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RABL2A Gene

protein-coding   GIFtS: 48
GCID: GC02P114384

RAB, Member Of RAS Oncogene Family-Like 2A

  Search for RABL2A
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
RAB, Member Of RAS Oncogene Family-Like 2A1 2
Rab-Like Protein 2A2

External Ids:    HGNC: 97991   Entrez Gene: 111592   Ensembl: ENSG000001441347   OMIM: 6054125   UniProtKB: Q9UBK73   

Export aliases for RABL2A gene to outside databases

Previous GC identifers: GC02P111590 GC02P112305 GC02P114291 GC02P114479 GC02P114480 GC02P114101 GC02P106705


(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 RABL2A Gene:
This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the
family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the
regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion
event and may be a subtelomeric gene. Two alternatively spliced transcript variants have been identified, both
encoding the same protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for RABL2A Gene:
RABL2A (RAB, member of RAS oncogene family-like 2A) is a protein-coding gene. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RABL2B.

UniProtKB/Swiss-Prot: RBL2A_HUMAN, Q9UBK7
Function: Plays an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. Binds, in
a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia
development and function and delivers them into the growing sperm tail (By similarity)




(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:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RABL2A gene promoter:
         GR   RFX1   HOXA3   AML1a   GR-beta   MyoD   POU3F2   STAT3   GR-alpha   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RABL2A promoter sequence
   Search Chromatin IP Primers for RABL2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RABL2A


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

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q13

RABL2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RABL2A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P114384:  view genomic region     (about GC identifiers)

Start:
114,384,806 bp from pter      End:
114,400,975 bp from pter
Size:
16,170 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: RBL2A_HUMAN, Q9UBK7 (See protein sequence)
Recommended Name: Rab-like protein 2A  
Size: 228 amino acids; 26115 Da
Subunit: Interacts with ITF27, ITF81, ITF172, ATP6V1E1, HK1, LDHC, MAPRE1 and HSPA2 (By similarity)
Secondary accessions: B7ZBD6 Q9NU37
Alternative splicing: 3 isoforms:  Q9UBK7-1   Q9UBK7-2   Q9UBK7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RABL2A: NX_Q9UBK7

Explore proteomics data for RABL2A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys150
  • Modification sites at PhosphoSitePlus

  • See RABL2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_009013.1  NP_038198.1  

    ENSEMBL proteins: 
     ENSP00000376872   ENSP00000386460   ENSP00000388944   ENSP00000376870   ENSP00000399360  
     ENSP00000415510   ENSP00000376871   ENSP00000387229   ENSP00000365622  

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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

    3 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9UBK7

    ProtoNet protein and cluster: Q9UBK7

    1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RBL2A_HUMAN, Q9UBK7
    Similarity: Belongs to the small GTPase superfamily. Rab family


    Find genes that share domains with RABL2A           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: RBL2A_HUMAN, Q9UBK7
    Function: Plays an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. Binds, in
    a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia
    development and function and delivers them into the growing sperm tail (By similarity)

         Genatlas biochemistry entry for RABL2A:
    RAB like gene 2A,ubiquitously expressed

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS10444334
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with RABL2A           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rabl2):
     endocrine/exocrine gland  reproductive system 

    Find genes that share phenotypes with RABL2A           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RABL2A
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0016020membrane ----

    Find genes that share ontologies with RABL2A           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RABL2A
    Interactions:

        Search GeneGlobe Interaction Network for RABL2A

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

    Selected Interacting proteins for RABL2A (ENSP000003768714) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PI4KBENSP000002716574STRING: ENSP00000271657
    RABAC1ENSP000002220084STRING: ENSP00000222008
    TRAPPC10ENSP000002915744STRING: ENSP00000291574
    TRAPPC9ENSP000003739794STRING: ENSP00000373979
    YIF1AENSP000003660984STRING: ENSP00000366098
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    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process TAS10444334
    GO:0006886intracellular protein transport ----
    GO:0006913nucleocytoplasmic transport ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction IEA--

    Find genes that share ontologies with RABL2A           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 RABL2A (RBL2A)



    (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 RABL2A gene (2 alternative transcripts): 
    NM_007082.3  NM_013412.2  

    Unigene Cluster for RABL2A:

    RAB, member of RAS oncogene family-like 2A
    Hs.446425  [show with all ESTs]
    Unigene Representative Sequence: AK092971
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393167(uc002tkn.4 uc010flb.3 uc002tks.4 uc002tkr.3 uc002tkp.4)
    ENST00000409842(uc002tkm.4) ENST00000413545 ENST00000393165 ENST00000450954
    ENST00000467600 ENST00000452831 ENST00000465711 ENST00000393166 ENST00000409875
    ENST00000409121 ENST00000493876 ENST00000476236(uc002tkq.3) ENST00000477218
    ENST00000478880 ENST00000494909 ENST00000486403 ENST00000376439
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    Additional mRNA sequence: 

    AF095350.1 AF095351.1 AK092971.1 AK289496.1 AL137649.1 BC062578.1 BC111008.1 BC126129.1 
    BC144050.1 BC144052.1 CR456554.1 

    Selected DOTS entries (see all 28):

    DT.95202317  DT.100776905  DT.92367999  DT.97784600  DT.91816063  DT.120990792  DT.97819884  DT.120643102 
    DT.100811984  DT.120990788  DT.120990801  DT.70104758  DT.100778620  DT.416812  DT.95070954  DT.120643086 
    DT.120643104  DT.120990781  DT.120990811  DT.75155549  DT.92006734  DT.92007456  DT.92415339  DT.100767075 

    Selected AceView cDNA sequences (see all 147):

    AI867570 BQ100932 CA427898 BM692041 CR624145 BX103967 AI801833 BU630717 
    AI564658 BG910825 BX407243 AK097166 BV197645 AW964587 AI278770 BU171013 
    NM_013412 NM_007082 BI490049 CB528348 BX421088 AF095350 BV197506 AL043734 

    GeneLoc Exon Structure


    (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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    RABL2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCCCAGGA
    RABL2A Expression
    About this image

    RABL2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RABL2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.446425

    UniProtKB/Swiss-Prot: RBL2A_HUMAN, Q9UBK7
    Tissue specificity: Expressed in the testis

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RABL2A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rabl21 , 5 RAB, member of RAS oncogene family-like 21, 5 86.52(n)1
    83.64(a)1
      15 (44.96 cM)5
    687081  NM_026817.31  NP_081093.21 
     895825335 
    chicken
    (Gallus gallus)
    Aves RABL2B6
    Gallus gallus RAB, member of RAS oncogene family-l...
    75(a)
    1 → many
    1(106372-111774)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    80(a)
    1 → many
    GL343765.1(55659-70125)
    zebrafish
    (Danio rerio)
    Actinopterygii rabl26
    RAB, member of RAS oncogene family-like 2
    73(a)
    1 → many
    18(7102776-7112095) ENSDARG00000063321
    fruit fly
    (Drosophila melanogaster)
    Insecta RabX66
    RabX6
    23(a)
    1 → many
    3L(690517-691951)


    ENSEMBL Gene Tree for RABL2A (if available)
    TreeFam Gene Tree for RABL2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RABL2A gene
    RABL2B2  RAB9A2  RAB7A2  RAB9B2  RAB322  RAB7L12  RAB382  
    Selected SIMAP similar genes for RABL2A using alignment to 7 protein entries:     RBL2A_HUMAN (see all proteins) (see all similar genes):
    RABL2B    DKFZp686J06205    RAB4B    RAB11A    RALA    RAB15
    DKFZp686J07132    RAB8B    RAB30    RALB    rab1b    RAB6A
    RAB35    RAB26    RAB11B    RANP1    TC4    RAB37

    Find genes that share paralogs with RABL2A           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 RABL2A (see all 273)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1383127221,2
    C--114386730(+) ACTGG-/CTTCTTCT 2 -- int10--------
    rs1835174541,2
    C--114386751(+) ATTTCA/GGTGCC 2 -- int10--------
    rs1867019711,2
    C--114386793(+) CTGCCA/GTGCTG 2 -- int10--------
    rs1916070081,2
    --114386852(+) AGGGCA/CCATGT 2 -- int10--------
    rs1418813031,2
    C--114387055(+) CTCTG-/TCTCTCT 2 -- int10--------
    rs1841654941,2
    --114387068(+) TCTCTC/GTCTCT 2 -- int10--------
    rs1148404711,2
    F--114387074(+) TCTCTT/CCCCCA 2 -- int11Minor allele frequency- C:0.09WA 118
    rs16653021,2
    C,A--114387185(-) GCAGTA/GAGCCG 2 -- int10--------
    rs16653011,2
    C,A--114387249(-) CTGTAA/GTCCTA 2 -- int10--------
    rs17395091,2
    C,A--114387358(+) GATCCA/GCCCAC 2 -- int10--------

    HapMap Linkage Disequilibrium report for RABL2A (114384806 - 114400975 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RABL2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508163CNV Loss20534489
    esv380CNV CNV17122850
    essv901CNV CNV17122850

    Site Specific Mutation Identification with PCR Assays
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    (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: 605412    OMIM disorders: --


    Find genes that share disorders with RABL2A           About GenesLikeMe


    Export disorders for RABL2A 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 RABL2A gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with RABL2A)
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    1. Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13. (PubMed id 10444334)1, 2, 3 Wong A.C....McDermid H.E. (Genomics 1999)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    4. RAB-like 2 has an essential role in male fertility, sperm intra- flagellar transport, and tail assembly. (PubMed id 23055941)2 Lo J.C.... O'Bryan M.K. (PLoS Genet. 2012)
    5. 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)
    6. Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing. (PubMed id 20138207)1 Kramer M....Huse K. (Gene 2010)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1 Collins J.E.... Dunham I. (Genome Biol. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11159 HGNC: 9799 AceView: RABL2A Ensembl:ENSG00000144134 euGenes: HUgn11159
    ECgene: RABL2A H-InvDB: RABL2A

    (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 RABL2A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RABL2A 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 RABL2A gene:
    Search GeneIP for patents involving RABL2A

    GeneCards and IP:
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