Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

MARVELD2 Gene

protein-coding   GIFtS: 52
GCID: GC05P068746

MARVEL Domain Containing 2

(Previous names: MARVEL (membrane-associating) domain containing 2, deafness,...)
(Previous symbols: MRVLDC2, DFNB49)
  See related diseases
at  

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

Aliases
MARVEL Domain Containing 21 2     TRIC3 5
DFNB491 2 5     Deafness, Autosomal Recessive 491
MRVLDC21 2     Tric2
MARVEL (Membrane-Associating) Domain Containing 21 2     MARVEL Domain-Containing Protein 22
tricellulin1 2     Tricellulin3
MARVD22 5     

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 Gene:
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)

GeneCards Summary for MARVELD2 Gene: 
MARVELD2 (MARVEL domain containing 2) is a protein-coding gene. Diseases associated with MARVELD2 include dfnb49 nonsyndromic hearing loss and deafness, and lymphogranuloma venereum. An important paralog of this gene is ELL3.

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 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006713.15  NC_018916.2  
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+,NW_003315917.2 198,535-225,032     

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

UniProtKB/Swiss-Prot: 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

Explore proteomics data for MARVELD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N4S9

  • MARVELD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MARVELD2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001033692.2  NP_001231663.1  

    ENSEMBL proteins: 
     ENSP00000323264   ENSP00000396244   ENSP00000421902   ENSP00000423490   ENSP00000414776  
     ENSP00000398922  

    Human Recombinant Protein Products for MARVELD2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MARVELD2
    OriGene Protein Over-expression Lysate for MARVELD2
    OriGene MassSpec for MARVELD2 
    OriGene Custom Protein Services for MARVELD2
    GenScript Custom Purified and Recombinant Proteins Services for MARVELD2
    Novus Biologicals MARVELD2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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



    MARVELD2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of MARVELD2
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MARVELD2
    GenScript Custom Superior Antibodies Services for MARVELD2
    Novus Biologicals MARVELD2 Antibodies
    Abcam antibodies for MARVELD2
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for MARVELD2
    LSBio Antibodies in human, mouse, rat for MARVELD2 

    Assay Products for MARVELD2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MARVELD2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MARVELD2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     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 domains:
    IPB008253 Marvel
    IPB010844 Occludin and RNA polymerase II elongation factor ELL


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


    MARVELD2 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MARVELD2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MARVELD2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MARVELD2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MARVELD2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MARVELD2
    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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MARVELD2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MARVELD2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MARVELD2
    Sirion Biotech Customized adenovirus for overexpression of MARVELD2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MARVELD2 (see all 10)
    OriGene ORF clones in mouse, rat for MARVELD2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MARVELD2 (NM_001038603)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MARVELD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MARVELD2
    Sirion Biotech Customized lentivirus for stable overexpression of MARVELD2 
                         Customized lentivirus expression plasmids for stable overexpression of MARVELD2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MARVELD2
    Search LifeMap BioReagents cell lines for MARVELD2
    In Situ Assay
    Products:
       

     
    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, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    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, Ligands according to IUPHAR, 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 (MALD2)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MARVELD2
    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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MARVELD2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MARVELD2
    Clone
    Products:
         
    OriGene clones in human, mouse for MARVELD2 (see all 10)
    OriGene ORF clones in mouse, rat for MARVELD2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MARVELD2 (NM_001038603)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MARVELD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MARVELD2
    Sirion Biotech Customized lentivirus for stable overexpression of MARVELD2 
                         Customized lentivirus expression plasmids for stable overexpression of MARVELD2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MARVELD2
    OriGene qSTAR qPCR primer pairs in human, mouse for MARVELD2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MARVELD2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MARVELD2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MARVELD2

    Additional mRNA 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):

    AA524190 CB069146 NM_144724 BF222447 AA902629 BQ023768 BC033689 CB069382 
    AK055094 AI288538 AI023974 BE549594 AA704297 BE090154 AI283471 AI052428 
    W44766 AI355645 R71698 BM766345 W38683 AW009562 BE081398 BM921318 

    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)      MARVELD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCAGCTCG
    MARVELD2 Expression
    About this image


    MARVELD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)
             Cerebellum
     
     Prostate (Endocrine System)

    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
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MARVELD2
    OriGene qSTAR qPCR primer pairs in human, mouse for MARVELD2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MARVELD2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MARVELD2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MARVELD2
    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 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Marveld21 , 5 MARVEL (membrane-associating) domain containing 21, 5 85.18(n)1
    88.38(a)1
      13 (53.23 cM)5
    2185181  NM_001038602.41  NP_001033691.11 
     1005959575 
    chicken
    (Gallus gallus)
    Aves MARVELD21 MARVEL domain containing 2 68.8(n)
    68.74(a)
      427393  XM_424965.3  XP_424965.3 
    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)
    5(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  OCEL12  ELL22  ELL2  
    1 SIMAP similar gene for MARVELD2 using alignment to 5 protein entries:     MALD2_HUMAN (see all proteins):
    OCEL1

    MARVELD2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/529 SNPs in MARVELD2 are shown (see all 529)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1182039571,2
    Cpathogenic168648466(+) AAAGCC/TGACAG 4 R * stg11Minor allele frequency- T:0.00EU 1323
    rs107065321,2
    C--65677484(+) AAAAA-/AGAAAT 2 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs113961931,2
    C--65677806(+) AATAC-/TTTTTT 2 -- int1 trp30--------
    rs1903159461,2
    --65677810(+) CTTTTG/TTTTTT 2 -- int10--------
    rs341036721,2
    C,F,H--65683916(+) TCTTCT/CTTTTT 2 -- int13Minor allele frequency- C:0.01NS NA 466
    rs669845231,2
    C--65688489(+) TGGGA-/ACAC  
            
    ACACA
    2 -- int10--------
    rs25837001,2
    C,A--65688534(+) acacaC/TaTATA 2 -- int11Minor allele frequency- T:0.00WA 2
    rs113158321,2
    C--65691160(+) AAAAA-/AGAAGA 2 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs1445766201,2
    C--68630779(+) GCGCAC/TCTCGG 2 -- int10--------
    rs2008731271,2
    C--68630897(+) GCCTA-/GCCGGC 2 -- int10--------

    HapMap Linkage Disequilibrium report for MARVELD2 (68710939 - 68740157 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MARVELD2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2730289CNV Deletion23290073
    esv2435100CNV Deletion19546169
    esv2030621CNV Deletion18987734
    nsv881767CNV Loss21882294
    nsv821643CNV Loss15273396
    nsv881768CNV Loss21882294
    esv9527CNV Loss19470904
    nsv428117CNV Gain+Loss18775914


    Human Gene Mutation Database (HGMD): MARVELD2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MARVELD2
    DNA2.0 Custom Variant and Variant Library Synthesis for MARVELD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610572   
    OMIM disorders: 610153  
    UniProtKB/Swiss-Prot: MALD2_HUMAN, Q8N4S9
  • Deafness, autosomal recessive, 49 (DFNB49) [MIM:610153]: A form of non-syndromic 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 17 diseases for MARVELD2:    About MalaCards
    dfnb49 nonsyndromic hearing loss and deafness    lymphogranuloma venereum    inclusion conjunctivitis    deafness, autosomal recessive 49
    ophthalmia neonatorum    salpingitis    trachoma    nonsyndromic hearing loss and deafness, autosomal recessive
    reactive arthritis    conjunctivitis    nonsyndromic deafness    urethritis
    papilloma    sensorineural hearing loss    choroiditis    arthritis
    pancreatitis

    2 diseases from the University of Copenhagen DISEASES database for MARVELD2:
    Nonsyndromic deafness     Hepatocellular fibrolamellar carcinoma

    MARVELD2 for disorders           About GeneDecksing


    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 41):
    (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. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. Differential phosphorylation of occludin and tricellu lin by CK2 and CK1. (PubMed id 19538290)1, 9 DAPrfel M.J....Huber O. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    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,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MARVELD2 gene:
    Search GeneIP for patents involving MARVELD2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of MARVELD2
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for MARVELD2  
     OriGene qPCR primer pairs and template standards for MARVELD2   OriGene Protein Over-expression Lysate for MARVELD2  
     OriGene MassSpec something-or-other for MARVELD2   OriGene clones in human, mouse for MARVELD2  
     OriGene qSTAR qPCR primer pairs in human, mouse for MARVELD2   OriGene Purified Protein for MARVELD2  
     OriGene ORF clones in mouse, rat for MARVELD2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MARVELD2   OriGene Custom Protein Services for MARVELD2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MARVELD2
     QIAGEN SeqTarget long-range PCR primers for resequencing MARVELD2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MARVELD2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MARVELD2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MARVELD2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MARVELD2
     GenScript Custom Purified and Recombinant Proteins Services for MARVELD2 GenScript cDNA clones with any tag delivered in your preferred vector for MARVELD2
     GenScript Custom Assay Services for MARVELD2 GenScript Custom Superior Antibodies Services for MARVELD2
     GenScript Custom overexpressing Cell Line Services for MARVELD2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in MARVELD2 promoter
     Search Chromatin IP Primers for MARVELD2
     RT2 qPCR Primer Assay in human, mouse, rat MARVELD2
     GNC Network for MARVELD2
     SABiosciences Custom PCR Arrays for MARVELD2
     Search Tocris compounds for MARVELD2 (MALD2)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     MARVELD2 antibodies
     MARVELD2 lysates
     Antibodies for MARVELD2
     See all of Abcam's Antibodies, Kits and Proteins for MARVELD2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for MARVELD2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MARVELD2
     SwitchGear 3'UTR luciferase reporter plasmids for MARVELD2
     SwitchGear Promoter luciferase reporter plasmids for MARVELD2
     ThermoFisher Antibodies for MARVELD2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MARVELD2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for MARVELD2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MARVELD2
    Customized:
     lentivirus for stable overexpression of MARVELD2
     lentivirus expression plasmids for stable overexpression of MARVELD2
     adenovirus for overexpression of MARVELD2
     LSBio Antibodies in human, mouse, rat for MARVELD2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MARVELD2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4