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This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
CNTN4 (Contactin 4) is a Protein Coding gene. Diseases associated with CNTN4 include Chromosome 3Pter-P25 Deletion Syndrome and Spinocerebellar Ataxia 15. Among its related pathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. An important paralog of this gene is CNTN3.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH03J002097 | Promoter/Enhancer | 1.2 | Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.2 | 189 | 2.2 | EZH2 ZNF561 CTCF ZBTB20 RAD21 ZBTB26 ZNF335 ZNF660 NRF1 SP1 | CNTN4 lnc-CNTN6-4 lnc-IL5RA-3 piR-32539-025 | |
GH03J002892 | Promoter | 0.3 | EPDnew | 600 | +793.4 | 793415 | 0.1 | CNTN4 piR-57460-465 HSALNG0023828 IL5RA | ||
GH03J002421 | Enhancer | 0.7 | Ensembl ENCODE | 18.1 | +321.8 | 321798 | 1.2 | TEAD4 YY1 NANOG HLF SP1 USF2 CHD2 | CNTN4 piR-39341-223 HSALNG0023823 IL5RA | |
GH03J003028 | Enhancer | 0.5 | Ensembl | 6.3 | +929.5 | 929498 | 0.6 | RUNX3 ELF1 ATF2 ATF7 TCF7 | CNTN4 HSALNG0023832 piR-48553-182 IL5RA | |
GH03J002510 | Enhancer | 0.6 | Ensembl CraniofacialAtlas | 5 | +412.5 | 412498 | 1.4 | POLR2A SMARCA4 GATA2 | CNTN4 piR-61101-462 piR-38426-014 IL5RA |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0098632 | cell-cell adhesion mediator activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030424 | axon | IBA,NAS | 14571131 |
GO:0031225 | anchored component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IEA | -- |
GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | IBA | 21873635 |
GO:0007158 | neuron cell-cell adhesion | TAS | 14571131 |
GO:0007399 | nervous system development | IMP | 15106122 |
GO:0007409 | axonogenesis | TAS | 14571131 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CNTN4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CNTN4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CNTN4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CNTN4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Cntn4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cntn4 30 |
|
||
Chicken (Gallus gallus) |
Aves | FAR-1 31 |
|
OneToOne | |
CNTN4 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cntn4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cntn4 30 31 |
|
OneToMany | |
cntn3a.1 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | rig-6 30 |
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708711 | Likely Benign: not provided | 2,900,803(+) | C/A | SYNONYMOUS_VARIANT | |
709648 | Benign: not provided | 2,988,444(+) | T/C | SYNONYMOUS_VARIANT | |
716098 | Benign: not provided | 2,883,154(+) | G/A | MISSENSE_VARIANT | |
720244 | Likely Benign: not provided | 2,866,894(+) | C/T | SYNONYMOUS_VARIANT | |
729306 | Likely Benign: not provided | 3,026,111(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
chromosome 3pter-p25 deletion syndrome |
|
|
spinocerebellar ataxia 15 |
|
|
coffin-siris syndrome 6 |
|
|
autism |
|
|
chromosome 14q11-q22 deletion syndrome |
|
|