CNTN2 contactin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CNTN2provided by HGNC
Official Full Name: contactin 2provided by HGNC
Primary source: HGNC:HGNC:2172
See related: Ensembl:ENSG00000184144 MIM:190197; AllianceGenome:HGNC:2172
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AXT; TAX; TAX1; EPEO5; FAME5; TAG-1
Summary: 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]
Expression: Biased expression in brain (RPKM 36.2) and testis (RPKM 4.9) See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (205042949..205078289)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (204307317..204342659)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (205012077..205047417)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gene-gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.
Title: Gene-gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.
Assessment of Bcl-xL, TAX, and HBZ Gene Expression in Adult T cell Leukemia/Lymphoma Patients.
Title: Assessment of Bcl-xL, TAX, and HBZ Gene Expression in Adult T cell Leukemia/Lymphoma Patients.
The molecular mechanism of gamma-aminobutyric acid against AD: the role of CEBPalpha/circAPLP2/miR-671-5p in regulating CNTN1/2 expression.
Title: The molecular mechanism of γ-aminobutyric acid against AD: the role of CEBPα/circAPLP2/miR-671-5p in regulating CNTN1/2 expression.
Contactin-1 Is Reduced in Cerebrospinal Fluid of Parkinson's Disease Patients and Is Present within Lewy Bodies.
Title: Contactin-1 Is Reduced in Cerebrospinal Fluid of Parkinson's Disease Patients and Is Present within Lewy Bodies.
Cord blood exosomal CNTN2 is an attractive candidate for further determination as a molecular marker for neonates at risk for brain iron deficiency, particularly for male neonates.
Title: Cord Blood-Derived Exosomal CNTN2 and BDNF: Potential Molecular Markers for Brain Health of Neonates at Risk for Iron Deficiency.
The strongest associations between protein abundance and Alzheimer's disease severity were found for APLP1, CNTN2 and SPP1 proteins
Title: Brain-related proteins as potential CSF biomarkers of Alzheimer's disease: A targeted mass spectrometry approach.
The data of this study reveal that the contactin-2 changes observed in tissues are reflected in CSF, suggesting that decreased contactin-2 CSF levels might be a biomarker reflecting synaptic or axonal loss.
Title: Contactin-2, a synaptic and axonal protein, is reduced in cerebrospinal fluid and brain tissue in Alzheimer's disease.
the selective distribution of Caspr2 and TAG-1 may be regulated, allowing them to modulate the strategic function of the Kv1 complex along axons
Title: The Kv1-associated molecules TAG-1 and Caspr2 are selectively targeted to the axon initial segment in hippocampal neurons.
the ectodomains of CNTNAP2 and contactin 2 (CNTN2) bind directly and specifically, with low nanomolar affinity.
Title: Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2).
RACK1 interacts with CNTN2, and the effects of RACK1 on glioma cell growth and differentiation are mediated by CNTN2.
Title: RACK1 affects glioma cell growth and differentiation through the CNTN2-mediated RTK/Ras/MAPK pathway.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Epilepsy, familial adult myoclonic, 5 MedGen: C3809374 OMIM: 615400 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-132335 (e-PCR)
- UniSTS:170782

G54651 (e-PCR)
- UniSTS:117852

G59928 (e-PCR)
- UniSTS:137070

D1S2773 (e-PCR)
- UniSTS:63601

SHGC-155664 (e-PCR)
- UniSTS:185209

RH70875 (e-PCR)
- UniSTS:8850

SHGC-76214 (e-PCR)
- UniSTS:15769

WI-15551 (e-PCR)
- UniSTS:73403

SHGC-76210 (e-PCR)
- UniSTS:990

Clone Names

FLJ37193, FLJ42746, MGC157722, DKFZp781D102

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables cell-cell adhesion mediator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled adenosine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adult walking behavior	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonal fasciculation	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in central nervous system myelination	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex GABAergic interneuron migration	IEA Inferred from Electronic Annotation more info
involved_in clustering of voltage-gated potassium channels	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendrite self-avoidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization to juxtaparanode region of axon	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in learning	IEA Inferred from Electronic Annotation more info
involved_in microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of adenosine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein processing	IEA Inferred from Electronic Annotation more info
involved_in presynaptic membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to juxtaparanode region of axon	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein processing	IEA Inferred from Electronic Annotation more info
involved_in receptor internalization	IEA Inferred from Electronic Annotation more info
involved_in reduction of food intake in response to dietary excess	IEA Inferred from Electronic Annotation more info
involved_in regulation of astrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of axon diameter	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuronal synaptic plasticity	IEA Inferred from Electronic Annotation more info
involved_in synapse organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon initial segment	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in juxtaparanode region of axon	ISS Inferred from Sequence or Structural Similarity more info
located_in myelin sheath	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in node of Ranvier	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in side of membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: contactin-2

Names: axonal glycoprotein TAG-1; axonin-1 cell adhesion molecule; contactin 2 (axonal); contactin 2 (transiently expressed); transient axonal glycoprotein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033845.1 RefSeqGene

Range

5001..40078

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346083.2 → NP_001333012.1 contactin-2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL583832

Consensus CDS

CCDS1449.1

UniProtKB/Swiss-Prot

P78432, Q02246, Q5T054

UniProtKB/TrEMBL

A1L3A3, A8K1S0

Related

ENSP00000492617.1, ENST00000638378.1
NM_005076.5 → NP_005067.1 contactin-2 precursor

See identical proteins and their annotated locations for NP_005067.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL583832, BC129986, CN289415, X67734

Consensus CDS

CCDS1449.1

UniProtKB/Swiss-Prot

P78432, Q02246, Q5T054

UniProtKB/TrEMBL

A1L3A3, A8K1S0

Related

ENSP00000330633.4, ENST00000331830.7

Conserved Domains (9) summary

cd04968
Location:239 → 324

Ig3_Contactin_like; Third Ig domain of contactin

cd04969
Location:433 → 505

Ig5_Contactin_like; Fifth Ig domain of contactin

cd05727
Location:131 → 228

Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins

cd05728
Location:328 → 412

Ig4_Contactin-2-like; Fourth Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins

cd05850
Location:36 → 129

Ig1_Contactin-2; First Ig domain of contactin-2

cd05854
Location:524 → 603

Ig6_Contactin-2; Sixth Ig domain of contactin-2

smart00410
Location:246 → 323

IG_like; Immunoglobulin like

cd00063
Location:815 → 907

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:327 → 412

I-set; Immunoglobulin I-set domain

RNA

NR_144350.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL583832