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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAB23 Gene

protein-coding   GIFtS: 62
GCID: GC06M057100

RAB23, Member RAS Oncogene Family
  11 related diseases
at
MalaCards
 

Aliases
for RAB23 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
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


Summaries
for RAB23 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 beare-stevenson cutis gyrata syndrome, and among its related super-pathways are Basal cell carcinoma and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAN.

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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RAB23

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for RAB23 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9ULC3

    • RAB23 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAB23 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001265595.1  NP_001265596.1  NP_001265597.1  NP_057361.3  NP_899050.1  

    ENSEMBL proteins: 
     ENSP00000417610   ENSP00000320413  

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

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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--

    RAB23 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for RAB23 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 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


    RAB23 for domains           About GeneDecksing


    Function
    for RAB23 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA--
    GO:0005525GTP binding IEA--
         
    RAB23 for ontologies           About GeneDecksing


    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 

    RAB23 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RAB23 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RAB23

    miRNA
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    hsa-mir-155 (MIRT001513)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RAB23
    8/20 QIAGEN miScript miRNA 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 plasmid: RAB23 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of RAB23
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    Clone
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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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB23

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


    Pathways & Interactions
    for RAB23 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN 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


    RAB23 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAB23

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for RAB23 (Q9ULC33 ENSP000003204134) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREB3O438893I2D: score=1 
    GLI2ENSP000003545864STRING: ENSP00000354586
    RAB3IPENSP000003680864STRING: ENSP00000368086
    SMOENSP000002493734STRING: ENSP00000249373
    OPTNENSP000002630364STRING: ENSP00000263036
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (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--

    RAB23 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RAB23 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAB23

    Search CenterWatch for drugs/clinical trials and news about RAB23

    Transcripts
    for RAB23 gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/20 QIAGEN miScript miRNA 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 plasmid: RAB23 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene ORF clones in mouse, rat for RAB23
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB23
    Primer
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      QIAGEN 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 

    24/156 AceView cDNA sequences (see all 156):

    AA034020 AI078466 AI624225 BQ024315 AI684848 BQ437228 AI669457 AI093515 
    BF939214 AI699794 CB134602 AI337988 AI670097 AI095486 BU618863 NM_183227 
    AI742498 AA233335 AY585189 AW389620 AA134569 AA897243 AI417487 AA150152 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for RAB23 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAB23 expression in normal human tissues (normalized intensities)      RAB23 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Reproductive System (Reproductive System)    fully expand to see all 3 entries
             myometrium
     
     Brain (Nervous System)    fully expand to see all 2 entries
             brain/midbrain
     
     Spinal Cord (Nervous System)
             Primitive Spinal Cord
     
     Endothelium (Cardiovascular System)
             blood vessel
     
     Bone (Muscoskeletal System)

    See RAB23 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB23

    SOURCE GeneReport for Unigene cluster: Hs.555016
        SABiosciences Expression via Pathway-Focused PCR Arrays including RAB23: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat

    Primer
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    QIAGEN 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
    for RAB23 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for RAB23 gene from 7/15 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_001159729.11  NP_001153201.11 
     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
    		 Uncharacterized protein
    		 90(a)
    		 1 ↔ 1
    		 1(162975857-163007886)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.152952 Transcribed sequence with moderate similarity to protein spQ9ULC3 (H.sapiens) RB23_HUMAN Ras-related protein Rab-23 (Protein HSPC137) less 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
    CG2108-PA1    		 59(a)3
    59.94(n)1
    63.85(a)1    		   83B93
    407011  NM_141317.21  NP_649574.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes GSP26
    GSP16
    		 GTP binding protein (mammalian Ranp homolog) invol...
    Ran GTPase, GTP binding protein (mammalian Ranp ho...
    		 25(a)
    25(a)
    		 many ↔ many
    many ↔ many
    		 XV(681444-682106)
    XII(720771-721430)


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

    Paralogs
    for RAB23 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB23 gene
    RAN2  
    18/82 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    RAB19    RAB3D    RANP1
    RAB11B    RAB12    RAB5B    RAB9A    RAB8B    RAB17

    RAB23 for paralogs           About GeneDecksing



    Genomic Variants
    for RAB23 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/610 SNPs in RAB23 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing RAB23:
    Gastric Cancer
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    DNA2.0 Custom Variant and Variant Library Synthesis for RAB23

    Disorders / Diseases
    for RAB23 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RAB23 for disorders           About GeneDecksing

    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

    11 diseases for RAB23:    About MalaCards
    carpenter syndrome    beare-stevenson cutis gyrata syndrome    dextrocardia    pallister-hall syndrome
    craniosynostosis    sarcoidosis    obesity    gastric cancer
    hepatocellular carcinoma    tuberculosis    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for RAB23:
    Beare-Stevenson cutis gyrata syndrome     Craniosynostosis     Dextrocardia
    Genetic Association Database (GAD): RAB23

    Export disorders for RAB23 gene to outside databases

    Publications
    for RAB23 gene

    (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)
    About This Section

    PubMed articles for RAB23 gene, integrated from 9 sources (see all 31):
    (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. (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. (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. (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. (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. (2004)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (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. (2000)
    8. A Novel Aberrant Splice Site Mutation in RAB23 Leads t o an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Synd rome in a Consanguineous Emirati Family. (PubMed id 23599695)1 Ben-Salem S....Al-Gazali L. (2013)
    9. Sublocalization of Rab23, a mediator of Sonic hedgehog signaling pathway, in hepatocellular carcinoma cell lines. (PubMed id 23007279)1 Sun H.J....Huang S.H. (2012)
    10. Deregulation of Rab and Rab effector genes in bladder cancer. (PubMed id 22724020)1 Ho J.R....Goud B. (2012)

    External Searches for RAB23 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
    		PubMed
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    Genome Databases showing RAB23 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51715 HGNC: 14263 AceView: RAB23 Ensembl:ENSG00000112210 euGenes: HUgn51715
    ECgene: RAB23 Kegg: 51715 H-InvDB: RAB23

    Other Databases showing RAB23 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RAB23 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAB23 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB23 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for RAB23 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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