Format

Send to:

Choose Destination

CNTN2 contactin 2 [ Homo sapiens (human) ]

Gene ID: 6900, updated on 2-Oct-2018

Summary

Official Symbol
CNTN2provided by HGNC
Official Full Name
contactin 2provided by HGNC
Primary source
HGNC:HGNC:2172
See related
Ensembl:ENSG00000184144 MIM:190197; Vega:OTTHUMG00000037105
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

Genomic context

See CNTN2 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371695 Neighboring gene uncharacterized LOC105371694 Neighboring gene neurofascin Neighboring gene ribosomal protein L13a pseudogene 11 Neighboring gene transmembrane protein 81 Neighboring gene RB binding protein 5, histone lysine methyltransferase complex subunit Neighboring gene glycogenin 2 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37193, FLJ42746, MGC157722, DKFZp781D102

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
cell-cell adhesion mediator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
dendrite self-avoidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of protein localization to juxtaparanode region of axon IEA
Inferred from Electronic Annotation
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
axon IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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)

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

  1. NG_033845.1 RefSeqGene

    Range
    4913..40061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346083.1NP_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
  2. NM_005076.4NP_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, DA097888, X67734
    Consensus CDS
    CCDS1449.1
    UniProtKB/Swiss-Prot
    Q02246
    UniProtKB/TrEMBL
    A0A024R9B4, A1L3A3
    Related
    ENSP00000330633.4, OTTHUMP00000035179, ENST00000331830.6, OTTHUMT00000090080
    Conserved Domains (9) summary
    cd04968
    Location:239324
    Ig3_Contactin_like; Third Ig domain of contactin
    cd04969
    Location:433505
    Ig5_Contactin_like; Fifth Ig domain of contactin
    cd05727
    Location:131228
    Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
    cd05728
    Location:328412
    Ig4_Contactin-2-like; Fourth Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
    cd05850
    Location:36129
    Ig1_Contactin-2; First Ig domain of contactin-2
    cd05854
    Location:524603
    Ig6_Contactin-2; Sixth Ig domain of contactin-2
    smart00410
    Location:246323
    IG_like; Immunoglobulin like
    cd00063
    Location:815907
    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:327412
    I-set; Immunoglobulin I-set domain

RNA

  1. 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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    205042937..205078272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (7) summary
    cd05727
    Location:23119
    Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
    cd05728
    Location:219303
    Ig4_Contactin-2-like; Fourth Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
    cd05854
    Location:415494
    Ig6_Contactin-2; Sixth immunoglobulin (Ig) domain of contactin-2
    cd00063
    Location:706798
    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:324396
    Ig5_Contactin; Fifth immunoglobulin (Ig) domain of contactin
    cl11960
    Location:130215
    Ig; Immunoglobulin domain
    cl26464
    Location:8801075
    Atrophin-1; Atrophin-1 family
  2. XM_024449386.1XP_024305154.1  contactin-2 isoform X1

    Conserved Domains (7) summary
    cd05727
    Location:144241
    Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
    cd05728
    Location:341425
    Ig4_Contactin-2-like; Fourth Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
    cd05854
    Location:537616
    Ig6_Contactin-2; Sixth immunoglobulin (Ig) domain of contactin-2
    cd00063
    Location:828920
    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:446518
    Ig5_Contactin; Fifth immunoglobulin (Ig) domain of contactin
    cl11960
    Location:49142
    Ig; Immunoglobulin domain
    cl26464
    Location:10021197
    Atrophin-1; Atrophin-1 family
  3. XM_017002199.2XP_016857688.1  contactin-2 isoform X3

  4. XM_024449387.1XP_024305155.1  contactin-2 isoform X4

    Related
    ENSP00000489754.2, ENST00000636312.2
    Conserved Domains (7) summary
    cd05727
    Location:23119
    Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
    cd05728
    Location:219303
    Ig4_Contactin-2-like; Fourth Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
    cd05854
    Location:415494
    Ig6_Contactin-2; Sixth immunoglobulin (Ig) domain of contactin-2
    cd00063
    Location:706798
    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:324396
    Ig5_Contactin; Fifth immunoglobulin (Ig) domain of contactin
    cl11960
    Location:130215
    Ig; Immunoglobulin domain
    cl26464
    Location:8801075
    Atrophin-1; Atrophin-1 family
  5. XM_024449389.1XP_024305157.1  contactin-2 isoform X5

    Conserved Domains (7) summary
    cd05727
    Location:144241
    Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
    cd05728
    Location:341425
    Ig4_Contactin-2-like; Fourth Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
    cd05850
    Location:49142
    Ig1_Contactin-2; First immunoglobulin (Ig) domain of contactin-2
    cd05854
    Location:537616
    Ig6_Contactin-2; Sixth immunoglobulin (Ig) domain of contactin-2
    cd00063
    Location:828920
    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:252337
    Ig3_Contactin; Third immunoglobulin (Ig) domain of contactin
    cd04969
    Location:446518
    Ig5_Contactin; Fifth immunoglobulin (Ig) domain of contactin
  6. XM_017002198.1XP_016857687.1  contactin-2 isoform X2

Support Center