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

MRAP Gene

protein-coding   GIFtS: 49
GCID: GC21P033664

melanocortin 2 receptor accessory protein

(Previous name: chromosome 21 open reading frame 61 )
(Previous symbol: C21orf61)
 Explore 22 diseases affiliated with
MRAP via our new
 Human Malady Compendium 
Biological research products
for MRAP
    

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

Aliases
Melanocortin 2 Receptor Accessory Protein1 2     Fat Tissue-Specific Low MW Protein2 3
C21orf611 2 3 5     FGD22 5
FALP1 2 3 5     GCCD22 5
B271 2 3     Chromosome 21 Open Reading Frame 611
Fat Cell-Specific Low Molecular Weight Protein2 3     Melanocortin-2 Receptor Accessory Protein2

External Ids:    HGNC: 13041   Entrez Gene: 562462   Ensembl: ENSG000001702627   OMIM: 6091965   UniProtKB: Q8TCY53   

Export aliases for MRAP gene to outside databases

Previous GC identifers: GC21P032586 GC21P019073


(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 MRAP:
This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function
of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other
melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2.
Alternatively spliced transcript variants have been described. (provided by RefSeq, Dec 2009)

UniProtKB/Swiss-Prot: MRAP_HUMAN, Q8TCY5
Function: Required for MC2R expression in certain cell types, suggesting that it is involved in the processing,
trafficking or function of MC2R. May be involved in the intracellular trafficking pathways in adipocyte cells




(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_000021.8  NC_018932.1  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRAP gene promoter:
         E2F-3a   E2F-4   STAT1   E2F-5   E2F-2   C/EBPalpha   E2F-1   E2F   HSF2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRAP promoter sequence
   Search SABiosciences Chromatin IP Primers for MRAP

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


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

Entrez Gene cytogenetic band: 21q22.1   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1

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

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P033664:  view genomic region     (about GC identifiers)

Start:
33,664,124 bp from pter      End:
33,687,095 bp from pter
Size:
22,972 bases      Orientation:
plus 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: MRAP_HUMAN, Q8TCY5 (See protein sequence)
Recommended Name: Melanocortin-2 receptor accessory protein  
Size: 172 amino acids; 19136 Da
Subunit: Interacts with MC2R
Subcellular location: Cytoplasm, perinuclear region. Cytoplasm (By similarity). Cell membrane. Endoplasmic reticulum.
Note=Concentrated at the perinuclear membrane region. Upon insulin stimulation, it is redistributed into spotty
structures throughout the cytoplasm (By similarity). Localizes both to plasma membrane and endoplasmic reticulum
Secondary accessions: Q5EBR3 Q8TDB7 Q8WXC1 Q8WXC2
Alternative splicing: 4 isoforms:  Q8TCY5-4   Q8TCY5-1   Q8TCY5-2   Q8TCY5-3   

Explore the universe of human proteins at neXtProt for MRAP: NX_Q8TCY5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TCY5

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_848932.1  NP_996781.1  

    ENSEMBL proteins: 
     ENSP00000382684   ENSP00000306697   ENSP00000343661   ENSP00000382686  

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    Uscn Proteins for MRAP

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA19329486
    GO:0005886plasma membrane IDA19329486
    GO:0016021integral to membrane IEA--
    GO:0048471perinuclear region of cytoplasm IEA--


    MRAP 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

    ProtoNet protein and cluster: Q8TCY5


    (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: MRAP_HUMAN, Q8TCY5
    Function: Required for MC2R expression in certain cell types, suggesting that it is involved in the processing,
    trafficking or function of MC2R. May be involved in the intracellular trafficking pathways in adipocyte cells

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRAP

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031780corticotropin hormone receptor binding IPI19329486
    GO:0031781type 3 melanocortin receptor binding IPI19329486
    GO:0031782type 4 melanocortin receptor binding IPI19329486
    GO:0031783type 5 melanocortin receptor binding IPI19329486
    GO:0070996type 1 melanocortin receptor binding IPI19329486


    MRAP for ontologies           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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MRAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for MRAP (Q8TCY53 ENSP000003066974) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MGRN1O602913, ENSP000002623704I2D: score=1 STRING: ENSP00000262370
    MC2RQ017183, ENSP000003338214I2D: score=2 STRING: ENSP00000333821
    ENSG00000258947ENSP000003202954STRING: ENSP00000320295
    MC3RENSP000002439114STRING: ENSP00000243911
    MC4RENSP000002997664STRING: ENSP00000299766
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030819positive regulation of cAMP biosynthetic process IDA19329486
    GO:0034394protein localization to cell surface IDA19329486
    GO:0050873brown fat cell differentiation IEA--


    MRAP 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

    MRAP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MRAP
    1 Novoseek chemical compound relationship for MRAP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acth 84.7 33 17456795 (3), 18426811 (2), 20371771 (2), 18981183 (2) (see all 16)

    Search CenterWatch for drugs/clinical trials and news about MRAP 

    (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 MRAP gene (2 alternative transcripts): 
    NM_178817.3  NM_206898.1  

    Unigene Cluster for MRAP:

    Melanocortin 2 receptor accessory protein
    Hs.584940  [show with all ESTs]
    Unigene Representative Sequence: NM_178817
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399784(uc002ypj.3) ENST00000497833(uc011ado.2) ENST00000303645(uc002ypl.3)
    ENST00000339944 ENST00000399786(uc002ypk.3)

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF454915.1 AF454916.1 AF483549.1 AY079152.1 BC062721.1 

    4 DOTS entries:

    DT.92042754  DT.100742365  DT.121138523  DT.100682870 

    14 AceView cDNA sequences:

    AI022711 AW449617 AY079152 AF483549 AW105180 BC062721 AI742243 CD104898 
    NM_178817 CB986525 AF454916 AF454915 BX281553 NM_206898 

    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

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

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

    About this image

    MRAP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    OvaryPrimary FollicleGranulosa CellsOvary
    AdiposeVisceral White AdiposeAdipose
    LungTracheaLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

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

    SOURCE GeneReport for Unigene cluster: Hs.584940

    UniProtKB/Swiss-Prot: MRAP_HUMAN, Q8TCY5
    Tissue specificity: Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in
    adipose tissues

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    In Situ
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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 chordates.

    Orthologs for MRAP gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrap1 , 5 melanocortin 2 receptor accessory protein1, 5 79.77(n)1
    70.09(a)1
      16 (51.90 cM)5
    770371  NM_029844.31  NP_084120.11 
     907383245 
    zebrafish
    (Danio rerio)
    Actinopterygii mrap6
    melanocortin 2 receptor accessory protein
    33(a)
    1 ↔ 1
    15(5467530-5469619)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/421 NCBI SNPs in MRAP are shown (see all 421    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1407060601,2
    --33662276(+) ATATAG/TTCCAC 2 -- us2k10--------
    rs1807661981,2
    --33662291(+) ATATAG/TTCCAC 2 -- us2k10--------
    rs2016991471,2
    --33662297(+) TCCAC-/ATATATA 2 -- us2k10--------
    rs1850145121,2
    --33662308(+) ATATAG/TTCCAC 2 -- us2k10--------
    rs1898190471,2
    --33662356(+) TATAGG/TCCACA 2 -- us2k10--------
    rs347713221,2
    C,--33662377(+) CCACAC/TATATA 2 -- us2k11Minor allele frequency- T:0.50NA 2
    rs39891901,2
    C--33662392(+) atata-/TAgtcca 2 -- us2k11Minor allele frequency- TA:0.00NA 2
    rs1825147601,2
    --33662450(+) CATATA/GTATAT 2 -- us2k10--------
    rs2003298071,2
    --33662455(+) ATATA-/TCTTCCA 2 -- us2k10--------
    rs1871638901,2
    --33662456(+) TATATA/CTTCCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MRAP (33664124 - 33687095 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MRAP
         1 Indel: 73626
    Human Gene Mutation Database (HGMD): MRAP

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRAP
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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

    MRAP for disorders           About GeneDecksing

    OMIM gene information: 609196   
    OMIM disorders: 607398  
    UniProtKB/Swiss-Prot: MRAP_HUMAN, Q8TCY5
  • Defects in MRAP are the cause of glucocorticoid deficiency type 2 (GCCD2) [MIM:607398]; also known as familial
  • glucocorticoid deficiency type 2 (FGD2). GCCD2 is an autosomal recessive disorder due to congenital insensitivity or
    resistance to adrenocorticotropin (ACTH). It is characterized by progressive primary adrenal insufficiency, without
    mineralocorticoid deficiency

    20/22 diseases for MRAP (see all 22):    About MalaCards
    glucocorticoid deficiency    familial glucocorticoid deficiency    lipoid congenital adrenal hyperplasia    hypersensitivity reaction type ii disease
    glucocorticoid deficiency 2    adrenal hyperplasia    enthesopathy    ankylosing spondylitis
    iritis    whipple disease    reactive arthritis    psoriatic arthritis
    addison's disease    spondylitis    urethritis    arthropathy
    down syndrome    synovitis    uveitis    arthritis

    9 diseases from the University of Copenhagen DISEASES database for MRAP:
    Ankylosing spondylitis     Arthropathy     Arthritis     Uveitis
    Psoriatic arthritis     Psoriasis     Iritis     Connective tissue disease
    Inflammatory bowel disease
    Human Genome Epidemiology (HuGE) Navigator: MRAP (23 documents)

    Export disorders for MRAP 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 MRAP gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with MRAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. (PubMed id 15654338)1, 2, 3, 9 Metherell L.A.... Clark A.J.L. (2005)
    2. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. (PubMed id 12036298)1, 2, 3 Gardiner K....Davisson M. (2002)
    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. Identification of novel putative membrane proteins selectively expressed during adipose conversion of 3T3-L1 cells. (PubMed id 12054497)1, 2 Xu A....Cooper G.J.S. (2002)
    5. Melanocortin-2 receptor accessory protein MRAP forms antiparallel homodimers. (PubMed id 18077336)1, 9 Sebag J.A. and Hinkle P.M. (2007)
    6. Regions of melanocortin 2 (MC2) receptor accessory protein necessary for dual topology and MC2 receptor trafficking and signaling. (PubMed id 18981183)1, 9 Sebag J.A. and Hinkle P.M. (2009)
    7. Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking. (PubMed id 18818285)1, 9 Webb T.R....Clark A.J. (2009)
    8. Differential regulation of the human adrenocorticotropin receptor [melanocortin-2 receptor (MC2R)] by human MC2R accessory protein isoforms alpha and beta in isogenic human embryonic kidney 293 cells. (PubMed id 17456795)1, 9 Roy S....Gallo-Payet N. (2007)
    9. Isolated Addison's disease is unlikely to be caused b y mutations in MC2R, MRAP or STAR, three genes responsible for familial glucoco rticoid deficiency. (PubMed id 19903795)1, 9 Dias R.P....Clark A.J. (2010)
    10. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. (PubMed id 19558534)1, 9 Chung T.T....Clark A.J. (2010)

    (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)
    About This Section
    Entrez Gene: 56246 HGNC: 1304 AceView: C21orf61 Ensembl:ENSG00000170262 euGenes: HUgn56246
    ECgene: MRAP H-InvDB: MRAP

    (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 MRAP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MRAP

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MRAP gene:
    Search GeneIP for patents involving MRAP

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



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