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

CDHR1 Gene

protein-coding   GIFtS: 55
GCID: GC10P085954

Cadherin-Related Family Member 1

(Previous name: protocadherin 21)
(Previous symbol: PCDH21)
Alzheimer's & Parkinson's Diseases Congress
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(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
Cadherin-Related Family Member 11 2     MT-protocadherin2
PCDH211 2 3 5     RP652
PRCAD2 3 5     protocadherin-212
Photoreceptor Cadherin2 3     KIAA17753
CORD152 5     Protocadherin-213
Protocadherin 211     prCAD3

External Ids:    HGNC: 145501   Entrez Gene: 922112   Ensembl: ENSG000001486007   OMIM: 6095025   UniProtKB: Q96JP93   

Export aliases for CDHR1 gene to outside databases

Previous GC identifer: GC10P079799


(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 CDHR1 Gene:
This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is
a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene
are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different
isoforms have been identified. (provided by RefSeq, Jul 2013)

GeneCards Summary for CDHR1 Gene: 
CDHR1 (cadherin-related family member 1) is a protein-coding gene. Diseases associated with CDHR1 include cone-rod dystrophy 15, and cone-rod dystrophy. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DCHS1.

UniProtKB/Swiss-Prot: CDHR1_HUMAN, Q96JP9
Function: Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the
outer segment (OS) of photoreceptor cells (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CDHR1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDHR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CDHR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDHR1


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

Entrez Gene cytogenetic band: 10q23.1   Ensembl cytogenetic band:  10q23.1   HGNC cytogenetic band: 10q23.1

CDHR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDHR1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P085954:  view genomic region     (about GC identifiers)

Start:
85,954,410 bp from pter      End:
85,979,377 bp from pter
Size:
24,968 bases      Orientation:
plus strand

(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: CDHR1_HUMAN, Q96JP9 (See protein sequence)
Recommended Name: Cadherin-related family member 1 precursor  
Size: 859 amino acids; 93595 Da
Subunit: Interacts with PROM1
Subcellular location: Cell membrane; Single-pass membrane protein (By similarity). Note=Localized at the junction
between the inner and outer segments of rod and cone photoreceptors cells. Confined to the base of the OS.
Localized on the edges of nascent evaginating disks on the side of the OS opposite the connecting cilium.
Expressed at postnatal day 2 at the apical tip of the rod photoreceptor cells, the site of the developing OS.
Colocalized with rhodopsin between postnatal days 2 and 9 at the base of the growing OS region (By similarity)
Secondary accessions: Q69YZ8 Q8IXY5
Alternative splicing: 2 isoforms:  Q96JP9-1   Q96JP9-2   

Explore the universe of human proteins at neXtProt for CDHR1: NX_Q96JP9

Explore proteomics data for CDHR1 at MOPED 

Post-translational modifications:

  • UniProtKB: Undergoes proteolytic cleavage; produces a soluble 95 kDa N-terminal fragment and a 25 kDa cell-associated
    C-terminal fragment (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96JP9

  • CDHR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CDHR1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001165442.1  NP_149091.1  

    ENSEMBL proteins: 
     ENSP00000331063   ENSP00000361189   ENSP00000415980  

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    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 ----
    GO:0005887integral to plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane ----
    GO:0042622photoreceptor outer segment membrane IEA--

    CDHR1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CDHR: Cadherins / Cadherin-related

    3 InterPro protein domains:
     IPR015919 Cadherin-like
     IPR020894 Cadherin_CS
     IPR002126 Cadherin

    Graphical View of Domain Structure for InterPro Entry Q96JP9

    ProtoNet protein and cluster: Q96JP9

    1 Blocks protein domain: IPB002126 Cadherin

    UniProtKB/Swiss-Prot: CDHR1_HUMAN, Q96JP9
    Similarity: Contains 6 cadherin domains


    CDHR1 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: CDHR1_HUMAN, Q96JP9
    Function: Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the
    outer segment (OS) of photoreceptor cells (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    CDHR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CDHR1:
     Decreased Salmonella enterica  

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cdhr1):
     normal  vision/eye 

    CDHR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cdhr1tm1Nat for CDHR1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CDHR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CDHR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CDHR1 
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    hsa-miR-1233 hsa-miR-1294 hsa-miR-637 hsa-miR-4325 hsa-miR-650 hsa-miR-3612
    SwitchGear 3'UTR luciferase reporter plasmidCDHR1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDHR1


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CDHR1

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

    2 Interacting proteins for CDHR1 (Q96JP93 ENSP000003611894) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RYKP349253, ENSP000002960844I2D: score=1 STRING: ENSP00000296084
    PROM1ENSP000004154814STRING: ENSP00000415481
    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:0007156homophilic cell adhesion IEA--
    GO:0009987cellular process ----
    GO:0045494photoreceptor cell maintenance IEA--

    CDHR1 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
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    Browse Tocris compounds for CDHR1

    1 HMDB Compound for CDHR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about CDHR1

    (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 CDHR1 gene (2 alternative transcripts): 
    NM_001171971.2  NM_033100.3  

    Unigene Cluster for CDHR1:

    Cadherin-related family member 1
    Hs.137556  [show with all ESTs]
    Unigene Representative Sequence: NM_033100
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000332904(uc001kcw.3) ENST00000372117(uc001kcv.3 uc009xst.3)
    ENST00000459673(uc001kcx.3) ENST00000440770

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate CDHR1:
    hsa-miR-1233 hsa-miR-1294 hsa-miR-637 hsa-miR-4325 hsa-miR-650 hsa-miR-3612
    SwitchGear 3'UTR luciferase reporter plasmidCDHR1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB053448.1 AB593154.1 AB593155.1 AK124752.1 BC038799.1 

    6 DOTS entries:

    DT.209750  DT.100751041  DT.100751040  DT.91801790  DT.95069816  DT.92411371 

    24/103 AceView cDNA sequences (see all 103):

    BM693111 BM722755 AW295888 BQ639936 T34841 T34854 CA450316 BQ638297 
    BU181921 BU734477 AI460035 BC038799 NM_033100 BQ437325 CA488572 BM694843 
    BM703573 BX281126 BM799943 BU736793 BM705215 Z43499 BM717383 BM697279 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CDHR1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18
    SP1:                                                                                                              -           -     -     -         
    SP2:                                                                                                              -                                 
    SP3:                                                                                            -                 -                                 
    SP4:                                            -     -     -                                                                                       
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for CDHR1

    (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

    CDHR1 expression in normal human tissues (normalized intensities)      CDHR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAATAAAT
    CDHR1 Expression
    About this image


    CDHR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Thalamus
             Septum   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
             Extraocular Muscles
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn   

    See CDHR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDHR1

    SOURCE GeneReport for Unigene cluster: Hs.137556
        SABiosciences Custom PCR Arrays for CDHR1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDHR1

    (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 CDHR1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdhr11 , 5 cadherin-related family member 11, 5 84.91(n)1
    85.41(a)1
      14 (21.29 cM)5
    1706771  NM_130878.21  NP_570948.11 
     370778505 
    chicken
    (Gallus gallus)
    Aves CDHR11 cadherin-related family member 1 70.19(n)
    71.06(a)
      414847  NM_001001759.1  NP_001001759.1 
    lizard
    (Anolis carolinensis)
    Reptilia CDHR16
    Uncharacterized protein
    68(a)
    1 ↔ 1
    GL343199.1(3190944-3255962)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW159202.12   -- 80.04(n)    AW159202.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.110652 Transcribed sequence with weak similarity to protein more 73.97(n)    BG307082.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta shg6
    Cad86C6
    (see all 3)
    Cad86C
    (see all 3)
    8(a)
    6(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    2R(16938107-16944664)
    3R(6652801-6674752)
    worm
    (Caenorhabditis elegans)
    Secernentea hmr-16
    Cadherin-related hmr-1
    6(a)
    possible ortholog
    I(11075758-11134667)


    ENSEMBL Gene Tree for CDHR1 (if available)
    TreeFam Gene Tree for CDHR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CDHR1 gene
    DCHS12  CDHR22  DCHS22  CELSR32  CELSR12  FAT22  PCDH152  FAT42  
    FAT32  CELSR22  FAT12  

    CDHR1 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

    10/794 SNPs in CDHR1 are shown (see all 794)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0387454
    ----see VAR_0387452 A T mis40--------
    VAR_0387474
    ----see VAR_0387472 P A mis40--------
    rs1411443781,2
    C--79805488(+) ATCTC-/AAAAAAAA 2 -- int10--------
    rs1902660051,2
    --79810840(+) ACACAC/TACACA 2 -- int10--------
    rs57866471,2
    C--79811652(+) AAACGT/-TGGAC 2 -- int13Minor allele frequency- -:0.17NA CSA 6
    rs10593411,2
    C,F,A,H--79822444(+) CTGCTC/AGGTCC 2 -- ut31 int1 ese329Minor allele frequency- A:0.46MN NA NS EA WA CSA 2644
    rs561275821,2
    C--79822445(+) TGCTAA/GGTCCC 2 -- ut31 int10--------
    rs595945961,2
    C--85958658(+) GAGAGAG/-GAGGG 2 -- int11Minor allele frequency- -:0.00NA 2
    rs105839381,2
    C,F--85959927(+) ATCTC-/A/AAA 
            
    AAAAA
    4 -- int1 cds12NA CSA 4
    rs339215151,2
    C--85965270(+) CTTAC-/A/C/CA/CA
    CA
    /CACACACA
    CACAC
    2 -- int11CSA 2

    HapMap Linkage Disequilibrium report for CDHR1 (85954410 - 85979377 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CDHR1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv895828CNV Loss21882294


    Human Gene Mutation Database (HGMD): CDHR1
    SABiosciences Cancer Mutation PCR Assays
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    (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: 609502   
    OMIM disorders: 613660  
    UniProtKB/Swiss-Prot: CDHR1_HUMAN, Q96JP9
  • Cone-rod dystrophy 15 (CORD15) [MIM:613660]: An inherited retinal dystrophy characterized by retinal
    pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone
    photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central
    visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis
    pigmentosa. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for CDHR1:    About MalaCards
    cone-rod dystrophy 15    cone-rod dystrophy    fundus dystrophy    leber congenital amaurosis
    retinal degeneration    retinitis pigmentosa    macular degeneration    retinitis
    alzheimer's disease    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for CDHR1:
    Fundus dystrophy     Retinal degeneration

    CDHR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): CDHR1
    Human Genome Epidemiology (HuGE) Navigator: CDHR1 (0 documents)

    Export disorders for CDHR1 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 CDHR1 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with CDHR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs. (PubMed id 11597768)1, 2, 3 Nakajima D.... Ohara O. (2001)
    2. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. (PubMed id 18654668)1, 2, 9 Yang Z.... Zhang K. (2008)
    3. Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. (PubMed id 16288196)1, 2, 9 Bolz H.... Gal A. (2005)
    4. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. (PubMed id 20805371)1, 2 Ostergaard E.... Rosenberg T. (2010)
    5. Biallelic mutation of protocadherin-21 (PCDH21) cause s retinal degeneration in humans. (PubMed id 20087419)1, 9 Henderson R.H....Webster A.R. (2010)
    6. A novel splice site mutation of CDHR1 in a consanguine ous Israeli Christian Arab family segregating autosomal recessive cone-rod dystr ophy. (PubMed id 23233793)1 Cohen B....Ben-Yosef T. (2012)
    7. Identification of a novel mutation in the CDHR1 gene i n a family with recessive retinal degeneration. (PubMed id 23044944)1 Duncan J.L....Ayyagari R. (2012)
    8. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1 Oshikawa M.... Kato S. (2011)
    9. Mindbomb 1, an E3 ubiquitin ligase, forms a complex w ith RYK to activate Wnt/I^-catenin signaling. (PubMed id 21875946)1 Berndt J.D....Moon R.T. (2011)
    10. Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members. (PubMed id 20498078)1 Elledge H.M....MA1ller U. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92211 HGNC: 14550 AceView: PCDH21 Ensembl:ENSG00000148600 euGenes: HUgn92211
    ECgene: CDHR1 H-InvDB: CDHR1

    (According to HUGE)
    About This Section
    HUGE: KIAA1775

    (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 CDHR1 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 CDHR1 gene:
    Search GeneIP for patents involving CDHR1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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