CNTN2

Protein identityUniProt · HPA

UniProt accession

Q02246

Gene

CNTN2

Ensembl

ENSG00000184144

Chromosome

1

Canonical length

1040 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins, Transporters

Secretome location

Secreted in brain

OverviewNCBI Gene

This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

1040 residues, UniProt reviewed canonical sequence.

>Q02246|CNTN2
     1  MGTATRRKPH LLLVAAVALV SSSAWSSALG SQTTFGPVFE DQPLSVLFPE ESTEEQVLLA
    61  CRARASPPAT YRWKMNGTEM KLEPGSRHQL VGGNLVIMNP TKAQDAGVYQ CLASNPVGTV
   121  VSREAILRFG FLQEFSKEER DPVKAHEGWG VMLPCNPPAH YPGLSYRWLL NEFPNFIPTD
   181  GRHFVSQTTG NLYIARTNAS DLGNYSCLAT SHMDFSTKSV FSKFAQLNLA AEDTRLFAPS
   241  IKARFPAETY ALVGQQVTLE CFAFGNPVPR IKWRKVDGSL SPQWTTAEPT LQIPSVSFED
   301  EGTYECEAEN SKGRDTVQGR IIVQAQPEWL KVISDTEADI GSNLRWGCAA AGKPRPTVRW
   361  LRNGEPLASQ NRVEVLAGDL RFSKLSLEDS GMYQCVAENK HGTIYASAEL AVQALAPDFR
   421  LNPVRRLIPA ARGGEILIPC QPRAAPKAVV LWSKGTEILV NSSRVTVTPD GTLIIRNISR
   481  SDEGKYTCFA ENFMGKANST GILSVRDATK ITLAPSSADI NLGDNLTLQC HASHDPTMDL
   541  TFTWTLDDFP IDFDKPGGHY RRTNVKETIG DLTILNAQLR HGGKYTCMAQ TVVDSASKEA
   601  TVLVRGPPGP PGGVVVRDIG DTTIQLSWSR GFDNHSPIAK YTLQARTPPA GKWKQVRTNP
   661  ANIEGNAETA QVLGLTPWMD YEFRVIASNI LGTGEPSGPS SKIRTREAAP SVAPSGLSGG
   721  GGAPGELIVN WTPMSREYQN GDGFGYLLSF RRQGSTHWQT ARVPGADAQY FVYSNESVRP
   781  YTPFEVKIRS YNRRGDGPES LTALVYSAEE EPRVAPTKVW AKGVSSSEMN VTWEPVQQDM
   841  NGILLGYEIR YWKAGDKEAA ADRVRTAGLD TSARVSGLHP NTKYHVTVRA YNRAGTGPAS
   901  PSANATTMKP PPRRPPGNIS WTFSSSSLSI KWDPVVPFRN ESAVTGYKML YQNDLHLTPT
   961  LHLTGKNWIE IPVPEDIGHA LVQIRTTGPG GDGIPAEVHI VRNGGTSMMV ENMAVRPAPH
  1021  PGTVISHSVA MLILIGSLEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CNTN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

157 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CNTN2.

Disease | AllUniProt

Conditions CNTN2 is implicated in, by any mechanism.

• Epilepsy, early-onset, 5, with or without developmental delay (EPEO5) MIM:615400

Disease | GeneticClinVar

41 pathogenic / likely-pathogenic of 881 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Epilepsy, familial adult myoclonic, 5
• Complex neurodevelopmental disorder

Disease | ImmuneIEDB

Conditions an epitope on CNTN2 was assayed in.

• narcolepsy B cell
• multiple sclerosis B cell
• peripheral nervous system disease B cell
• sleep disorder B cell

ReferencesPubMed · IEDB

Publications for CNTN2 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.44

gnomAD pLI

0

gnomAD missense Z

2.59

DepMap mean gene effect

0.09

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult walking behavior
• axon guidance
• axonal fasciculation
• cell adhesion
• central nervous system myelination
• cerebral cortex GABAergic interneuron migration
• clustering of voltage-gated potassium channels
• dendrite self-avoidance
• establishment of localization in cell
• fat cell differentiation
• G protein-coupled adenosine receptor signaling pathway
• homophilic cell adhesion via plasma membrane adhesion molecules
• learning
• microtubule cytoskeleton organization
• negative regulation of neuron differentiation
• positive regulation of adenosine receptor signaling pathway
• positive regulation of protein processing
• protein localization to juxtaparanode region of axon
• protein processing
• receptor internalization
• reduction of food intake in response to dietary excess
• regulation of astrocyte differentiation
• regulation of axon diameter
• regulation of cell morphogenesis
• regulation of neuronal synaptic plasticity
• synapse organization
• establishment of protein localization to juxtaparanode region of axon
• presynaptic membrane organization

Molecular functions

• carbohydrate binding
• cell-cell adhesion mediator activity

Cellular components

• axon
• axon initial segment
• cell surface
• juxtaparanode region of axon
• myelin sheath
• neuronal cell body
• node of Ranvier
• plasma membrane
• postsynaptic membrane
• side of membrane
• synapse

Protein domainsUniProt · Pfam · InterPro

• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Fibronectin type III
• Immunoglobulin-like domain
• Immunoglobulin I-set
• Immunoglobulin-like fold
• Fibronectin type III superfamily
• Immunoglobulin-like domain superfamily
• Contactin-1/2, immunoglobulin domain 2
• Fibronectin type III domain
• Immunoglobulin I-set domain
• Immunoglobulin domain

KeywordsUniProt

• Cell adhesion
• Cell membrane
• Disulfide bond
• Epilepsy
• Glycoprotein
• GPI-anchor
• Immunoglobulin domain
• Lipoprotein
• Membrane
• Repeat
• Signal