CNTN5 Gene

HGNC Family	Fibronectin type III domain containing, Immunoglobulin superfamily domain containing
Name	contactin 5
Description	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 membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Contactin 5 (CNTN5), also known as NB‐2, is an immunoglobulin superfamily cell adhesion molecule that is predominantly expressed in the central nervous system and is critical for the establishment of precise neuronal connectivity. Functional studies have demonstrated that CNTN5 regulates target‐specific axon arborization and synapse formation through homophilic interactions and by forming cis‐complexes with partners such as amyloid precursor protein (APP) and APLP1, thereby guiding dendritic branching in specialized circuits – for instance, in the retina and auditory brainstem where CNTN5 deficiency impairs synaptic assembly and leads to increased neuronal apoptosis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In addition, CNTN5 is expressed in forebrain and thalamocortical regions during embryonic and postnatal development, suggesting its involvement in higher-order circuit formation and a link to neurodevelopmental conditions such as autism spectrum disorder."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Complementing these mechanistic insights, several genome‐wide association studies have implicated genetic variants in the CNTN5 locus in a range of complex disorders. Alterations in CNTN5 have been associated with Alzheimer’s disease where CNTN5 markers correlate with neuroimaging features"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", and with cardiovascular traits including atrial fibrillation and heart failure."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Moreover, associations have also been reported with gout"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ", anorexia nervosa"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ", Behçet’s disease"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "and autism spectrum disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " In addition, a novel CNTN5 knockout mouse model has revealed that loss of CNTN5 not only affects neural circuit formation but also leads to a leaner body phenotype along with elevated cardiovascular parameters, indicating broader systemic roles for CNTN5."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these findings underscore the multifunctional role of CNTN5 – bridging neural development with systemic physiological processes – and highlight its importance as a candidate gene in the pathogenesis of several neuropsychiatric and systemic disorders.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yi-Rong Peng, Nicholas M Tran, Arjun Krishnaswamy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Satb1 Regulates Contactin 5 to Pattern Dendrites of a Mammalian Retinal Ganglion Cell."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuron (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuron.2017.07.019"}], "href": "https://doi.org/10.1016/j.neuron.2017.07.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28781169"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28781169"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Manabu Toyoshima, Kunie Sakurai, Kuniko Shimazaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deficiency of neural recognition molecule NB-2 affects the development of glutamatergic auditory pathways from the ventral cochlear nucleus to the superior olivary complex in mouse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Biol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ydbio.2009.09.043"}], "href": "https://doi.org/10.1016/j.ydbio.2009.09.043"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19818338"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19818338"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yasushi Shimoda, Fumiya Koseki, Masaki Itoh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A cis-complex of NB-2/contactin-5 with amyloid precursor-like protein 1 is localized on the presynaptic membrane."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurosci Lett (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neulet.2012.01.026"}], "href": "https://doi.org/10.1016/j.neulet.2012.01.026"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22285261"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22285261"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "K T E Kleijer, A Zuko, Y Shimoda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Contactin-5 expression during development and wiring of the thalamocortical system."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuroscience (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuroscience.2015.09.039"}], "href": "https://doi.org/10.1016/j.neuroscience.2015.09.039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26391921"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26391921"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kristel T E Kleijer, Denise van Nieuwenhuize, Henk A Spierenburg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural abnormalities in the primary somatosensory cortex and a normal behavioral profile in Contactin-5 deficient mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Adh Migr (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/19336918.2017.1288788"}], "href": "https://doi.org/10.1080/19336918.2017.1288788"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28346043"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28346043"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Alessandro Biffi, Christopher D Anderson, Rahul S Desikan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variation and neuroimaging measures in Alzheimer disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Neurol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/archneurol.2010.108"}], "href": "https://doi.org/10.1001/archneurol.2010.108"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20558387"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20558387"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Martin G Larson, Larry D Atwood, Emelia J Benjamin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2350-8-S1-S5"}], "href": "https://doi.org/10.1186/1471-2350-8-S1-S5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17903304"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17903304"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yusuke Kawamura, Hirofumi Nakaoka, Akiyoshi Nakayama, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Rheum Dis (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/annrheumdis-2019-215521"}], "href": "https://doi.org/10.1136/annrheumdis-2019-215521"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31289104"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31289104"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Kazuhiko Nakabayashi, Gen Komaki, Atsushi Tajima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of novel candidate loci for anorexia nervosa at 1q41 and 11q22 in Japanese by a genome-wide association analysis with microsatellite markers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jhg.2009.74"}], "href": "https://doi.org/10.1038/jhg.2009.74"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19680270"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19680270"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Lourdes Ortiz-Fernández, Francisco-David Carmona, Marco-Antonio Montes-Cano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0161305"}], "href": "https://doi.org/10.1371/journal.pone.0161305"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27548383"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27548383"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "O Mercati, G Huguet, A Danckaert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2016.61"}], "href": "https://doi.org/10.1038/mp.2016.61"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27166760"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27166760"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Alexander V Smirnov, Galina V Kontsevaya, Natalia A Feofanova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Unexpected phenotypic effects of a transgene integration causing a knockout of the endogenous Contactin-5 gene in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transgenic Res (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11248-017-0053-y"}], "href": "https://doi.org/10.1007/s11248-017-0053-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29264679"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29264679"}]}]}]}
Synonyms	NB-2, HNB-2S
Proteins	CNTN5_HUMAN
NCBI Gene ID	53942
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CNTN5 has 5,756 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 110 datasets.

Click the + buttons to view associations for CNTN5 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CNTN5 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CNTN5 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CNTN5 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CNTN5 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CNTN5 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CNTN5 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CNTN5 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CNTN5 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CNTN5 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CNTN5 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CNTN5 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CNTN5 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CNTN5 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with CNTN5 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CNTN5 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CNTN5 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CNTN5 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CNTN5 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of CNTN5 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CNTN5 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CNTN5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CNTN5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing CNTN5 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CNTN5 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CNTN5 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CNTN5 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CNTN5 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CNTN5 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	dbGAP Gene-Trait Associations	traits associated with CNTN5 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CNTN5 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with CNTN5 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CNTN5 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CNTN5 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CNTN5 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CNTN5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CNTN5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CNTN5 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CNTN5 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CNTN5 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CNTN5 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CNTN5 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.