Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5067
Gene name Gene Name - the full gene name approved by the HGNC.
Contactin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNTN3
Synonyms (NCBI Gene) Gene synonyms aliases
BIG-1, PANG, PCS
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p12.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT901666 hsa-miR-129-5p CLIP-seq
MIRT901667 hsa-miR-21 CLIP-seq
MIRT901668 hsa-miR-331-5p CLIP-seq
MIRT901669 hsa-miR-3664-3p CLIP-seq
MIRT901670 hsa-miR-383 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region TAS
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0007155 Process Cell adhesion IEA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601325 2173 ENSG00000113805
Protein
UniProt ID Q9P232
Protein name Contactin-3 (Brain-derived immunoglobulin superfamily protein 1) (BIG-1) (Plasmacytoma-associated neuronal glycoprotein)
Protein function Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity (By similarity).
PDB 1WJ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 26 104 Domain
PF13927 Ig_3 125 200 Domain
PF13927 Ig_3 226 301 Domain
PF07679 I-set 318 403 Immunoglobulin I-set domain Domain
PF07679 I-set 408 496 Immunoglobulin I-set domain Domain
PF13927 Ig_3 500 580 Domain
PF00041 fn3 599 687 Fibronectin type III domain Domain
PF00041 fn3 702 790 Fibronectin type III domain Domain
PF00041 fn3 804 891 Fibronectin type III domain Domain
PF00041 fn3 904 986 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: In brain, it is expressed in frontal lobe, occipital lobe, cerebellum and amygdala. {ECO:0000269|PubMed:11013081}.
Sequence
MMFPWKQLILLSFIGCLGGELLLQGPVFIKEPSNSIFPVGSEDKKITLHCEARGNPSPHY
RWQLNGSDIDMSMEHRYKLNGGNLVVINPNRNWDTGTYQCFATN
SLGTIVSREAKLQFAY
LENFKTKMRSTVSVREGQGVVLLCGPPPHSGELSYAWIFNEYPSFVEEDSRRFVSQETGH
LYISKVEPSDVGNYTCVVTS
MVTNARVLGSPTPLVLRSDGVMGEYEPKIEVQFPETLPAA
KGSTVKLECFALGNPIPQINWRRSDGLPFSSKIKLRKFSGVLEIPNFQQEDAGSYECIAE
N
SRGKNVARGRLTYYAKPHWVQLIKDVEIAVEDSLYWECRASGKPKPSYRWLKNGAALVL
EERTQIENGALTISNLSVTDSGMFQCIAENKHGLVYSSAELKV
VASAPDFSKNPMKKLVQ
VQVGSLVSLDCKPRASPRALSSWKKGDVSVQEHERISLLNDGGLKIANVTKADAGTYTCM
AENQFGKANGTTHLVV
TEPTRITLAPSNMDVSVGESVILPCQVQHDPLLDIIFTWYFNGA
LADFKKDGSHFEKVGGSSSGDLMIRNIQLKHSGKYVCMVQ
TGVDSVSSAADLIVRGSPGP
PENVKVDEITDTTAQLSWKEGKDNHSPVISYSIQARTPFSVGWQTVTTVPEVIDGKTHTA
TVVELNPWVEYEFRVVASNKIGGGEPS
LPSEKVRTEEAVPEVPPSEVNGGGGSRSELVIT
WDPVPEELQNGEGFGYVVAFRPLGVTTWIQTVVTSPDTPRYVFRNESIVPYSPYEVKVGV
YNNKGEGPFS
PVTTVFSAEEEPTVAPSQVSANSLSSSEIEVSWNTIPWKLSNGHLLGYEV
RYWNGGGKEESSSKMKVAGNETSARLRGLKSNLAYYTAVRAYNSAGAGPFS
ATVNVTTKK
TPPSQPPGNVVWNATDTKVLLNWEQVKAMENESEVTGYKVFYRTSSQNNVQVLNTNKTSA
ELVLPIKEDYIIEVKATTDGGDGTSS
EQIRIPRITSMDARGSTSAISNVHPMSSYMPIVL
FLIVYVLW
Sequence length 1028
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Post-translational modification: synthesis of GPI-anchored proteins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Frontal Fibrosing Alopecia Frontal fibrosing alopecia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32672359
Adenoma Associate 32566650
Aortic Aneurysm Familial Abdominal 1 Associate 19497516
Astrocytoma Associate 32647207
Carcinoma Renal Cell Associate 24339735
Colitis Ulcerative Associate 32566650
Colorectal Neoplasms Associate 32566650
Coronary Disease Associate 27175642
Glioblastoma Associate 32647207
Neoplasms Associate 32566650