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

MARVELD2 Gene

protein-coding   GIFtS: 51
GCID: GC05P068746

MARVEL domain containing 2

(Previous names: MARVEL (membrane-associating) domain containing 2, deafness,...)
(Previous symbols: MRVLDC2, DFNB49)
 Explore 15 diseases affiliated with
MARVELD2 via our new
 Human Malady Compendium 
Biological research products
for MARVELD2
    

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

Aliases
MARVEL Domain Containing 21 2     FLJ305321
DFNB491 2 5     Deafness, Autosomal Recessive 491
TRIC1 3 5     Tric2
MRVLDC21 2     MARVEL Domain-Containing Protein 22
MARVEL (Membrane-Associating) Domain Containing 21 2     Tricellulin3
MARVD22 5     Tricellulin3

External Ids:    HGNC: 264011   Entrez Gene: 1535622   Ensembl: ENSG000001529397   OMIM: 6105725   UniProtKB: Q8N4S93   

Export aliases for MARVELD2 gene to outside databases

Previous GC identifer: GC05P065667


(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 MARVELD2:
The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The
encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are
required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Sep 2011)

UniProtKB/Swiss-Prot: MALD2_HUMAN, Q8N4S9
Function: Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and
perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing

Gene Wiki entry for MARVELD2


(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_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MARVELD2 gene promoter:
         HFH-1   FOXD1   IRF-7A   ARP-1   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMARVELD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MARVELD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MARVELD2


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

Entrez Gene cytogenetic band: 5q13.2   Ensembl cytogenetic band:  5q13.2   HGNC cytogenetic band: 5q13.1

MARVELD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MARVELD2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P068746:  view genomic region     (about GC identifiers)

Start:
68,710,939 bp from pter      End:
68,740,157 bp from pter
Size:
29,219 bases      Orientation:
plus strand

1 alternative location:
Chr5+,PATCHES 69,103,528-69,130,025     

(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: MALD2_HUMAN, Q8N4S9 (See protein sequence)
Recommended Name: MARVEL domain-containing protein 2  
Size: 558 amino acids; 64168 Da
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, tight junction (By similarity).
Note=Found at tricellular contacts (By similarity)
Secondary accessions: A1BQX0 A1BQX1 A8KA97 Q96NM9
Alternative splicing: 3 isoforms:  Q8N4S9-1   Q8N4S9-2   Q8N4S9-3   

Explore the universe of human proteins at neXtProt for MARVELD2: NX_Q8N4S9

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N4S9

  • MARVELD2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001033692.2  NP_001231663.1  

    ENSEMBL proteins: 
     ENSP00000323264   ENSP00000396244   ENSP00000421902   ENSP00000423490   ENSP00000414776  
     ENSP00000398922  

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    Uscn Proteins for MARVELD2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0005923tight junction IDA--
    GO:0016021integral to membrane IEA--
    GO:0033010paranodal junction IEA--
    GO:0043220Schmidt-Lanterman incisure IEA--


    MARVELD2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MARVELD2


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

    MARVELD2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR021128 MARVEL-like_dom
     IPR008253 Marvel
     IPR010844 Occludin_RNApol2_elong_fac_ELL

    Graphical View of Domain Structure for InterPro Entry Q8N4S9

    ProtoNet protein and cluster: Q8N4S9

    2 Blocks protein families:
    IPB008253 Marvel
    IPB010844 Occludin and RNA polymerase II elongation factor ELL


    UniProtKB/Swiss-Prot: MALD2_HUMAN, Q8N4S9
    Similarity: Contains 1 MARVEL domain


    (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: MALD2_HUMAN, Q8N4S9
    Function: Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and
    perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing

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    hsa-miR-140-3p hsa-miR-3671 hsa-miR-34b* hsa-miR-607 hsa-miR-103a-2* hsa-miR-3714 hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidMARVELD2 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MARVELD2


    (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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MARVELD2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for MARVELD2 (ENSP000003232644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IMP17186462
    GO:0045216cell-cell junction organization IMP--


    MARVELD2 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 MARVELD2
    Search CenterWatch for drugs/clinical trials and news about MARVELD2 / MALD2 

    (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 MARVELD2 gene (3 alternative transcripts): 
    NM_001038603.2  NM_001244734.1  NM_144724.1  

    Unigene Cluster for MARVELD2:

    MARVEL domain containing 2
    Hs.657687  [show with all ESTs]
    Unigene Representative Sequence: AK055094
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000325631(uc003jwq.3 uc010ixf.3) ENST00000454295 ENST00000515844
    ENST00000512803 ENST00000436532 ENST00000413223(uc003jws.1)

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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate MARVELD2:
    hsa-miR-140-3p hsa-miR-3671 hsa-miR-34b* hsa-miR-607 hsa-miR-103a-2* hsa-miR-3714 hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidMARVELD2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MARVELD2 (see all 7)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MARVELD2
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    Additional cDNA sequence: 

    AB219936.1 AB219937.1 AK055094.1 AK292962.1 BC033689.1 DQ682656.1 DQ682657.1 DQ682658.1 

    7 DOTS entries:

    DT.91756161  DT.109014  DT.406580  DT.120855077  DT.86858008  DT.92050085  DT.91994457 

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

    R71698 BF222447 W44766 BE549594 CB069382 BM766345 AI283471 BC033689 
    BQ023768 AK055094 NM_144724 AI355645 BE090154 AI023974 AI052428 CB069146 
    AA704297 W38683 AA902629 AI288538 AA524190 BF328502 BQ787868 AI684284 

    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™, 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

    MARVELD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGCAGCTCG

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

    About this image

    MARVELD2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal VesicleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MARVELD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MARVELD2

    SOURCE GeneReport for Unigene cluster: Hs.657687
        SABiosciences Custom PCR Arrays for MARVELD2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MARVELD2

    (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 MARVELD2 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MARVELD21 MARVEL domain containing 2 68.8(n)
    68.74(a)
      427393  XM_424965.3  XP_424965.3 
    lizard
    (Anolis carolinensis)
    Reptilia MARVELD26
    --
    67(a)
    1 ↔ 1
    2(17026349-17038005)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.68802 Transcribed sequence with weak similarity to protein more 77.94(n)    CF225406.1 
    zebrafish
    (Danio rerio)
    Actinopterygii marveld2a1 MARVEL domain containing 2a 64.11(n)
    61.88(a)
      558720  XM_681976.3  XP_687068.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Su(Tpl)6
    Su(Tpl)
    7(a)
    1 → many
    3L(19882220-19902510)


    ENSEMBL Gene Tree for MARVELD2 (if available)
    TreeFam Gene Tree for MARVELD2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MARVELD2 gene
    ELL32  OCLN2  OCEL12  ELL22  ELL2  
    1 SIMAP similar gene for MARVELD2 using alignment to 8 protein entries:     MALD2_HUMAN (see all proteins):
    OCEL1

    MARVELD2 for paralogs           About GeneDecksing



    (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

    10/414 NCBI SNPs in MARVELD2 are shown (see all 414    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs722835481,2
    C--65681934(+) GTATC-/AAAAAAAA 2 -- int10--------
    rs717682651,2
    C--65685549(+) CTGGCT/-TTTTT 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs113158321,2
    C--65691142(+) AAAAA-/AGAAGA 2 -- int1 trp30--------
    rs1445766201,2
    --68711226(+) GCGCAC/TCTCGG 2 -- int10--------
    rs2008731271,2
    C,--68711344(+) GCCTA-/GCCGGC 2 -- int10--------
    rs758649551,2
    --68711446(+) CCCGGA/GCAGTC 2 -- int10--------
    rs1415927511,2
    --68711592(+) GGCATC/GATTCC 2 -- int10--------
    rs755210401,2
    F,--68711631(+) TCCTGC/GCATTG 2 -- int11Minor allele frequency- G:0.09WA 118
    rs731130951,2
    C,--68711929(+) TAAATC/TCATTA 2 -- int12Minor allele frequency- T:0.05WA 120
    rs1123576651,2
    C,--68712062(+) AAAACTA/-GAGTC 2 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for MARVELD2 (68710939 - 68740157 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for MARVELD2
         2 CNVs: 99169 0283
         2 Indels: 62384 46913
    Human Gene Mutation Database (HGMD): MARVELD2

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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.)
    About This Section

    MARVELD2 for disorders           About GeneDecksing

    OMIM gene information: 610572   
    OMIM disorders: 610153  
    UniProtKB/Swiss-Prot: MALD2_HUMAN, Q8N4S9
  • Defects in MARVELD2 are the cause of deafness autosomal recessive type 49 (DFNB49) [MIM:610153]. DFNB49 is a
  • form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner
    ear, the nerve pathways to the brain, or the area of the brain that receives sound information

    15 diseases for MARVELD2:    About MalaCards
    deafness, autosomal recessive 49    lymphogranuloma venereum    ophthalmia neonatorum    nonsyndromic deafness
    inclusion conjunctivitis    salpingitis    reactive arthritis    trachoma
    conjunctivitis    urethritis    papilloma    choroiditis
    arthritis    pancreatitis    carcinoma

    5 diseases from the University of Copenhagen DISEASES database for MARVELD2:
    Inclusion conjunctivitis     Trachoma     Lymphogranuloma venereum     Urethritis
    Conjunctivitis

    Export disorders for MARVELD2 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 MARVELD2 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with MARVELD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tricellulin is a tight-junction protein necessary for hearing. (PubMed id 17186462)1, 2, 3, 9 Riazuddin S.... Friedman T.B. (2006)
    2. Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells. (PubMed id 16365161)1, 2, 9 Ikenouchi J.... Tsukita S. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. Tight junction-associated MARVEL proteins marveld3, t ricellulin, and occludin have distinct but overlapping functions. (PubMed id 20164257)1, 9 Raleigh D.R....Turner J.R. (2010)
    6. Tricellulin forms a barrier to macromolecules in tric ellular tight junctions without affecting ion permeability. (PubMed id 19535456)1, 9 Krug S.M....Fromm M. (2009)
    7. Expression and localization of tricellulin in human n asal epithelial cells in vivo and in vitro. (PubMed id 20033365)1, 9 Ohkuni T....Sawada N. (2009)
    8. Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. (PubMed id 18084694)1, 9 Chishti M.S....Ahmad W. (2008)
    9. Differential phosphorylation of occludin and tricellu lin by CK2 and CK1. (PubMed id 19538290)1, 9 DAPrfel M.J....Huber O. (2009)
    10. Tricellulin expression in normal and neoplastic human pancreas. (PubMed id 22394074)1 Korompay A....Kiss A. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 153562 HGNC: 26401 AceView: MARVELD2 Ensembl:ENSG00000152939 euGenes: HUgn153562
    ECgene: MARVELD2 H-InvDB: MARVELD2

    (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 MARVELD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MARVELD2 gene:
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