Free for academic non-profit institutions. Other users need a Commercial license
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 m... See more...
Aliases for CNTN4 Gene
Aliases for CNTN4 Gene
External Ids for CNTN4 Gene
- HGNC: 2174
- Entrez Gene: 152330
- Ensembl: ENSG00000144619
- OMIM: 607280
- UniProtKB: Q8IWV2
Previous GeneCards Identifiers for CNTN4 Gene
- GC00U990741
- GC03P002492
- GC03P002134
Summaries for CNTN4 Gene
-
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]
GeneCards Summary for CNTN4 Gene
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.
UniProtKB/Swiss-Prot Summary for CNTN4 Gene
-
Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.
Additional gene information for CNTN4 Gene
- HGNC(2174)
- Entrez Gene(152330)
- Ensembl(ENSG00000144619)
- OMIM(607280)
- UniProtKB(Q8IWV2)
- Open Targets Platform(ENSG00000144619)
- Monarch Initiative
- Search for CNTN4 at DataMed
- Search for CNTN4 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNTN4 Gene
Genomics for CNTN4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CNTN4 Gene
| 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 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CNTN4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNTN4
- Top Transcription factor binding sites by QIAGEN in the CNTN4 gene promoter:
-
- AREB6
- C/EBPbeta
- GR
- GR-alpha
- GR-beta
- NRSF form 1
- NRSF form 2
- POU2F1
- S8
- Sox9
Genomic Locations for CNTN4 Gene
Genomic Locations for CNTN4 Gene
- chr3:2,098,803-3,059,080
- (GRCh38/hg38)
- Size:
- 960,278 bases
- Orientation:
- Plus strand
- chr3:2,140,497-3,099,645
- (GRCh37/hg19)
- Size:
- 959,149 bases
- Orientation:
- Plus strand
Genomic View for CNTN4 Gene
Genes around CNTN4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p26.3-p26.2 by HGNC
- 3p26.3-p26.2 by Entrez Gene
- 3p26.3 by Ensembl
CNTN4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CNTN4 Gene
Proteins for CNTN4 Gene
-
Protein details for CNTN4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IWV2-CNTN4_HUMAN
- Recommended name:
- Contactin-4
- Protein Accession:
- Q8IWV2
- B2RAX3
- Q8IX14
- Q8TC35
Protein attributes for CNTN4 Gene
- Size:
- 1026 amino acids
- Molecular mass:
- 113454 Da
- Quaternary structure:
-
- Interacts with PTPRG.
Protein Expression for CNTN4 Gene
Post-translational modifications for CNTN4 Gene
Other Protein References for CNTN4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CNTN4
- Novus Biologicals Antibodies for CNTN4
- Invitrogen Antibodies for CNTN4 (AFLGC-CNTN4)
-
Boster Bio Antibodies for CNTN4
- Sino Biological Antibodies for CNTN4
Protein Products
-
OriGene Purified Proteins for CNTN4
- Search Origene for MassSpec and Protein Over-expression Lysates for CNTN4
- Origene Custom Protein Services for CNTN4
- Novus Biologicals lysates for CNTN4
- Sino Biological Cell Lysates for CNTN4
- Sino Biological Recombinant Proteins for CNTN4
- antibodies-online: Show 8 available Contactin 4 Proteins ranked by validation data
- Compare Top Contactin 4 Proteins
-
Quality Products:
-
Abcam proteins for CNTN4
Assay Products
- G Biosciences Immunotag™ Human CNTN4 (Contactin 4) ELISA
- RayBiotech Custom Human Contactin-4 ELISA
- Novus Biologicals ELISA Kits for CNTN4
No data available for DME Specific Peptides for CNTN4 Gene
Domains & Families for CNTN4 Gene
Gene Families for CNTN4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for CNTN4 Gene
- InterPro:
- Blocks:
-
- Immunoglobulin I-set
- ProtoNet:
Suggested Antigen Peptide Sequences for CNTN4 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ95172, Homo sapiens contactin 4 (CNTN4), transcript variant 3, mRNA (B2RAX3_HUMAN)
- Brain-derived immunoglobulin superfamily protein 2 (CNTN4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8IWV2- Family:
-
- Belongs to the immunoglobulin superfamily. Contactin family.
Function for CNTN4 Gene
Molecular function for CNTN4 Gene
- UniProtKB/Swiss-Prot Function:
- Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.
- UniProtKB/Swiss-Prot Induction:
- By retinoic acid, suggesting that it may act in response to differentiating agents.
Phenotypes From GWAS Catalog for CNTN4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
| GO:0098632 | cell-cell adhesion mediator activity | IBA | 21873635 |
Phenotypes for CNTN4 Gene
- MGI mutant phenotypes for CNTN4:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CNTN4:
Animal Models for CNTN4 Gene
- MGI Knock Outs for CNTN4:
-
- Cntn4 Cntn4<tm1Yyos>
Animal Model Products
-
Taconic Biosciences Mouse Models for CNTN4
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CNTN4 - Select products 50% OFF >
- * CNTN4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CNTN4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTN4
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTN4
miRNA for CNTN4 Gene
- miRTarBase miRNAs that target CNTN4
-
- rno-miR-218a-5p (MIRT003950)
- rno-miR-223-3p (MIRT003951)
- rno-miR-290 (MIRT003952)
- rno-miR-409a-3p (MIRT003953)
- mmu-miR-425-5p (MIRT008520)
- hsa-miR-6736-5p (MIRT512605)
- hsa-miR-4701-3p (MIRT512606)
- hsa-miR-1262 (MIRT512607)
- hsa-miR-6864-3p (MIRT512608)
- hsa-miR-3672 (MIRT512609)
- hsa-miR-4504 (MIRT512610)
- hsa-miR-661 (MIRT512611)
- hsa-miR-873-3p (MIRT512612)
- hsa-miR-6776-5p (MIRT512613)
- hsa-miR-6742-3p (MIRT512614)
- hsa-miR-6827-3p (MIRT512615)
- hsa-miR-340-3p (MIRT512616)
- hsa-miR-5586-3p (MIRT512617)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTN4
- Browse OriGene Inhibitory RNA Products For CNTN4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTN4
Clone Products
- Applied Biological Materials (abm): Clones for CNTN4 - Select products 50% OFF >
- * CNTN4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG219451
- MG219452
- MG219453
- MR219451
- MR219451L3
- MR219451L4
- MR219452
- MR219452L3
- MR219452L4
- MR219453
- MR219453L3
- MR219453L4
- RC214500
- RC214500L1
- RC214500L2
- RC214500L3
- RC214500L4
- RC221480
- RC221480L3
- RC221480L4
- RC233091
- RC233192
- RG214500
- RG221480
- RG233091
- RG233192
- RR208421
- RR208421L3
- RR208421L4
- MR219451L3V
- MR219451L4V
- MR219452L3V
- MR219452L4V
- MR219453L3V
- MR219453L4V
- RC214500L1V
- RC214500L2V
- RC214500L3V
- RC214500L4V
- RC221480L3V
- RC221480L4V
- RR208421L3V
- RR208421L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CNTN4
- Addgene plasmids for CNTN4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTN4
Cell Line Products
-
Horizon Cell Lines for CNTN4
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CNTN4 Gene
Localization for CNTN4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CNTN4 Gene
- Cell membrane. Lipid-anchor, GPI-anchor. Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 0 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNTN4 Gene
Pathways & Interactions for CNTN4 Gene
Pathways by source for CNTN4 Gene
3 Reactome pathways for CNTN4 Gene
Interacting Proteins for CNTN4 Gene
GPS-Prot Interaction Network for CNTN4
| 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 |
No data available for SIGNOR curated interactions for CNTN4 Gene
Transcripts for CNTN4 Gene
mRNA/cDNA for CNTN4 Gene
- 6 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000422330 658 nts (view in UCSC)
- ENST00000427741 3057 nts (view in UCSC)
- ENST00000455083 566 nts (view in UCSC)
- ENST00000418658 5159 nts (view in UCSC)
- ENST00000490876 551 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CNTN4 - Select products 50% OFF >
- * CNTN4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CNTN4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTN4
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTN4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTN4
- Browse OriGene Inhibitory RNA Products For CNTN4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTN4
Clone Products
- Applied Biological Materials (abm): Clones for CNTN4 - Select products 50% OFF >
- * CNTN4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG219451
- MG219452
- MG219453
- MR219451
- MR219451L3
- MR219451L4
- MR219452
- MR219452L3
- MR219452L4
- MR219453
- MR219453L3
- MR219453L4
- RC214500
- RC214500L1
- RC214500L2
- RC214500L3
- RC214500L4
- RC221480
- RC221480L3
- RC221480L4
- RC233091
- RC233192
- RG214500
- RG221480
- RG233091
- RG233192
- RR208421
- RR208421L3
- RR208421L4
- MR219451L3V
- MR219451L4V
- MR219452L3V
- MR219452L4V
- MR219453L3V
- MR219453L4V
- RC214500L1V
- RC214500L2V
- RC214500L3V
- RC214500L4V
- RC221480L3V
- RC221480L4V
- RR208421L3V
- RR208421L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CNTN4
- Addgene plasmids for CNTN4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTN4
Relevant External Links for CNTN4 Gene
- GeneLoc Exon Structure for
- CNTN4
Expression for CNTN4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
- Brain (Nervous System)
- Neurons
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for CNTN4 Gene
This gene is overexpressed in Artery - Aorta (x5.7) and Artery - Tibial (x5.0).
This gene is overexpressed in Cerebrospinal fluid (37.7), Vitreous humor (13.4), Plasma (7.4), and Fetal Brain (7.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNTN4 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNTN4
SOURCE GeneReport for Unigene cluster for CNTN4 Gene:
Hs.298705mRNA Expression by UniProt/SwissProt for CNTN4 Gene:
Q8IWV2-CNTN4_HUMAN
Tissue specificity:
Mainly expressed in brain. Highly expressed in cerebellum and weakly expressed in corpus callosum, caudate nucleus, amygdala and spinal cord. Also expressed in testis, pancreas, thyroid, uterus, small intestine and kidney. Not expressed in skeletal muscle. Isoform 2 is weakly expressed in cerebral cortex.
Evidence on tissue expression from TISSUES for CNTN4 Gene
- Bone marrow(4.1)
- Nervous system(2.8)
- Skin(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTN4 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cheek
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- skull
Thorax:
- heart
- heart valve
Pelvis:
- pelvis
- testicle
Limb:
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- hair
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for CNTN4
-
OriGene qPCR primer pairs and template standards for CNTN4
Gene Expression Assay Products
Orthologs for CNTN4 Gene
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 |
|
- Species where no ortholog for CNTN4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for CNTN4 Gene
- ENSEMBL:
- Gene Tree for CNTN4 (if available)
- TreeFam:
- Gene Tree for CNTN4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CNTN4: view image
Paralogs for CNTN4 Gene
Paralogs for CNTN4 Gene
(19) SIMAP similar genes for CNTN4 Gene using alignment to 7 proteins:
- CNTN4_HUMAN
- C9JGK9_HUMAN
- C9JIY1_HUMAN
- C9JMQ2_HUMAN
- F8WD58_HUMAN
- G3XAD4_HUMAN
- H0Y8U1_HUMAN
Variants for CNTN4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNTN4 Gene
| 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 |
Residual Variation Intolerance Score:
21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.94;
59.68% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CNTN4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTN4 Gene
Disorders for CNTN4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chromosome 3pter-p25 deletion syndrome |
|
|
| spinocerebellar ataxia 15 |
|
|
| coffin-siris syndrome 6 |
|
|
| autism |
|
|
| chromosome 14q11-q22 deletion syndrome |
|
|
Search CNTN4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CNTN4_HUMAN- Note=A chromosomal aberration involving CNTN4 has been found in a boy with characteristic physical features of 3p deletion syndrome (3PDS). Translocation t(3;10)(p26;q26). 3PDS is a rare contiguous gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and characterized by developmental delay, growth retardation, and dysmorphic features. {ECO:0000269 PubMed:15106122}.
Additional Disease Information for CNTN4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for CNTN4 Gene
Publications for CNTN4 Gene
- A novel splice variant of the cell adhesion molecule contactin 4 ( CNTN4) is mainly expressed in human brain. (PMID: 12202991) Zeng L … Mao Y (Journal of human genetics 2002) 2 3 4 23
- Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. (PMID: 15106122) Fernandez T … State MW (American journal of human genetics 2004) 3 4 23
- Cloning and characterization of the human neural cell adhesion molecule, CNTN4 (alias BIG-2). (PMID: 14571131) Hansford LM … Marshall GM (Cytogenetic and genome research 2003) 3 4 23
- Genome-wide association study of intelligence: additive effects of novel brain expressed genes. (PMID: 22449649) Loo SK … Nelson SF (Journal of the American Academy of Child and Adolescent Psychiatry 2012) 3 41
- A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population. (PMID: 22318345) Cha PC … Nakamura Y (Journal of human genetics 2012) 3 41
ExternalLinks
Products for CNTN4 Gene
- View all 5 R&D Systems CNTN4 (Contactin-4) Products
- View all R&D Systems CNTN4 (Contactin-4) Proteins and Enzymes
- View all 3 R&D Systems CNTN4 (Contactin-4) Primary Antibodies
- View all R&D Systems CNTN4 (Contactin-4) cDNA Clones
- Learn more about R&D Systems custom CNTN4 antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for CNTN4
- Custom Assay Services
- OriGene Purified Proteins for CNTN4
- Search Origene for MassSpec and Protein Over-expression Lysates for CNTN4
- Origene Custom Protein Services for CNTN4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTN4
- Browse OriGene Inhibitory RNA Products For CNTN4
- OriGene qPCR primer pairs for CNTN4
- OriGene qPCR primer pairs and template standards for CNTN4
- OriGene CRISPR knockouts for CNTN4
- MG219451
- MG219452
- MG219453
- MR219451
- MR219451L3
- MR219451L4
- MR219452
- MR219452L3
- MR219452L4
- MR219453
- MR219453L3
- MR219453L4
- RC214500
- RC214500L1
- RC214500L2
- RC214500L3
- RC214500L4
- RC221480
- RC221480L3
- RC221480L4
- RC233091
- RC233192
- RG214500
- RG221480
- RG233091
- RG233192
- RR208421
- RR208421L3
- RR208421L4
- MR219451L3V
- MR219451L4V
- MR219452L3V
- MR219452L4V
- MR219453L3V
- MR219453L4V
- RC214500L1V
- RC214500L2V
- RC214500L3V
- RC214500L4V
- RC221480L3V
- RC221480L4V
- RR208421L3V
- RR208421L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CNTN4
- Sino Biological Human cDNA Clone for CNTN4
- Sino Biological Cell Lysates for CNTN4
- Sino Biological Recombinant Proteins for CNTN4
- Sino Biological Antibodies for CNTN4
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CNTN4
- Novus Biologicals lysates for CNTN4
- Novus Biologicals ELISA Kits for CNTN4
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for CNTN4
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for CNTN4
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for CNTN4 (AFLGC-CNTN4)
- VectorBuilder Custom and pre-made DNA vectors for CNTN4 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CNTN4 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CNTN4 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CNTN4 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CNTN4
- Addgene plasmids for CNTN4
- antibodies-online: Show 37 available Contactin 4 Antibodies ranked by validation data
- Compare Top Contactin 4 Antibodies
- antibodies-online: Show 35 available Contactin 4 Elisa Kits ranked by validation data
- Compare Top Contactin 4 Elisa Kits
- antibodies-online: Show 8 available Contactin 4 Proteins ranked by validation data
- Compare Top Contactin 4 Proteins
- Quality Products:
- Horizon Cell Lines for CNTN4
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTN4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTN4
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CNTN4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTN4
Sources for CNTN4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB