCards Summary for RAB23 Gene:
RAB23 (RAB23, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB23 include carpenter syndrome, and carpenter syndrome 1. GO annotations related to this gene include GTP binding and GTPase activity.

UniProtKB/Swiss-Prot: RAB23_HUMAN, Q9ULC3
Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of
transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active
GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible
for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and
thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise,
regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in
autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture
by autophagosomes that then merge with lysosomes

Gene Wiki entry for RAB23 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_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAB23 gene promoter:
         STAT1   FOXO4   STAT1beta   STAT5A   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAB23 promoter sequence
   Search Chromatin IP Primers for RAB23

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB23


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

Entrez Gene cytogenetic band: 6p11   Ensembl cytogenetic band:  6p11.2   HGNC cytogenetic band: 6p12.1

RAB23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB23 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M057100:  view genomic region     (about GC identifiers)

Start:
57,053,581 bp from pter      End:
57,087,078 bp from pter
Size:
33,498 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RAB23_HUMAN, Q9ULC3 (See protein sequence)
Recommended Name: Ras-related protein Rab-23 precursor  
Size: 237 amino acids; 26659 Da
Subunit: Interacts with SUFU
Secondary accessions: B2R9I5 Q68DJ6 Q8NI06 Q9P023

Explore the universe of human proteins at neXtProt for RAB23: NX_Q9ULC3

Explore proteomics data for RAB23 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys163
  • Modification sites at PhosphoSitePlus

  • See RAB23 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001265595.1  NP_001265596.1  NP_001265597.1  NP_057361.3  NP_899050.1  

    ENSEMBL proteins: 
     ENSP00000417610   ENSP00000320413  

    RAB23 Human Recombinant Protein Products:

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    Novus Biologicals RAB23 Proteins
    Novus Biologicals RAB23 Lysates
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for RAB23
    Cloud-Clone Corp. Proteins for RAB23

     
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    antibodies-online proteins for RAB23 (8 products) 

     
    antibodies-online peptides for RAB23

    RAB23 Antibody Products:

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    RAB23 Assay Products:

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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:
    RAB: RAB, member RAS oncogene

    4 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9ULC3

    ProtoNet protein and cluster: Q9ULC3

    1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB23_HUMAN, Q9ULC3
    Similarity: Belongs to the small GTPase superfamily. Rab family


    Find genes that share domains with RAB23           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: RAB23_HUMAN, Q9ULC3
    Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of
    transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active
    GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible
    for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and
    thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise,
    regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in
    autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture
    by autophagosomes that then merge with lysosomes

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA--
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with RAB23           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rab23):
     embryogenesis  integument  limbs/digits/tail  mortality/aging  nervous system 
     skeleton  vision/eye 

    Find genes that share phenotypes with RAB23           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RAB23

    miRNA
    Products:
        
    miRTarBase miRNAs that target RAB23:
    hsa-mir-16-5p (MIRT031846), hsa-mir-155-5p (MIRT001513), hsa-mir-17-5p (MIRT050809), hsa-mir-615-3p (MIRT040385), hsa-mir-215-5p (MIRT024924), hsa-mir-103a-3p (MIRT027149), hsa-mir-26b-5p (MIRT029882), hsa-mir-18a-5p (MIRT031315), hsa-mir-192-5p (MIRT026693)

    Block miRNA regulation of human, mouse, rat RAB23 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAB23 (see all 20):
    hsa-miR-30c hsa-miR-3128 hsa-miR-429 hsa-miR-1271 hsa-miR-25 hsa-miR-30d hsa-miR-30a hsa-miR-649
    SwitchGear 3'UTR luciferase reporter plasmidRAB23 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RAB23

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): RAB23 (NM_016277)
    Sino Biological Human cDNA Clone for RAB23
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAB23
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB23

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB23


    (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
    RAB23_HUMAN, Q9ULC3: Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Cell membrane. Cytoplasm.
    Cytoplasmic vesicle, autophagosome. Endosome membrane (By similarity). Cytoplasmic vesicle, phagosome.
    Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side (By similarity). Note=Recruited to
    phagosomes containing S.aureus or M.tuberculosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    vacuole5
    cytoskeleton3
    cytosol3
    endosome2
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA--
    GO:0005776autophagic vacuole IDA--
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with RAB23           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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    SuperPaths for RAB23 About    
    See pathways by source

    SuperPathContained pathways About
    1Basal cell carcinoma
    Hedgehog signaling pathway0.43
    2Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    3Hedgehog Signaling Pathway
    Hedgehog Signaling Pathway0.32
    4Hedgehog signaling events mediated by Gli proteins
    Hedgehog signaling events mediated by Gli proteins


    Find genes that share SuperPaths with RAB23           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RAB23
        Epithelial Tight Junctions

    2 BioSystems Pathways for RAB23
        Hedgehog Signaling Pathway
    Hedgehog signaling events mediated by Gli proteins



    1 Kegg Pathway  (Kegg details for RAB23):
        Hedgehog signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RAB23: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for RAB23

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for RAB23 (Q9ULC33 ENSP000003204134) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREB3O438893I2D: score=1 
    GLI2ENSP000003545864STRING: ENSP00000354586
    RAB3IPENSP000003680864STRING: ENSP00000368086
    SMOENSP000002493734STRING: ENSP00000249373
    OPTNENSP000002630364STRING: ENSP00000263036
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly IMP--
    GO:0006184GTP catabolic process IDA--
    GO:0006886intracellular protein transport ----
    GO:0006913nucleocytoplasmic transport ----
    GO:0006968cellular defense response IMP--

    Find genes that share ontologies with RAB23           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 RAB23



    (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 RAB23 gene (5 alternative transcripts): 
    NM_001278666.1  NM_001278667.1  NM_001278668.1  NM_016277.4  NM_183227.2  

    Unigene Cluster for RAB23:

    RAB23, member RAS oncogene family
    Hs.555016  [show with all ESTs]
    Unigene Representative Sequence: NM_016277
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468148 ENST00000317483(uc003pds.3 uc003pdt.3 uc010kac.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RAB23 (see all 20):
    hsa-miR-30c hsa-miR-3128 hsa-miR-429 hsa-miR-1271 hsa-miR-25 hsa-miR-30d hsa-miR-30a hsa-miR-649
    SwitchGear 3'UTR luciferase reporter plasmidRAB23 3' UTR sequence
    Inhib. RNA
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    OriGene qPCR primer pairs and template standards for RAB23
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RAB23
      QuantiTect SYBR Green Assays in human, mouse, rat RAB23
      QuantiFast Probe-based Assays in human, mouse, rat RAB23

    Additional mRNA sequence: 

    AB025427.1 AB034244.1 AF161486.1 AF498951.1 AK311123.1 AK313796.1 AY585189.1 BC015021.1 
    CR749371.1 

    8 DOTS entries:

    DT.100686704  DT.40217313  DT.92421553  DT.100784040  DT.121390121  DT.447994  DT.121389888  DT.97809189 

    Selected AceView cDNA sequences (see all 156):

    BF939214 AA694297 AI624225 CB134602 AI669457 AI699282 AI684848 AA406564 
    AI810826 BQ024315 CR621808 AW069459 BU625890 AI417487 AB025427 AI670097 
    AI095486 AI093515 AA034020 AI337988 AA150152 AA897243 BQ437228 BU618863 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RAB23 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c
    SP1:                          -     -     -                                                               
    SP2:                                                                                                      
    SP3:                          -     -     -     -     -     -                                             
    SP4:              -     -     -     -     -                                                               
    SP5:                                      -                                                               


    ECgene alternative splicing isoforms for RAB23

    (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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    RAB23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGTCATTTT
    RAB23 Expression
    About this image


    RAB23 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             Early Ameloblasts Dental Enamel
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
    RAB23 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB23 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.555016
        Pathway & Disease-focused RT2 Profiler PCR Arrays including RAB23: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat RAB23
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB23

    (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 RAB23 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab231 , 5 RAB23, member RAS oncogene family1, 5 86.92(n)1
    93.25(a)1
      1 (12.80 cM)5
    193351  NM_008999.41  NP_033025.21 
     337198825 
    chicken
    (Gallus gallus)
    Aves RAB231 RAB23, member RAS oncogene family 80.87(n)
    88.61(a)
      421879  NM_001110060.1  NP_001103530.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB236
    RAB23, member RAS oncogene family
    90(a)
    1 ↔ 1
    1(162975857-163007886)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.152952 Transcribed sequence with moderate similarity to protein more 79.19(n)    CF589439.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570348492   -- 99.82(n)    57034849 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG21083
    Rab231
    RAB small monomeric GTPase3
    Rab231
    59(a)3
    59.94(n)1
    63.85(a)1
      83B93
    407011  NM_141317.31  NP_649574.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TEM16
    GTP-binding protein of the ras superfamily involve...
    23(a)
    1 ↔ 1
    XIII(145139-145876) YML064C


    ENSEMBL Gene Tree for RAB23 (if available)
    TreeFam Gene Tree for RAB23 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAB23 gene
    Selected SIMAP similar genes for RAB23 using alignment to 1 protein entry:     RAB23_HUMAN(see all similar genes):
    RAB7A    DKFZp686J07132    RAB3C    RAB7B    RAB13    RAB3A
    RAB3B    RAB30    RAB11A    RAB11B    RAB19    RAB3D
    RANP1    RAB12    RAB5B    RAB9A    RAB8B    RAB17

    Find genes that share paralogs with RAB23           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 RAB23 (see all 610)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0652944
    Carpenter syndrome 1 (CRPT1)4--see VAR_0652942 M K mis40--------
    VAR_0349024
    Carpenter syndrome 1 (CRPT1)4--see VAR_0349022 C R mis40--------
    rs1219081711,2
    Cpathogenic156962419(-) AAAGTT/AAAGAT 4 /* /L stg11Minor allele frequency- A:0.00NA 4532
    rs1419236451,2
    C--56915689(+) TTGCC-/GCGGC 
    ATTTATAA
    GCGGC
    2 -- int10--------
    rs1911470241,2
    --56955996(+) AATTAC/TATTAC 2 -- ds50010--------
    rs1434521071,2
    C--56956104(+) CATAT-/AAAACAA 2 -- ds50010--------
    rs1460393781,2
    C--56956174(+) AAATT-/AAAG  
            
    AGGAG
    2 -- ds50010--------
    rs1493014821,2
    C--56956238(+) TCCAC-/TGTT  
            
    TGTTT
    2 -- ds50010--------
    rs1446804721,2
    --56956243(+) CTGTTC/TGTTAG 2 -- ds50010--------
    rs93826891,2
    C,F,A,H--56956323(+) AATAAG/ACATTT 2 -- ds500117Minor allele frequency- A:0.23NS EA NA CSA WA 2331

    HapMap Linkage Disequilibrium report for RAB23 (57053581 - 57087078 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RAB23:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv462949CNV Loss19166990

    Human Gene Mutation Database (HGMD): RAB23
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing RAB23:
    Gastric Cancer
    SeqTarget long-range PCR primers for resequencing RAB23
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB23

    (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: 606144   
    OMIM disorders: 201000  
    UniProtKB/Swiss-Prot: RAB23_HUMAN, Q9ULC3
  • Carpenter syndrome 1 (CRPT1) [MIM:201000]: A rare autosomal recessive disorder characterized by
    acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies;
    brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart
    defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral
    malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and
    hearing loss may be observed. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 4 diseases for RAB23:    
    About MalaCards
    carpenter syndrome    carpenter syndrome 1    dextrocardia    beare-stevenson cutis gyrata syndrome

    3 diseases from the University of Copenhagen DISEASES database for RAB23:
    Beare-Stevenson cutis gyrata syndrome     Craniosynostosis     Dextrocardia

    Find genes that share disorders with RAB23           About GenesLikeMe

    Genetic Association Database (GAD): RAB23

    Export disorders for RAB23 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 RAB23 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with RAB23)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)- dependent manner. (PubMed id 22365972)1, 2 Chi S.... Xie J. (Cell. Signal. 2012)
    2. The small GTPases Rab9A and Rab23 function at distinct steps in autophagy during group A Streptococcus infection. (PubMed id 22452336)1, 2 Nozawa T.... Nakagawa I. (Cell. Microbiol. 2012)
    3. Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. (PubMed id 21412941)1, 2 Jenkins D.... Wilkie A.O. (Hum. Mutat. 2011)
    4. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. (PubMed id 17503333)1, 2 Jenkins D.... Wilkie A.O.M. (Am. J. Hum. Genet. 2007)
    5. 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)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    7. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    8. [Role of Rab23 in invasion and migration of human breast cancer Bcap-37 cells]. (PubMed id 23948406)1 Zhao J....Chi S. (Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2013)
    9. A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family. (PubMed id 23599695)1 Ben-Salem S....Al-Gazali L. (Mol Syndromol 2013)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 51715 HGNC: 14263 AceView: RAB23 Ensembl:ENSG00000112210 euGenes: HUgn51715
    ECgene: RAB23 Kegg: 51715 H-InvDB: RAB23

    (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)
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    NameDescription
    PharmGKB entry for RAB23 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB23 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAB23 gene:
    Search GeneIP for patents involving RAB23

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



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