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

RAB38 Gene

protein-coding   GIFtS: 55
GCID: GC11M087846

RAB38, member RAS oncogene family

 Explore 6 diseases affiliated with
RAB38 via our new
 Human Malady Compendium 
Biological research products
for RAB38
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RAB38, Member RAS Oncogene Family1 2
NY-MEL-11 2
Melanoma Antigen NY-MEL-12 3
Rab-Related GTP-Binding Protein2
Ras-Related Protein Rab-382
RrGTPbp1

External Ids:    HGNC: 97761   Entrez Gene: 236822   Ensembl: ENSG000001238927   OMIM: 6062815   UniProtKB: P577293   

Export aliases for RAB38 gene to outside databases

Previous GC identifers: GC11M090169 GC11M089393 GC11M088030 GC11M087534 GC11M087486 GC11M084086


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RAB38_HUMAN, P57729
Function: May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Plays a role
in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis

Gene Wiki entry for RAB38


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB38 gene promoter:
         STAT5A   HNF-3beta   PPAR-gamma1   POU2F1   POU2F1a   POU2F1b   STAT3   PPAR-gamma2   POU2F1c   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB38 promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB38

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB38


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

Entrez Gene cytogenetic band: 11q14   Ensembl cytogenetic band:  11q14.2   HGNC cytogenetic band: 11q14

RAB38 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB38 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M087846:  view genomic region     (about GC identifiers)

Start:
87,846,431 bp from pter      End:
87,908,635 bp from pter
Size:
62,205 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: RAB38_HUMAN, P57729 (See protein sequence)
Recommended Name: Ras-related protein Rab-38  
Size: 211 amino acids; 23712 Da
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Melanosome. 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: Q53XK7

Explore the universe of human proteins at neXtProt for RAB38: NX_P57729

Post-translational modifications:

  • Although at least one in vitro system can process and methylate the prenylated C-terminal, in an in vitro system that
  • normally express Rab-38 and in vivo the prenylated C-terminal is not proteolytically processed and not methylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P57729

  • RAB38 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_071732.1  
    ENSEMBL proteins: 
     ENSP00000243662   ENSP00000435340   ENSP00000433317  

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    Novus Biologicals RAB38 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RAB38

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005886plasma membrane IEA--
    GO:0030670phagocytic vesicle membrane IEA--
    GO:0042470melanosome IEA--
    GO:0045335phagocytic vesicle IDA--


    RAB38 for ontologies           About GeneDecksing



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

    RAB38 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type

    Graphical View of Domain Structure for InterPro Entry P57729

    ProtoNet protein and cluster: P57729

    1 Blocks protein family: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB38_HUMAN, P57729
    Similarity: Belongs to the small GTPase superfamily. Rab family


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

    Function Summary:

         UniProtKB/Swiss-Prot: RAB38_HUMAN, P57729
    Function: May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Plays a role
    in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidRAB38 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity NAS10910072
    GO:0005515protein binding ----
    GO:0005525GTP binding NAS10910072


    RAB38 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RAB38:
     Upregulation of Wnt/beta-caten 

    Animal Models:
         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rab38):
     hematopoietic system  homeostasis/metabolism  integument  no phenotypic analysis  pigmentation 
     respiratory system  vision/eye 

    RAB38 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeletal Signaling
    Cytoskeletal Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RAB38
        Cytoskeletal Signaling



    RAB38 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAB38

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for RAB38 (P577293 ENSP000002436624) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157963, ENSP000002621604I2D: score=3 STRING: ENSP00000262160
    SMAD3P840223, ENSP000003329734I2D: score=3 STRING: ENSP00000332973
    SMAD1Q157973, ENSP000003057694I2D: score=3 STRING: ENSP00000305769
    BMPR1BO002383, ENSP000002645684I2D: score=3 STRING: ENSP00000264568
    SMAD4Q134853, ENSP000003415514I2D: score=3 STRING: ENSP00000341551
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process NAS10910072
    GO:0007264small GTPase mediated signal transduction NAS10910072
    GO:0015031protein transport NAS10910072
    GO:0090383phagosome acidification IMP--


    RAB38 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, 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 RAB38
    Search CenterWatch for drugs/clinical trials and news about RAB38 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, 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 RAB38 gene: 
    NM_022337.2  

    Unigene Cluster for RAB38:

    RAB38, member RAS oncogene family
    Hs.591975  [show with all ESTs]
    Unigene Representative Sequence: NM_022337
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000243662(uc001pcj.2) ENST00000531138 ENST00000526372

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    hsa-miR-30c hsa-miR-4307 hsa-miR-200a hsa-miR-30d hsa-miR-33a* hsa-miR-141 hsa-miR-4261 hsa-miR-30a
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    Additional cDNA sequence: 

    AF136172.1 AF235022.1 BC015808.1 BT009842.1 

    3 DOTS entries:

    DT.70103105  DT.91670331  DT.95372185 

    24/65 AceView cDNA sequences (see all 65):

    W94393 AI017581 CA443207 AL546159 BG260462 CR615812 AA164284 CA443345 
    N42447 AI765363 BE736962 AF235022 BQ233094 AI334984 CD365214 BG766060 
    AI354903 BC015808 AA885230 BE274396 BM972943 N20169 AW518279 BT009842 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RAB38    About this scheme

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


    ECgene alternative splicing isoforms for RAB38

    (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

    RAB38 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAATATATAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RAB38 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB38

    SOURCE GeneReport for Unigene cluster: Hs.591975

    UniProtKB/Swiss-Prot: RAB38_HUMAN, P57729
    Tissue specificity: Expressed in melanocytes

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    In Situ
    Assay Products:
     

     
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    (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.

    Orthologs for RAB38 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RAB381 RAB38, member RAS oncogene family 79.29(n)
    86.41(a)
      428095  XM_425653.2  XP_425653.2 
    lizard
    (Anolis carolinensis)
    Reptilia RAB386
    --
    79(a)
    1 ↔ 1
    3(199557000-199570080)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC053811.12   -- 77.48(n)    BC053811.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rab38a1 RAB38a, member RAS oncogene family 74.13(n)
    78.57(a)
      100003274  XM_001342839.2  XP_001342875.2 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    44(a)
    possible ortholog
    GroupUn.70(7198-10407)
    worm
    (Caenorhabditis elegans)
    Secernentea glo-16
    Gut granule LOss family member (glo-1)
    45(a)
    possible ortholog
    X(9872852-9882156)


    ENSEMBL Gene Tree for RAB38 (if available)
    TreeFam Gene Tree for RAB38 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB38 gene
    RAB9A2  RAB7A2  RAB9B2  RAB322  RAB7L12  
    18/61 SIMAP similar genes for RAB38 using alignment to 3 protein entries:     RAB38_HUMAN (see all proteins) (see all similar genes):
    RAB32    RAB6A'    RAB7L1    RAB11A    RAB7A    RAB34
    RANP1    RAB6A    RAB8B    RAB19    RAB11B    RAB13
    RAB25    RAB28    RAB6B    RAB43    RAB18    RAB1A

    RAB38 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RAB38
    PGOHUM00000237033 PGOHUM00000237035


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1156 NCBI SNPs in RAB38 are shown (see all 1156    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112943771,2
    C,--84142000(+) CTGCA-/TTTTTA 1 -- int10--------
    rs577036991,2
    --87845935(+) GACTCC/TGTCTC 1 -- int10--------
    rs2013707281,2
    --87845960(+) CAACA-/AAAT  
            
    ATATA
    1 -- int10--------
    rs1438198171,2
    --87845961(+) ACAAA-/ATATATA 1 -- int10--------
    rs1929907111,2
    C,--87845975(+) CATATA/C/G/
            
    TATAT
    1 -- int10--------
    rs355512361,2
    C--87845979(-) TATACAT/-ATATA 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1851064441,2
    --87846111(+) TATTGC/TTTCTT 1 -- int10--------
    rs1484797551,2
    --87846127(+) GTTGAC/TTGATC 1 -- int10--------
    rs1903473051,2
    --87846131(+) ATTGAC/TCTGGC 1 -- int10--------
    rs1819799821,2
    --87846205(+) CTGTAC/TACTCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for RAB38 (87846431 - 87908635 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RAB38
         1 CNV: 61168

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAB38
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB38

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

    RAB38 for disorders           About GeneDecksing

    OMIM gene information: 606281    OMIM disorders: --

    6 diseases for RAB38:    About MalaCards
    platelet storage pool deficiency    hermansky-pudlak syndrome    oculocutaneous albinism    melanoma
    albinism    multiple sclerosis

    3 diseases from the University of Copenhagen DISEASES database for RAB38:
    Hermansky-Pudlak syndrome     Oculocutaneous albinism     Platelet storage pool deficiency

    1 Novoseek disease relationship for RAB38 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    albinism oculocutaneous 92.7 1 18413250 (1)

    Human Genome Epidemiology (HuGE) Navigator: RAB38 (1 document)

    Export disorders for RAB38 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)
    About This Section

    PubMed articles for RAB38 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with RAB38)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Serological cloning of a melanocyte rab guanosine 5'-triphosphate- binding protein and a chromosome condensation protein from a melanoma complementary DNA library. (PubMed id 10910072)1, 2, 3, 9 Jaeger D.... Chen Y.-T. (2000)
    2. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    3. 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)
    4. Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PubMed id 12643545)1, 2 Basrur V.... Appella E. (2003)
    5. Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA. (PubMed id 12850305)1, 9 Suzuki T....Tomita Y. (2003)
    6. BLOC-2, AP-3, and AP-1 proteins function in concert wi th Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related o rganelles. (PubMed id 22511774)1 Bultema J.J....Di Pietro S.M. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PubMed id 21255211)2 Seto S.... Koide Y. (2011)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23682 HGNC: 9776 AceView: RAB38 Ensembl:ENSG00000123892 euGenes: HUgn23682
    ECgene: RAB38 H-InvDB: RAB38

    (According to HUGE)
    About This Section
      --

    (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 RAB38 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB38 Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/rab38/

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAB38 gene:
    Search GeneIP for patents involving RAB38

    GeneCards and IP:
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