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RAB40C Gene

protein-coding   GIFtS: 51
GCID: GC16P000684

RAB40C, Member RAS Oncogene Family

(Previous names: RAS-like, family 8, member C)
(Previous symbol: RASL8C)
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(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
RAB40C, Member RAS Oncogene Family1 2     SOCS Box-Containing Protein RAR32 3
RASL8C1 2 3     RAR (RAS Like GTPASE) Like2
RAS-Like, Family 8, Member C1 2     RAR Like2
Rar-Like Protein2 3     RAS-Like GTPase2
Ras-Like Protein Family Member 8C2 3     Ras-Related Protein Rab-40C2
RARL2 3     

External Ids:    HGNC: 182851   Entrez Gene: 577992   Ensembl: ENSG000001975627   UniProtKB: Q96S213   

Export aliases for RAB40C gene to outside databases

Previous GC identifers: GC16P000659 GC16P000580 GC16P000561 GC16P000657 GC16P000664 GC16P000669 GC16P000672 GC16P000675 GC16P000677


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RAB40C Gene:
RAB40C (RAB40C, member RAS oncogene family) is a protein-coding gene. GO annotations related to this gene include GDP binding and GTP binding. An important paralog of this gene is RAB40A.

UniProtKB/Swiss-Prot: RB40C_HUMAN, Q96S21
Function: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3
ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target
proteins




(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_000016.9  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAB40C gene promoter:
         HEN1   AML1a   NRSF form 1   NCX/Ncx   LUN-1   NRSF form 2   YY1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAB40C promoter sequence
   Search Chromatin IP Primers for RAB40C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB40C


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

RAB40C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB40C gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000684:  view genomic region     (about GC identifiers)

Start:
639,357 bp from pter      End:
679,273 bp from pter
Size:
39,917 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: RB40C_HUMAN, Q96S21 (See protein sequence)
Recommended Name: Ras-related protein Rab-40C  
Size: 281 amino acids; 31304 Da
Subunit: Component of the probable SCF-like ECS(RAB40C) E3 ubiquitin-protein ligase complex which contains CUL5,
RNF7/RBX2, Elongin BC complex and RAB40C. Interacts with CUL5, RNF7, TCEB1 and TCEB2
Secondary accessions: A2IDE2 D3DU54 O60795 Q4TT41

Explore the universe of human proteins at neXtProt for RAB40C: NX_Q96S21

Explore proteomics data for RAB40C at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RAB40C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001166134.1  NP_001166135.1  NP_001166136.1  NP_001166137.1  NP_066991.3  

    ENSEMBL proteins: 
     ENSP00000454347   ENSP00000455029   ENSP00000457116   ENSP00000248139   ENSP00000457845  
     ENSP00000455232   ENSP00000455225   ENSP00000454383   ENSP00000438492   ENSP00000445050  
     ENSP00000438382  

    RAB40C Human Recombinant Protein Products:

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    Novus Biologicals RAB40C Proteins
    Novus Biologicals RAB40C Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RAB40C

     
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    EMD Millipore Mono- and Polyclonal Antibodies for the study of RAB40C
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    Search eBioscience for ELISAs for RAB40C 


    (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

    5 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type
     IPR027417 P-loop_NTPase
     IPR001496 SOCS_C

    Graphical View of Domain Structure for InterPro Entry Q96S21

    ProtoNet protein and cluster: Q96S21

    2 Blocks protein domains:
    IPB001496 SOCS protein
    IPB001806 Transforming protein P21 RAS signature


    UniProtKB/Swiss-Prot: RB40C_HUMAN, Q96S21
    Domain: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different
    E3 ubiquitin ligase complexes (By similarity)
    Similarity: Belongs to the small GTPase superfamily. Rab family
    Similarity: Contains 1 SOCS box domain


    Find genes that share domains with RAB40C           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: RB40C_HUMAN, Q96S21
    Function: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3
    ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target
    proteins

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity ----
    GO:0005525GTP binding IEA--
    GO:0019003GDP binding IEA--
         
    Find genes that share ontologies with RAB40C           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RAB40C:
     Decreased Salmonella enterica  

         1 MGI phenotypic allele for Rab40c (no phenotypes)

    Find genes that share phenotypes with RAB40C           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RAB40C
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAB40C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAB40C

    miRNA
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    miRTarBase miRNAs that target RAB40C:
    hsa-mir-484 (MIRT041652)

    Block miRNA regulation of human, mouse, rat RAB40C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAB40C (see all 24):
    hsa-miR-142-3p hsa-miR-520d-5p hsa-let-7d hsa-miR-29a hsa-miR-29c hsa-let-7c hsa-let-7g hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidRAB40C 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RAB40C
    Predesigned siRNA for gene silencing in human, mouse, rat RAB40C

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 5): RAB40C (NM_021168)
    Sino Biological Human cDNA Clone for RAB40C
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAB40C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB40C

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB40C


    (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
    RB40C_HUMAN, Q96S21: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    extracellular1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0048471perinuclear region of cytoplasm IEA--

    Find genes that share ontologies with RAB40C           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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    UniProtKB/Swiss-Prot: RB40C_HUMAN, Q96S21
    Pathway: Protein modification; protein ubiquitination

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAB40C
    Interactions:

        Search GeneGlobe Interaction Network for RAB40C

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

    Selected Interacting proteins for RAB40C (Q96S212, 3 ENSP000002481394) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOE1Q96GM82, 3, ENSP000003611624MINT-64604 I2D: score=3 STRING: ENSP00000361162
    TCEB2Q153703, ENSP000002623064I2D: score=2 STRING: ENSP00000262306
    CCDC64BA1A5D93, ENSP000003739984STRING: ENSP00000373998 I2D: score=1 
    RNF7Q9UBF63, ENSP000002734804I2D: score=1 STRING: ENSP00000273480
    TCEB1Q153693, ENSP000002848114I2D: score=2 STRING: ENSP00000284811
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    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0006886intracellular protein transport ----
    GO:0006913nucleocytoplasmic transport ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction IEA--

    Find genes that share ontologies with RAB40C           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 RAB40C (RB40C)



    (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 RAB40C gene (5 alternative transcripts): 
    NM_001172663.1  NM_001172664.1  NM_001172665.1  NM_001172666.1  NM_021168.4  

    Unigene Cluster for RAB40C:

    RAB40C, member RAS oncogene family
    Hs.459630  [show with all ESTs]
    Unigene Representative Sequence: NM_001172663
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000569575 ENST00000566290 ENST00000568586 ENST00000248139(uc002chr.3)
    ENST00000565511 ENST00000509637 ENST00000563109 ENST00000564703 ENST00000561781
    ENST00000535977(uc021szt.1) ENST00000539661(uc021szu.1) ENST00000538492(uc021szv.1 uc002chq.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RAB40C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAB40C (see all 24):
    hsa-miR-142-3p hsa-miR-520d-5p hsa-let-7d hsa-miR-29a hsa-miR-29c hsa-let-7c hsa-let-7g hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidRAB40C 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RAB40C
    Predesigned siRNA for gene silencing in human, mouse, rat RAB40C
    Clone
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    OriGene clones in human, mouse for RAB40C (see all 23)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): RAB40C (NM_021168)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAB40C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB40C
    Primer
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    OriGene qPCR primer pairs and template standards for RAB40C
    OriGene qSTAR qPCR primer pairs in human, mouse for RAB40C
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RAB40C
      QuantiTect SYBR Green Assays in human, mouse, rat RAB40C
      QuantiFast Probe-based Assays in human, mouse, rat RAB40C

    Additional mRNA sequence: 

    AK000584.1 AY823398.1 BC001581.1 BC014531.2 BC028696.1 

    17 DOTS entries:

    DT.95083922  DT.453980  DT.97840659  DT.100802005  DT.100802002  DT.92033462  DT.100682161  DT.86844847 
    DT.91765870  DT.91765872  DT.40308091  DT.95155374  DT.120687829  DT.91988367  DT.92019726  DT.95155363 
    DT.97765902 

    Selected AceView cDNA sequences (see all 243):

    AI377816 BQ685517 BM728190 BX383974 BF811156 AI307130 BQ717538 BX282685 
    AW516749 BQ233405 CD674470 BM997982 AW166046 BC001581 AI631038 BU619004 
    BF593711 BE217726 AI498001 BU527649 BQ287791 AI819096 BX280326 AF422194 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RAB40C (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for RAB40C

    (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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    RAB40C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTACCAGA
    RAB40C Expression
    About this image

    RAB40C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB40C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459630
        Custom PCR Arrays for RAB40C
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat RAB40C
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB40C

    (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.

    Orthologs for RAB40C gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab40c1 , 5 Rab40c, member RAS oncogene family1, 5 90.51(n)1
    99.29(a)1
      17 (12.97 cM)5
    2246241  NM_139154.21  NP_631893.11 
     258821145 
    chicken
    (Gallus gallus)
    Aves RAB40C1 RAB40C, member RAS oncogene family 88.26(n)
    97.51(a)
      769960  NM_001172662.1  NP_001166133.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB40C6
    RAB40C, member RAS oncogene family
    99(a)
    1 ↔ 1
    GL344540.1(15939-26376)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rab40c1 RAB40C, member RAS oncogene family 82.09(n)
    95.37(a)
      100492927  XM_004917991.1  XP_004918048.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rab40c2 rab40c, member RAS oncogene family 78.62(n)   368258  57085296 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG19003
    Rab401
    RAB small monomeric GTPase3
    Rab401
    59(a)3
    67.41(n)1
    69.2(a)1
      11A113
    321951  NM_167323.11  NP_727611.11 


    ENSEMBL Gene Tree for RAB40C (if available)
    TreeFam Gene Tree for RAB40C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAB40C gene
    RAB40A2  RAB40AL2  RAB40B2  
    Selected SIMAP similar genes for RAB40C using alignment to 10 protein entries:     RB40C_HUMAN (see all proteins) (see all similar genes):
    RAB40B    RAB40A    RAB40AL    rab1b    RAB28    DKFZp686J06205
    RAB19    RAB43    RAB30    RAB15    RAB10    RAB8B
    RAB8A    DKFZp686J07132    RAB11B    RAB3A    RAB37    RAB33A

    Find genes that share paralogs with RAB40C           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 RAB40C (see all 1121)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1475127141,2
    --637525(+) GAGGGC/TACAGC 1 -- us2k10--------
    rs740008291,2
    C,F--637668(+) TTCTTG/ATCCCA 1 -- us2k13Minor allele frequency- A:0.10WA CSA 122
    rs1916476291,2
    --637719(+) GGAGAA/GCGTTT 2 -- us2k10--------
    rs1385140131,2
    C--637728(+) TTTAC-/TTTG  
            
    GTTTT
    2 -- us2k10--------
    rs1179187141,2
    F--637743(+) TTTTTT/AAAAAA 2 -- us2k11Minor allele frequency- A:0.02EA 120
    rs672759261,2
    C--637804(+) GGCAC-/T/TT  
            
    TTTTT
    2 -- us2k11NA 2
    rs620309011,2
    C--637823(+) TTTTCC/TTGAGA 2 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1119276331,2
    C,F--637836(+) AGAGTC/TTCACT 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1500691401,2
    C--637854(+) CCAGGA/CTGGAG 2 -- us2k10--------
    rs1442260751,2
    --637982(+) TTTGTA/GTTTTC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RAB40C (639357 - 679273 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RAB40C (see all 35):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1293738CNV Deletion17803354
    esv2446759CNV Deletion19546169
    esv2750213CNV Deletion23290073
    nsv821458CNV Deletion20802225
    esv2422427CNV Duplication17116639
    esv1430130CNV Insertion17803354
    esv1254347CNV Insertion17803354
    dgv2475n71CNV Loss21882294
    nsv904760CNV Loss21882294
    dgv334n27CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAB40C
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB40C

    (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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    Find genes that share disorders with RAB40C           About GenesLikeMe

    Genetic Association Database (GAD): RAB40C

    Export disorders for RAB40C 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 RAB40C gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with RAB40C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rab GTPases and their roles in brain neurons and glia. (PubMed id 18485483)1, 3 Ng E.L. and Tang B.L. (Brain Res Rev 2008)
    2. Identification of ten loci associated with height highlights new biological pathways in human growth. (PubMed id 18391950)1, 4 Lettre G.... Hirschhorn J.N. (Nat. Genet. 2008)
    3. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 2004)
    4. VHL-box and SOCS-box domains determine binding specificity for Cul2- Rbx1 and Cul5-Rbx2 modules of ubiquitin ligases. (PubMed id 15601820)1, 2 Kamura T.... Nakayama K.I. (Genes Dev. 2004)
    5. Evolution of the Rab family of small GTP-binding proteins. (PubMed id 11697911)1, 3 Pereira-Leal J.B. and Seabra M.C. (J. Mol. Biol. 2001)
    6. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (Hum. Mol. Genet. 2001)
    7. Small GTPase Rab40c associates with lipid droplets and modulates the biogenesis of lipid droplets. (PubMed id 23638186)1 Tan R....Wang T. (PLoS ONE 2013)
    8. Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. (PubMed id 22993228)1 Williams F.M....Spector T.D. (Ann. Rheum. Dis. 2013)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis. (PubMed id 20360680)1 Schlager M.A....Hoogenraad C.C. (EMBO J. 2010)

    (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: 57799 HGNC: 18285 AceView: RAB40CandWFIKKN1 Ensembl:ENSG00000197562 euGenes: HUgn57799
    ECgene: RAB40C H-InvDB: RAB40C

    (According to HUGE)
    About This Section

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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 RAB40C Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB40C 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 RAB40C gene:
    Search GeneIP for patents involving RAB40C

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



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