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CDH11 cadherin 11 [ Homo sapiens (human) ]

Gene ID: 1009, updated on 11-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (64943753..65123744, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (70732330..70912379, complement)
105.20220307 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 Influences Differentiation in Human Mesenchymal Stem Cells by Regulating the Extracellular Matrix Via the TGFβ1 Pathway. Passanha FR, et al. Stem Cells, 2022 Jul 27. PMID 35416252, Free PMC Article
  2. Cadherin-11 Regulates Cell Proliferation via the PDGFRβ-ERK1/2 Signaling Pathway in Human Mesenchymal Stem Cells. Passanha FR, et al. Stem Cells, 2022 Mar 16. PMID 35293575
  3. Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia. Minatogawa M, et al. Am J Med Genet A, 2021 Dec. PMID 34278706
  4. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome. Li D, et al. Hum Genet, 2021 Jul. PMID 33811546, Free PMC Article
  5. Cadherin-11 and cardiac fibrosis: A common target for a common pathology. Riley LA, et al. Cell Signal, 2021 Feb. PMID 33285242, Free PMC Article

See all (94) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Cadherin-11 and Its Role in Tissue Fibrosis.
    Title: Cadherin-11 and Its Role in Tissue Fibrosis.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Cadherin-11 and cardiac fibrosis: A common target for a common pathology.
    Title: Cadherin-11 and cardiac fibrosis: A common target for a common pathology.
  9. Cadherin 11 Promotes Immunosuppression and Extracellular Matrix Deposition to Support Growth of Pancreatic Tumors and Resistance to Gemcitabine in Mice.
    Title: Cadherin 11 Promotes Immunosuppression and Extracellular Matrix Deposition to Support Growth of Pancreatic Tumors and Resistance to Gemcitabine in Mice.
  10. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
    Title: Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (72)

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)

Genotypes

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
  
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 IMP
Inferred from Mutant Phenotype
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 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 multicellular organism development IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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 info@ncbi.nlm.nih.gov 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

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