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
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; 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

Genomic context

Location:: 1q32.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	1	NC_000001.11 (205042937..205078272)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (205012340..205047173)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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 FunctionsWhat's a GeneRIF?

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.
Our results clearly demonstrate that mouse and human contactin-2 are physiological substrates for BACE1
Title: BACE1 activity regulates cell surface contactin-2 levels.
A single nucleotide deletion in exon 6 of CNTN2 results in a frameshift mutation, segregating in a recessive manner in a consanguineous Egyptian family with epilepsy.
Title: Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
The single-nucleotide polymorphism (SNP) rs2275697 in the TAG-) gene was not associated with treatment responsiveness, treatment dependence, disability, or mortality in chronic inflammatory demyelinating polyneuropathy
Title: Single-nucleotide polymorphism of transient axonal glycoprotein-1 and its correlation with clinical features and prognosis in chronic inflammatory demyelinating polyneuropathy.
allelic variation in TAG-1 does not play a major role in determining multifocal motor neuropathy susceptibility.
Title: Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes.
single nucleotide polymorphisms in TAG-1 are related to the IVIg responsiveness of Chronic inflammatory demyelinating polyneuropathy patients.
Title: Polymorphism of transient axonal glycoprotein-1 in chronic inflammatory demyelinating polyneuropathy.
immune response to CNTN2 and possible involvement in multiple sclerosis and EAE [REVIEW]
Title: The gray aspects of white matter disease in multiple sclerosis.
Contactin-2 is expressed by various neuronal populations and sequestered in the juxtaparanodal domain of myelinated axons both at the axonal and myelin sides; is an autoantigen targeted by T cells and autoantibodies in MS.
Title: Contactin-2/TAG-1-directed autoimmunity is identified in multiple sclerosis patients and mediates gray matter pathology in animals.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

NHGRI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. NHGRI GWA Catalog NHGRI GWA 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)

Pathways from BioSystems

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Axon guidance, organism-specific biosystem (from REACTOME)
Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
L1CAM interactions, organism-specific biosystem (from REACTOME)
L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
NCAM1 interactions, organism-specific biosystem (from REACTOME)
NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
NrCAM interactions, organism-specific biosystem (from REACTOME)
NrCAM interactions, organism-specific biosystemThe NgCAM-related cell adhesion molecule (NrCAM) is member of the L1 family involved in the eye development and node of Ranvier. Like all the other members of L1 family NrCAM also has the ability to...

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

Homology

Homologs of the CNTN2 gene: The CNTN2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 258 organisms have orthologs with human gene CNTN2
Orthologs

Clone Names

FLJ37193, FLJ42746, MGC157722, DKFZp781D102

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
carbohydrate binding	IEA Inferred from Electronic Annotation more info
identical protein binding	TAS Traceable Author Statement more info	PubMed
protein self-association	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
adult walking behavior	IEA Inferred from Electronic Annotation more info
axonal fasciculation	IEA Inferred from Electronic Annotation more info
cell adhesion	NAS Non-traceable Author Statement more info	PubMed
central nervous system myelination	IEA Inferred from Electronic Annotation more info
cerebral cortex GABAergic interneuron migration	IEA Inferred from Electronic Annotation more info
clustering of voltage-gated potassium channels	ISS Inferred from Sequence or Structural Similarity more info
establishment of protein localization to juxtaparanode region of axon	IEA Inferred from Electronic Annotation more info
learning	IEA Inferred from Electronic Annotation more info
microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info
negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of adenosine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
positive regulation of protein processing	IEA Inferred from Electronic Annotation more info
presynaptic membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
protein localization to juxtaparanode region of axon	ISS Inferred from Sequence or Structural Similarity more info
receptor internalization	IEA Inferred from Electronic Annotation more info
regulation of astrocyte differentiation	IEA Inferred from Electronic Annotation more info
regulation of axon diameter	IEA Inferred from Electronic Annotation more info
regulation of neuronal synaptic plasticity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
anchored component of postsynaptic membrane	EXP Inferred from Experiment more info	PubMed
anchored component of postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
cell surface	IEA Inferred from Electronic Annotation more info
juxtaparanode region of axon	ISS Inferred from Sequence or Structural Similarity more info
myelin sheath	ISS Inferred from Sequence or Structural Similarity more info
neuronal cell body	IEA Inferred from Electronic Annotation more info
node of Ranvier	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
synapse	ISS Inferred from Sequence or Structural Similarity more info
voltage-gated potassium channel complex	IEA Inferred from Electronic Annotation 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

4913..40061

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346083.1 → 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

Q02246

UniProtKB/TrEMBL

A0A024R9B4

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

Q02246

UniProtKB/TrEMBL

A0A024R9B4, A1L3A3

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_144350.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p12 Primary Assembly

Range

205042937..205078272

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024449388.1 → XP_024305156.1 contactin-2 isoform X4

Conserved Domains (7) summary

cd05727
Location:23 → 119

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

cd05728
Location:219 → 303

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

cd05854
Location:415 → 494

Ig6_Contactin-2; Sixth immunoglobulin (Ig) domain of contactin-2

cd00063
Location:706 → 798

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 ...

cd04969
Location:324 → 396

Ig5_Contactin; Fifth immunoglobulin (Ig) domain of contactin

cl11960
Location:130 → 215

Ig; Immunoglobulin domain

cl26464
Location:880 → 1075

Atrophin-1; Atrophin-1 family
XM_024449386.1 → XP_024305154.1 contactin-2 isoform X1

Conserved Domains (7) summary

cd05727
Location:144 → 241

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

cd05728
Location:341 → 425

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

cd05854
Location:537 → 616

Ig6_Contactin-2; Sixth immunoglobulin (Ig) domain of contactin-2

cd00063
Location:828 → 920

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 ...

cd04969
Location:446 → 518

Ig5_Contactin; Fifth immunoglobulin (Ig) domain of contactin

cl11960
Location:49 → 142

Ig; Immunoglobulin domain

cl26464
Location:1002 → 1197

Atrophin-1; Atrophin-1 family
XM_017002199.2 → XP_016857688.1 contactin-2 isoform X3
XM_024449387.1 → XP_024305155.1 contactin-2 isoform X4

Related

ENSP00000489754.2, ENST00000636312.2

Conserved Domains (7) summary

cd05727
Location:23 → 119

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

cd05728
Location:219 → 303

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

cd05854
Location:415 → 494

Ig6_Contactin-2; Sixth immunoglobulin (Ig) domain of contactin-2

cd00063
Location:706 → 798

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 ...

cd04969
Location:324 → 396

Ig5_Contactin; Fifth immunoglobulin (Ig) domain of contactin

cl11960
Location:130 → 215

Ig; Immunoglobulin domain

cl26464
Location:880 → 1075

Atrophin-1; Atrophin-1 family
XM_024449389.1 → XP_024305157.1 contactin-2 isoform X5

Conserved Domains (7) summary

cd05727
Location:144 → 241

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

cd05728
Location:341 → 425

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

cd05850
Location:49 → 142

Ig1_Contactin-2; First immunoglobulin (Ig) domain of contactin-2

cd05854
Location:537 → 616

Ig6_Contactin-2; Sixth immunoglobulin (Ig) domain of contactin-2

cd00063
Location:828 → 920

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 ...

cd04968
Location:252 → 337

Ig3_Contactin; Third immunoglobulin (Ig) domain of contactin

cd04969
Location:446 → 518

Ig5_Contactin; Fifth immunoglobulin (Ig) domain of contactin
XM_017002198.1 → XP_016857687.1 contactin-2 isoform X2