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

CDHR5 Gene

protein-coding   GIFtS: 48
GCID: GC11M000618

cadherin-related family member 5

(Previous names: mucin and cadherin-like, mucin-like protocadherin )
(Previous symbols: MUCDHL, MUPCDH)
  Search for CDHR5
in our new
 Human Malady Compendium 
Biological research products
for CDHR5
    

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

Aliases
Cadherin-Related Family Member 51 2     FLJ202191
MUCDHL1 2 3 5     Mucin And Cadherin-Like1
MUPCDH1 2 3     Mucin-Like Protocadherin1
MU-PCDH1 2     Mu-Protocadherin1
Mucin And Cadherin-Like Protein2 3     Mu-Protocadherin1

External Ids:    HGNC: 75211   Entrez Gene: 538412   Ensembl: ENSG000000998347   OMIM: 6068395   UniProtKB: Q9HBB83   

Export aliases for CDHR5 gene to outside databases

Previous GC identifer: GC11M000435


(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 CDHR5:
This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem
repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding
calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function
of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms
have been described. (provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: CDHR5_HUMAN, Q9HBB8
Function: Acts as a calcium-dependent cell adhesion protein (By similarity)

Gene Wiki entry for CDHR5 (MUPCDH)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CDHR5
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CDHR5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CDHR5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDHR5


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

CDHR5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDHR5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M000618:  view genomic region     (about GC identifiers)

Start:
616,565 bp from pter      End:
626,078 bp from pter
Size:
9,514 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: CDHR5_HUMAN, Q9HBB8 (See protein sequence)
Recommended Name: Cadherin-related family member 5 precursor  
Size: 845 amino acids; 88223 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein (Potential)
Sequence caution: Sequence=AAG16730.1; Type=Erroneous gene model prediction; Sequence=AAG16732.1; Type=Miscellaneous
discrepancy; Note=Aberrant splicing; Sequence=BAA91021.1; Type=Erroneous initiation; Note=Translation N-terminally
extended; Sequence=BAA91021.1; Type=Frameshift; Positions=763; Sequence=BAA91021.1; Type=Miscellaneous discrepancy;
Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=BAB15052.1; Type=Frameshift;
Positions=458;
Secondary accessions: C9J7X1 Q9H746 Q9HAU3 Q9HBB5 Q9HBB6 Q9HBB7 Q9NX86 Q9NXI9
Alternative splicing: 3 isoforms:  Q9HBB8-1   Q9HBB8-2   Q9HBB8-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CDHR5: NX_Q9HBB8

Post-translational modifications:

  • N- and O-glycosylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HBB8

  • CDHR5 Protein expression data from MOPED and PaxDb:    About this image 
    CDHR5 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001165439.1  NP_068743.2  NP_112554.2  

    ENSEMBL proteins: 
     ENSP00000351118   ENSP00000437255   ENSP00000345726   ENSP00000435082   ENSP00000436295  
     ENSP00000431505   ENSP00000380676  

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    Uscn Proteins for CDHR5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0005905coated pit ----
    GO:0016020membrane NAS--
    GO:0016021integral to membrane IEA--

    CDHR5 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

    CDHR5 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR015919 Cadherin-like
     IPR020894 Cadherin_CS
     IPR002126 Cadherin

    Graphical View of Domain Structure for InterPro Entry Q9HBB8

    ProtoNet protein and cluster: Q9HBB8

    1 Blocks protein family: IPB002126 Cadherin

    UniProtKB/Swiss-Prot: CDHR5_HUMAN, Q9HBB8
    Similarity: Contains 4 cadherin domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CDHR5_HUMAN, Q9HBB8
    Function: Acts as a calcium-dependent cell adhesion protein (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ISS--
         
    CDHR5 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Cdhr5 (no phenotypes)

    CDHR5 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Cdhr5tm1Lex for CDHR5
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CDHR5 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDHR5


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CDHR5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion ISS--
    GO:0007156homophilic cell adhesion IEA--
    GO:0016339calcium-dependent cell-cell adhesion NAS--

    CDHR5 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 CDHR5

    1 HMDB Compound for CDHR5    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about CDHR5 

    (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, Sirion Biotech, 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 CDHR5 gene (5 alternative transcripts): 
    NM_001171968.1  NM_021924.4  NM_031264.3  NM_017717.3  NM_031265.1  

    Unigene Cluster for CDHR5:

    Cadherin-related family member 5
    Hs.165619  [show with all ESTs]
    Unigene Representative Sequence: NM_021924
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358353(uc001lql.3 uc001lqn.1) ENST00000531177 ENST00000349570(uc001lqm.2 uc009yce.1)
    ENST00000531899 ENST00000532949 ENST00000526077 ENST00000534311 ENST00000531088
    ENST00000529337 ENST00000397542(uc001lqj.3 uc009ycd.3 uc001lqk.3 uc009ycc.3)


    miRNA
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AF258675.1 AF258676.1 AF258677.1 AF258678.1 AF258679.1 AF276242.1 AF301909.1 AK000226.1 
    AK000384.1 AK025012.1 AK300991.1 AK308040.1 AK309157.1 AY358368.1 BC038405.1 BC107063.2 

    11 DOTS entries:

    DT.91696630  DT.91696627  DT.95342601  DT.100750101  DT.101965242  DT.120714159  DT.95342616  DT.100750100 
    DT.95286149  DT.95231123  DT.97805750 

    24/69 AceView cDNA sequences (see all 69):

    AI948684 BC038405 AW026011 AK025012 AI762251 NM_031264 AI215163 AF258677 
    AY358368 AI222484 AI640262 AI867211 AF276242 BI760402 AF301909 BM726572 
    AF258679 AK000226 AW137262 NM_017717 AF258676 AF258675 AF258678 AW001381 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CDHR5 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
    SP1:                                                  -                                               -                                                         
    SP2:                                                                                                  -                                                         
    SP3:                                                  -                                               -                                               -         
    SP4:                                      -           -                                                                                                         
    SP5:                                                  -           -                                                                                             

    ExUns: 17
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CDHR5

    (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

    CDHR5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCAGAACCA
    CDHR5 Expression
    About this image
    See CDHR5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDHR5

    SOURCE GeneReport for Unigene cluster: Hs.165619

    UniProtKB/Swiss-Prot: CDHR5_HUMAN, Q9HBB8
    Tissue specificity: Highest expression in kidney, liver, colon and small intestine. In kidney, expressed apically along
    brush border of proximal convoluted tubule but not in cortical collecting ducts. Isoform 1 is expressed primarily in
    adult small intestine and colon. Isoform 2 is highly expressed in fetal liver

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDHR5

    (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 CDHR5 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdhr51 , 5 cadherin-related family member 51, 5 72(n)1
    63.76(a)1
      7 (86.58 cM)5
    720401  NM_001114322.11  NP_001107794.11 
     1412690855 
    chicken
    (Gallus gallus)
    Aves CDHR51 cadherin-related family member 5 45.03(n)
    35.96(a)
      770055  XM_001233369.2  XP_001233370.1 
    lizard
    (Anolis carolinensis)
    Reptilia CDHR56
    --
    32(a)
    1 ↔ 1
    1(74333372-74364295)
    zebrafish
    (Danio rerio)
    Actinopterygii FP245455.16
    BX323820.16
    (see all 3)
    --
    30(a)
    23(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    25(5112912-5122669)
    4(18841912-18855790)


    ENSEMBL Gene Tree for CDHR5 (if available)
    TreeFam Gene Tree for CDHR5 (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

    10/280 NCBI SNPs in CDHR5 are shown (see all 280    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs71087571,2
    C,F--618013(-) GCCTCG/ACCGTC 6 /T /A mis117Minor allele frequency- A:0.24NS NA EA EU WA 5934
    rs1884109371,2
    C--618017(+) GCGAGA/GCCAAG 6 G syn10--------
    rs1390105821,2
    C,F--618110(+) CCGCCA/GCCTGG 6 G syn11Minor allele frequency- G:0.00NA 4280
    rs1927325241,2
    C--618115(+) ACCTGA/GCATCG 3 -- int10--------
    rs2020906461,2
    --618120(+) GCATCA/GCAGTG 3 -- int10--------
    rs1165376191,2
    C,F--618131(+) GAAAAC/TGTCAT 3 -- int11Minor allele frequency- T:0.06WA 118
    rs2009285681,2
    --618143(+) ATCCCC/TGCACT 3 -- int10--------
    rs65980081,2
    C,F,A,H--618172(-) TGGCAT/CGGGAA 3 -- int119Minor allele frequency- C:0.46NS EA WA NA CSA 2344
    rs1146046361,2
    F--618180(+) CCAACC/TTGTGC 3 -- int11Minor allele frequency- T:0.03WA 118
    rs27403781,2
    C,H--618339(-) TGCACC/TTCTTG 3 -- int13Minor allele frequency- T:0.01NS NA 174

    HapMap Linkage Disequilibrium report for CDHR5 (616565 - 626078 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for CDHR5
         4 CNVs: 3831 29884 29882 29883

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CDHR5
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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

    CDHR5 for disorders           About MalaCards

    CDHR5 for disorders           About GeneDecksing

    OMIM gene information: 606839    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: CDHR5 (3 documents)

    Export disorders for CDHR5 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 CDHR5 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with CDHR5)
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    1. Characterization of a 500-kb contig spanning the region between c-Ha- Ras and MUC2 on chromosome 11p15.5. (PubMed id 11031102)1, 2, 3, 9 Paris M.J. and Williams B.R.G. (2000)
    2. Identification and expression analysis of the human mu-protocadherin gene in fetal and adult kidneys. (PubMed id 12167596)1, 2, 9 Goldberg M.... Warburton D. (2002)
    3. mu-Protocadherin, a novel developmentally regulated protocadherin with mucin-like domains. (PubMed id 10801787)1, 3, 9 Goldberg M....Al-Awqati Q. (2000)
    4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    7. Biallelic expression of HRAS and MUCDHL in human and mouse. (PubMed id 12589428)1, 9 Goldberg M....Tycko B. (2003)
    8. Cdx2 controls expression of the protocadherin Mucdhl, an inhibitor of growth and b-catenin activity in colon cancer cells. (PubMed id 22202456)1 Hinkel I....Gross I. (2012)
    9. Down-regulation of I1-protocadherin expression is a co mmon event in colorectal carcinogenesis. (PubMed id 21315419)1 Losi L....Grande A. (2011)
    10. Polymorphism at the mucin-like protocadherin gene infl uences susceptibility to gallstone disease. (PubMed id 21839066)1 Chuang S.C....Juo S.H. (2011)

    (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: 53841 HGNC: 7521 AceView: MUCDHL Ensembl:ENSG00000099834 euGenes: HUgn53841
    ECgene: CDHR5 H-InvDB: CDHR5

    (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 CDHR5 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 CDHR5 gene:
    Search GeneIP for patents involving CDHR5

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



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