Gene Gene information from NCBI Gene database.
Entrez ID 1009
Gene name Cadherin 11
Gene symbol CDH11
Synonyms (NCBI Gene)
CAD11CDHOBESWSOBOSF-4TBHS2
Chromosome 16
Chromosome location 16q21
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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1555514463 AG>CTGATGATC Pathogenic Frameshift variant, coding sequence variant
rs1555515331 C>A Pathogenic Splice donor variant
rs1555515924 G>C Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
215
miRTarBase ID miRNA Experiments Reference
MIRT018564 hsa-miR-335-5p Microarray 18185580
MIRT022977 hsa-miR-124-3p Microarray 18668037
MIRT054102 hsa-miR-200c-3p ImmunohistochemistryLuciferase reporter assayMicroarrayQRTPCR 23497265
MIRT732299 hsa-miR-27b-3p Luciferase reporter assayqRT-PCRWestern blot 26706910
MIRT732299 hsa-miR-27b-3p Luciferase reporter assayqRT-PCRWestern blot 26706910
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
AR Unknown 20191612
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IBA
GO:0001501 Process Skeletal system development TAS 8163513
GO:0001503 Process Ossification NAS 8163513
GO:0003189 Process Aortic valve formation ISS 26188246
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600023 1750 ENSG00000140937
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55287
Protein name Cadherin-11 (OSF-4) (Osteoblast cadherin) (OB-cadherin)
Protein function Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Required for proper focal
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00028 Cadherin 59 150 Cadherin domain Domain
PF00028 Cadherin 164 259 Cadherin domain Domain
PF00028 Cadherin 273 375 Cadherin domain Domain
PF00028 Cadherin 388 479 Cadherin domain Domain
PF01049 Cadherin_C 641 789 Cadherin cytoplasmic region Family
Tissue specificity TISSUE SPECIFICITY: Expressed mainly in brain but also found in other tissues. Expressed in neuroblasts. In the embryo from 67 to 72 days of gestation, detected at high levels in facial mesenchyme including the central palatal mesenchyme, dental mesenchym
Sequence
Sequence length 796
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Adherens junctions interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
39
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Elsahy-Waters syndrome Likely pathogenic; Pathogenic rs2142492118, rs1555515331, rs1555514463, rs1555515924 RCV004785330
RCV003314254
RCV000626316
RCV000626317
RCV000626318
Teebi hypertelorism syndrome 2 Pathogenic; Likely pathogenic rs2142480699, rs2142528709, rs1000294766, rs2142492118, rs2142459670, rs2142481275, rs2506893332 RCV001823799
RCV001823800
RCV001823801
RCV001823802
RCV001823803
RCV001823804
RCV003387444
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CDH11-related disorder Uncertain significance; Likely benign; Benign rs1315953324, rs35145978, rs146428080, rs571457064, rs376269667, rs878989042, rs76181686 RCV003391585
RCV003921405
RCV003982458
RCV003911571
RCV003933870
RCV003922244
RCV003978982
Glioma susceptibility 1 Uncertain significance rs779648442 RCV005930819
Orofacial cleft 1 Uncertain significance rs34181449 RCV003321461
Oromandibular-limb hypogenesis spectrum Likely benign rs200234049, rs757142171 RCV000240310
RCV000239988
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
abc disease Associate 15509545
Adenocarcinoma Associate 27363029, 27513329, 38250763
Adenocarcinoma of Lung Associate 27513329
Adrenoleukodystrophy Associate 19097204
Alcoholism Associate 21876473
Ameloblastoma Associate 39675431
Amyotrophic Lateral Sclerosis Inhibit 26212797
Aortic Valve Stenosis Associate 36809926
Arthritis Rheumatoid Associate 19274078, 21385358, 22127696, 25975695, 26134265, 29476097, 30828336, 30876808
Atrophy Associate 34051265