Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1009
Gene name Gene Name - the full gene name approved by the HGNC.
Cadherin 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDH11
Synonyms (NCBI Gene) Gene synonyms aliases
CAD11, CDHOB, ESWS, OB, OSF-4, TBHS2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ESWS, TBHS2
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT018564 hsa-miR-335-5p Microarray 18185580
MIRT022977 hsa-miR-124-3p Microarray 18668037
MIRT054102 hsa-miR-200c-3p Immunohistochemistry, Luciferase reporter assay, Microarray, QRTPCR 23497265
MIRT732299 hsa-miR-27b-3p Luciferase reporter assay, qRT-PCR, Western blot 26706910
MIRT732299 hsa-miR-27b-3p Luciferase reporter assay, qRT-PCR, Western blot 26706910
Transcription factors
Transcription factor Regulation Reference
AR Unknown 20191612
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IBA 21873635
GO:0001501 Process Skeletal system development TAS 8163513
GO:0001503 Process Ossification NAS 8163513
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600023 1750 ENSG00000140937
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hearing loss Hearing Loss, Mixed Conductive-Sensorineural rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Bladder exstrophy Bladder Exstrophy ClinVar
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30940143 ClinVar
Glaucoma Glaucoma GWAS
Associations from Text Mining
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