Gene Gene information from NCBI Gene database.
Entrez ID 50937
Gene name Cell adhesion associated, oncogene regulated
Gene symbol CDON
Synonyms (NCBI Gene)
CDOCDON1HPE11IhogORCAM
Chromosome 11
Chromosome location 11q24.2
Summary This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs141081456 C>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs369673018 T>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs387906995 G>A,C Pathogenic, likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs387906996 A>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs387906997 T>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
637
miRTarBase ID miRNA Experiments Reference
MIRT019131 hsa-miR-335-5p Microarray 18185580
MIRT023201 hsa-miR-124-3p Microarray 18668037
MIRT025580 hsa-miR-34a-5p Sequencing 20371350
MIRT026933 hsa-miR-192-5p Microarray 19074876
MIRT027875 hsa-miR-96-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0001708 Process Cell fate specification IEA
GO:0002052 Process Positive regulation of neuroblast proliferation IEA
GO:0002088 Process Lens development in camera-type eye IEA
GO:0005515 Function Protein binding IPI 11782431, 18794898, 19470755, 20519495, 21802063
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608707 17104 ENSG00000064309
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4KMG0
Protein name Cell adhesion molecule-related/down-regulated by oncogenes
Protein function Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells (By similarity).
PDB 3D1M , 3N1F , 3N1Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 28 101 Domain
PF13927 Ig_3 221 294 Domain
PF07679 I-set 312 397 Immunoglobulin I-set domain Domain
PF13927 Ig_3 404 504 Domain
PF00041 fn3 578 667 Fibronectin type III domain Domain
PF00041 fn3 722 807 Fibronectin type III domain Domain
PF00041 fn3 826 916 Fibronectin type III domain Domain
Sequence
MHPDLGPLCTLLYVTLTILCSSVSSDLAPYFTSEPLSAVQKLGGPVVLHCSAQPVTTRIS
WLHNGKTLDGNLEHVKIHQGTLTILSLNSSLLGYYQCLANN
SIGAIVSGPATVSVAVLGD
FGSSTKHVITAEEKSAGFIGCRVPESNPKAEVRYKIRGKWLEHSTENYLILPSGNLQILN
VSLEDKGSYKCAAYNPVTHQLKVEPIGRKLLVSRPSSDDVHILHPTHSQALAVLSRSPVT
LECVVSGVPAPQVYWLKDGQDIAPGSNWRRLYSHLATDSVDPADSGNYSCMAGN
KSGDVK
YVTYMVNVLEHASISKGLQDQIVSLGATVHFTCDVHGNPAPNCTWFHNAQPIHPSARHLT
AGNGLKISGVTVEDVGMYQCVADNGIGFMHSTGRLEI
ENDGGFKPVIITAPVSAKVADGD
FVTLSCNASGLPVPVIRWYDSHGLITSHPSQVLRSKSRKSQLSRPEGLNLEPVYFVLSQA
GASSLHIQAVTQEHAGKYICEAAN
EHGTTQAEASLMVVPFETNTKAETVTLPDAAQNDDR
SKRDGSETGLLSSFPVKVHPSAVESAPEKNASGISVPDAPIILSPPQTHTPDTYNLVWRA
GKDGGLPINAYFVKYRKLDDGVGMLGSWHTVRVPGSENELHLAELEPSSLYEVLMVARSA
AGEGQPA
MLTFRTSKEKTASSKNTQASSPPVGIPKYPVVSEAANNNFGVVLTDSSRHSGV
PEAPDRPTISTASETSVYVTWIPRANGGSPITAFKVEYKRMRTSNWLVAAEDIPPSKLSV
EVRSLEPGSTYKFRVIAINHYGESFRS
SASRPYQVVGFPNRFSSRPITGPHIAYTEAVSD
TQIMLKWTYIPSSNNNTPIQGFYIYYRPTDSDNDSDYKRDVVEGSKQWHMIGHLQPETSY
DIKMQCFNEGGESEFS
NVMICETKVKRVPGASEYPVKDLSTPPNSLGSGGNVGPATSPAR
SSDMLYLIVGCVLGVMVLILMVFIAMCLWKNRQQNTIQKYDPPGYLYQGSDMNGQMVDYT
TLSGASQINGNVHGGFLTNGGLSSGYSHLHHKVPNAVNGIVNGSLNGGLYSGHSNSLTRT
HVDFEHPHHLVNGGGMYTAVPQIDPLECVNCRNCRNNNRCFTKTNSTFSSSPPPVVPVVA
PYPQDGLEMKPLSHVKVPVCLTSAVPDCGQLPEESVKDNVEPVPTQRTCCQDIVNDVSSD
GSEDPAEFSRGQEGMINLRIPDHLQLAKSCVWEGDSCAHSETEINIVSWNALILPPVPEG
CAEKTMWSPPGIPLDSPTEVLQQPRET
Sequence length 1287
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hedgehog signaling pathway   Myogenesis
Ligand-receptor interactions
Activation of SMO
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital ocular coloboma Likely pathogenic rs767611891 RCV000856830
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Holoprosencephaly 11 Likely pathogenic; Pathogenic rs387906995, rs387906996, rs387906997 RCV000023726
RCV000023727
RCV000023728
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary stalk interruption syndrome Pathogenic rs769676286 RCV001257286
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal brain morphology Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CDON-related disorder Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Alobar Holoprosencephaly Alobar Holoprosencephaly ORPHANET_DG
★☆☆☆☆
Found in Text Mining only
Alobar holoprosencephaly Alobar Holoprosencephaly Orphanet
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 32799327 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma HPO_DG
★☆☆☆☆
Found in Text Mining only
Choanal Atresia Choanal Atresia HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital absence of kidneys syndrome Renal agenesis HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital coloboma of iris Congenital Coloboma Of Iris HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of penis Congenital Hypoplasia Of Penis HPO_DG
★☆☆☆☆
Found in Text Mining only