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    CDH11 cadherin 11 [ Homo sapiens (human) ]

    Gene ID: 1009, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CDH11provided by HGNC
    Official Full Name
    cadherin 11provided by HGNC
    Primary source
    HGNC:HGNC:1750
    See related
    Ensembl:ENSG00000140937 MIM:600023; AllianceGenome:HGNC:1750
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OB; ESWS; CAD11; CDHOB; OSF-4; TBHS2
    Summary
    This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in ovary (RPKM 46.8), placenta (RPKM 33.6) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDH11 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (64943753..65123744, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (70732330..70912379, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (64977656..65155966, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984822 Neighboring gene uncharacterized LOC124903779 Neighboring gene uncharacterized LOC105371313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:65105573-65106491 Neighboring gene long intergenic non-protein coding RNA 2126 Neighboring gene NANOG hESC enhancer GRCh37_chr16:65260913-65261414 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:65263556-65264056 Neighboring gene uncharacterized LOC124903780 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:65264057-65264557 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:65268706-65269234 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:65269235-65269763 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:65269764-65270292 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:65340354-65341222 Neighboring gene long intergenic non-protein coding RNA 922 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:65352533-65353244 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:65408883-65410082 Neighboring gene fragile site, distamycin A type, rare, fra(16)(q22.1)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cadherin-11 is expressed in detrusor smooth muscle cells and myofibroblasts of normal human bladder. Kuijpers KA, et al. Eur Urol, 2007 Oct. PMID 17292535
    2. Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. Harms FL, et al. Am J Med Genet A, 2018 Feb. PMID 29271567
    3. The intracellular domain of cadherin-11 is not required for the induction of cell aggregation, adhesion or gap-junction formation. Braungart E, et al. Cell Commun Adhes, 2001. PMID 11775026
    4. Gene expression profiling of human colon xenograft tumors following treatment with SU11248, a multitargeted tyrosine kinase inhibitor. Morimoto AM, et al. Oncogene, 2004 Feb 26. PMID 14985702
    5. Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. Taskiran EZ, et al. Am J Med Genet A, 2017 Dec. PMID 28988429

    See all (101) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. YTHDF1 promotes the osteolytic bone metastasis of breast cancer via inducing EZH2 and CDH11 translation.
      Title: YTHDF1 promotes the osteolytic bone metastasis of breast cancer via inducing EZH2 and CDH11 translation.
    2. Cadherin-11 contributes to the heterogenous and dynamic Wnt-Wnt-beta-catenin pathway activation in Ewing sarcoma.
      Title: Cadherin-11 contributes to the heterogenous and dynamic Wnt-Wnt-β-catenin pathway activation in Ewing sarcoma.
    3. Let-7c-3p suppresses lens epithelial-mesenchymal transition by inhibiting cadherin-11 expression in fibrotic cataract.
      Title: Let-7c-3p suppresses lens epithelial-mesenchymal transition by inhibiting cadherin-11 expression in fibrotic cataract.
    4. Cadherin-11 increases tumor cell proliferation and metastatic potential via Wnt pathway activation.
      Title: Cadherin-11 increases tumor cell proliferation and metastatic potential via Wnt pathway activation.
    5. Computational evidence for multi-layer crosstalk between the cadherin-11 and PDGFR pathways.
      Title: Computational evidence for multi-layer crosstalk between the cadherin-11 and PDGFR pathways.
    6. Cadherin-11 and Its Role in Tissue Fibrosis.
      Title: Cadherin-11 and Its Role in Tissue Fibrosis.
    7. Inhibition of miR-101-3p prevents human aortic valve interstitial cell calcification through regulation of CDH11/SOX9 expression.
      Title: Inhibition of miR-101-3p prevents human aortic valve interstitial cell calcification through regulation of CDH11/SOX9 expression.
    8. Cadherin-11 Influences Differentiation in Human Mesenchymal Stem Cells by Regulating the Extracellular Matrix Via the TGFbeta1 Pathway.
      Title: Cadherin-11 Influences Differentiation in Human Mesenchymal Stem Cells by Regulating the Extracellular Matrix Via the TGFβ1 Pathway.
    9. Cadherin-11 Regulates Cell Proliferation via the PDGFRbeta-ERK1/2 Signaling Pathway in Human Mesenchymal Stem Cells.
      Title: Cadherin-11 Regulates Cell Proliferation via the PDGFRβ-ERK1/2 Signaling Pathway in Human Mesenchymal Stem Cells.
    10. Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.
      Title: Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.
    Submit: New GeneRIF Correction See all GeneRIFs (75)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Elsahy-Waters syndrome
    MedGen: C0809936 OMIM: 211380 GeneReviews: Not available
    		Compare labs
    Teebi hypertelorism syndrome 2
    MedGen: C5676911 OMIM: 619736 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in adherens junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aortic valve formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion mediated by cadherin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in corticospinal tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ossification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cadherin-11
    Names
    cadherin 11, type 2, OB-cadherin (osteoblast)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029491.2 RefSeqGene

      Range
      4954..183264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001308392.2 → NP_001295321.1  cadherin-11 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 3' coding region which results in a frameshift compared to variant 1. The encoded isoform (2) has a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AC010533, BQ007417, D21255, DA406052
      Consensus CDS
      CCDS81993.1
      UniProtKB/Swiss-Prot
      P55287
      Related
      ENSP00000377711.3, ENST00000394156.7
      Conserved Domains (2) summary
      cd11304
      Location:163 → 264
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79 → 157
      CA; Cadherin repeats

    2. NM_001330576.2 → NP_001317505.1  cadherin-11 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC010533, AC137643, BQ007417
      Consensus CDS
      CCDS81992.1
      UniProtKB/TrEMBL
      B4DMA7, H3BUU9
      Related
      ENSP00000457812.1, ENST00000566827.5

    3. NM_001797.4 → NP_001788.2  cadherin-11 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001788.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC010533, AC137643, AK291251, BQ007417
      Consensus CDS
      CCDS10803.1
      UniProtKB/Swiss-Prot
      A8K5D6, A8MZC8, B7WP28, P55287, Q15065, Q15066, Q9UQ93, Q9UQ94
      UniProtKB/TrEMBL
      Q96CZ9
      Related
      ENSP00000268603.4, ENST00000268603.9
      Conserved Domains (3) summary
      cd11304
      Location:163 → 264
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79 → 157
      CA; Cadherin repeats
      pfam01049
      Location:641 → 789
      Cadherin_C; Cadherin cytoplasmic region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      64943753..65123744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433486.1 → XP_047289442.1  cadherin-11 isoform X1

      UniProtKB/TrEMBL
      H3BUU9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      70732330..70912379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379352.1 → XP_054235327.1  cadherin-11 isoform X1

      UniProtKB/TrEMBL
      H3BUU9

    2. XM_054379350.1 → XP_054235325.1  cadherin-11 isoform X2

      UniProtKB/Swiss-Prot
      A8K5D6, A8MZC8, B7WP28, P55287, Q15065, Q15066, Q9UQ93, Q9UQ94

    3. XM_054379351.1 → XP_054235326.1  cadherin-11 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033664.1: Suppressed sequence

      Description
      NM_033664.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55287.2 GenPept UniProtKB/Swiss-Prot:P55287

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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