CNTN5 (contactin 5)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 53942
Gene name Contactin 5
Gene symbol CNTN5
Synonyms (NCBI Gene)
HNB-2sNB-2
Chromosome 11
Chromosome location 11q22.1
Summary The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membran
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT901721 hsa-miR-3149 CLIP-seq
MIRT901722 hsa-miR-494 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region TAS
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0007155 Process Cell adhesion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607219 2175 ENSG00000149972
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94779
Protein name Contactin-5 (Neural recognition molecule NB-2) (hNB-2)
Protein function Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory
PDB 4N68 , 5E52
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13895 Ig_2 104 → 191 Immunoglobulin domain Domain
PF07679 I-set 300 → 386 Immunoglobulin I-set domain Domain
PF07679 I-set 390 → 475 Immunoglobulin I-set domain Domain
PF07679 I-set 482 → 568 Immunoglobulin I-set domain Domain
PF07679 I-set 572 → 667 Immunoglobulin I-set domain Domain
PF00041 fn3 672 → 760 Fibronectin type III domain Domain
PF00041 fn3 877 → 962 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and kidney and at very low level in placenta. Not expressed in other tissues. In brain, it is highly expressed in the occipital lobe, amygdala, cerebral cortex, frontal lobe, thalamus and temporal lobe. Expressed at
Sequence 
MASSWKLMLFLSVTMCLSEYSKSLPGLSTSYAALLRIKKSSSSSLFGSKTRPRYSSPSLG
TLSASSPSWLGAAQNYYSPINLYHSSDAFKQDESVDYGPVFVQEPDDIIFPTDSDEKKVA
LNCEVRGNPVPSYRWLRNGTEIDLESDYRYSLIDGTFIISNPSEAKDSGHYQCLATNTVG
SILSREATLQFAYLGNFSGRTRSAVSVREGQGVVLMCSPPPHSPEIIYSWVFNEFPSFVA
EDSRRFISQETGNLYISKVQTSDVGSYICLVKNTVTNARVLSPPTPLTLRNDGVMGEYEP
KIEVHFPFTVTAAKGTTVKMECFALGNPVPTITWMKVNGYIPSKARLRKSQAVLEIPNVQ
LDDAGIYECRAENSRGKNSFRGQLQVYTYPHWVEKLNDTQLDSGSPLRWECKATGKPRPT
YRWLKNGVPLSPQSRVEMVNGVLMIHNVNQSDAGMYQCLAENKYGAIYASAELKILASAP
TFALNQLKKTIIVTKDQEVVIECKPQGSPKPTISWKKGDRAVRENKRIAILPDGSLRILN
ASKSDEGKYVCRGENVFGSAEIIASLSVKEPTRIELTPKRTELTVGESIVLNCKAIHDAS
LDVTFYWTLKGQPIDFEEEGGHFESIRAQASSADLMIRNILLMHAGRYGCRVQTTADSVS
DEAELLVRGPPGPPGIVIVEEITESTATLSWSPAADNHSPISSYNLQARSPFSLGWQTVK
TVPEIITGDMESAMAVDLNPWVEYEFRVVATNPIGTGDPSTPSRMIRTNEAVPKTAPTNV
SGRSGRRHELVIAWEPVSEEFQNGEGFGYIVAFRPNGTRGWKEKMVTSSEASKFIYRDES
VPPLTPFEVKVGVYNNKGDGPFSQIVVICSAEGEPSAAPTDVKATSVSVSEILVAWKHIK
ESLGRPQGFEVGYWKDMEQEDTAETVKTRGNESFVILTGLEGNTLYHFTVRAYNGAGYGP
PSSEVSATTKKSPPSQAPSNLRWEQQGSQVSLGWEPVIPLANESEVVGYKVFYRQEGHSN
SQVIETQKLQAVVPLPDAGVYIIEVRAYSEGGDGTASSQIRVPSYSGGKITSAQSTLHSL
STSSSSVTLLLALMIPSTSW
Sequence length 1100
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Post-translational modification: synthesis of GPI-anchored proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs1944169 RCV005907893
CNTN5-related disorder Uncertain significance; Benign; Likely benign rs200224105, rs2496701731, rs2497001954, rs1432317071, rs61749257, rs201910584, rs201009824, rs200693361, rs61749256, rs200442733, rs201539942, rs201796913, rs141228828, rs201580433, rs778265126
View all (8 more)		 RCV003953984
RCV003412521
RCV003399509
RCV003391593
RCV003921856
RCV003923900
RCV003974261
RCV003977214
RCV003941879
RCV003919530
RCV003931588
RCV003939515
RCV003922055
RCV003942200
RCV003946995
RCV003981789
RCV003976868
RCV003978923
RCV003966962
RCV003943011
RCV003915829
RCV003962846
RCV003940741
CNTN5-related Neurodevelopmental disorder Uncertain significance rs751415649 RCV001839373
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs774932237 RCV004560197
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 20558387, 23577068
Atrial Fibrillation Associate 17903304
Attention Deficit Disorder with Hyperactivity Associate 27166760
Attention Deficit Disorder with Hyperactivity Inhibit 30747104
Autism Spectrum Disorder Associate 27166760, 32807774, 39887962, 40483526
Autistic Disorder Associate 27166760, 30747104
Behcet Syndrome Associate 27548383
Cardiovascular Diseases Associate 17903304, 33441605
Crohn Disease Associate 24707144
Depressive Disorder Associate 32681239