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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]
CNTN2 (Contactin 2) is a Protein Coding gene. Diseases associated with CNTN2 include Epilepsy, Familial Adult Myoclonic, 5 and Benign Adult Familial Myoclonic Epilepsy. Among its related pathways are NCAM1 interactions and Developmental Biology. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is CNTN1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J205053 | Promoter/Enhancer | 0.9 | EPDnew Ensembl dbSUPER | 759 | +0.6 | 564 | 1.8 | POLR2A EZH2 ZNF843 | CNTN2 ENSG00000225063 lnc-NFASC-1 | |
GH01J205041 | Enhancer | 0.5 | dbSUPER | 750.6 | -1.7 | -1651 | 0.3 | SP1 CEBPG RXRA POLR2A HNF4A HNF4G | CNTN2 RF00017-451 | |
GH01J205042 | Enhancer | 0.3 | dbSUPER | 750.6 | -0.5 | -497 | 0.2 | ZNF473 ZNF843 | CNTN2 RF00017-451 | |
GH01J205120 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 22 | +78.9 | 78926 | 3.1 | E2F8 FOXK2 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 ZBTB6 | RBBP5 lnc-DSTYK-2 lnc-CNTN2-7 MDM4 PPP1R15B ELK4 TMCC2 DSTYK CNTN2 NFASC | |
GH01J205210 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 20.7 | +168.3 | 168264 | 3.6 | ZNF785 SIN3A SP1 ZBTB40 SIX5 ZBTB6 RBPJ POLR2A CTBP1 CREB1 | DSTYK MDM4 ELK4 PPP1R15B RBBP5 TMCC2 NFASC CNTN2 NUCKS1 RPL13AP11 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0030246 | carbohydrate binding | IEA | -- |
GO:0042802 | identical protein binding | TAS | 12963709 |
GO:0043621 | protein self-association | IEA | -- |
GO:0098632 | cell-cell adhesion mediator activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | ISS | -- |
GO:0009986 | cell surface | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030424 | axon | IBA | 21873635 |
GO:0031225 | anchored component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Developmental Biology |
.51
|
|
2 | L1CAM interactions | ||
3 | Neuroscience | ||
4 | Cell adhesion molecules (CAMs) | ||
5 | RET signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000226 | microtubule cytoskeleton organization | IEA | -- |
GO:0001764 | neuron migration | IEA | -- |
GO:0007155 | cell adhesion | NAS | 8425542 |
GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | IBA | 21873635 |
GO:0007399 | nervous system development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||
SP2: | |||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||
SP4: | |||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||
SP6: | |||||||||||||||||||||||
SP7: | |||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CNTN2 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CNTN2 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CNTN2 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Cntn2 32 |
|
||
mouse (Mus musculus) |
Mammalia | Cntn2 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | CNTN2 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | CNTN2 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | CNTN2 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | CNTN2 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100487049 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | cntn2 33 32 32 |
|
OneToOne | |
fruit fly (Drosophila melanogaster) |
Insecta | Cont 34 |
|
|
|
worm (Caenorhabditis elegans) |
Secernentea | C33F10.5a 34 |
|
|
|
C33F10.5b 34 |
|
|
SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1040227835 | uncertain-significance, Epilepsy, familial adult myoclonic, 5 | 205,064,726(+) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs114879710 | uncertain-significance, Epilepsy, familial adult myoclonic, 5 | 205,069,497(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs114903768 | benign, Epilepsy, familial adult myoclonic, 5 | 205,064,747(+) | C/A/T | coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant | |
rs115143667 | benign, Epilepsy, familial adult myoclonic, 5 | 205,071,985(+) | G/A | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
rs116036521 | benign, Epilepsy, familial adult myoclonic, 5 | 205,073,145(+) | T/G | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3588628 | CNV | gain | 21293372 |
nsv549041 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy, familial adult myoclonic, 5 |
|
|
benign adult familial myoclonic epilepsy |
|
|
tropical spastic paraparesis |
|
|
glioblastoma |
|
|
adult t-cell leukemia |
|