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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... See more...
Aliases for CNTN2 Gene
Aliases for CNTN2 Gene
External Ids for CNTN2 Gene
- HGNC: 2172
- Entrez Gene: 6900
- Ensembl: ENSG00000184144
- OMIM: 190197
- UniProtKB: Q02246
Previous HGNC Symbols for CNTN2 Gene
- TAX
- AXT
Previous GeneCards Identifiers for CNTN2 Gene
- GC01P202738
- GC01P200473
- GC01P201372
- GC01P202189
- GC01P201743
- GC01P203278
- GC01P205012
- GC01P176177
Summaries for CNTN2 Gene
-
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]
GeneCards Summary for CNTN2 Gene
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.
UniProtKB/Swiss-Prot Summary for CNTN2 Gene
-
In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.
Additional gene information for CNTN2 Gene
- Monarch Initiative
- Search for CNTN2 at DataMed
- Search for CNTN2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNTN2 Gene
Genomics for CNTN2 Gene
GeneHancer (GH) Regulatory Elements for CNTN2 Gene
Promoters and enhancers for CNTN2 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CNTN2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CNTN2 gene promoter:
-
- AML1a
- AP-1
- ATF-2
- c-Jun
- NRSF form 1
- NRSF form 2
Genomic Locations for CNTN2 Gene
Genomic Locations for CNTN2 Gene
- chr1:205,042,937-205,078,289
- (GRCh38/hg38)
- Size:
- 35,353 bases
- Orientation:
- Plus strand
- chr1:205,012,325-205,047,627
- (GRCh37/hg19)
- Size:
- 35,303 bases
- Orientation:
- Plus strand
Genomic View for CNTN2 Gene
Genes around CNTN2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.1 by HGNC
- 1q32.1 by Entrez Gene
- 1q32.1 by Ensembl
CNTN2 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 CNTN2 Gene
Proteins for CNTN2 Gene
-
Protein details for CNTN2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q02246-CNTN2_HUMAN
- Recommended name:
- Contactin-2
- Protein Accession:
- Q02246
- P78432
- Q5T054
Protein attributes for CNTN2 Gene
- Size:
- 1040 amino acids
- Molecular mass:
- 113393 Da
- Quaternary structure:
- No Data Available
Protein Expression for CNTN2 Gene
Post-translational modifications for CNTN2 Gene
Other Protein References for CNTN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CNTN2 Antibody
- Atlas Antibodies Anti-CNTN2 Antibody (HPA012497) and Anti-CNTN2 Antibody (HPA001397)
-
Creative Biolabs
- Recombinant Anti-Human CNTN2 Antibody
- Recombinant Anti-Human CNTN2 Antibody Fab Fragment
- Mouse Anti-CNTN2 Recombinant Antibody (8B9F4G1)
- Mouse Anti-CNTN2 Recombinant Antibody (CBXC-1149)
- Mouse Anti-CNTN2 Recombinant Antibody (CBYY-C2959)
- Mouse Anti-CNTN2 Recombinant Antibody (7H155)
- Mouse Anti-CNTN2 Recombinant Antibody (7H156)
- Rabbit Anti-CNTN2 Monoclnal Antibody (EPR5107)
- Hi-Affi™ Recombinant Rabbit Anti-CNTN2 Monoclonal Antibody (DS742AB)
-
Custom Antibody ServicesOriGene Antibodies for CNTN2
- Novus Biologicals Antibodies for CNTN2
-
Abcam antibodies for CNTN2
- Invitrogen Antibodies for CNTN2 (AFLGC-CNTN2)
-
Biorbyt antibodies for CNTN2
-
Boster Bio Antibodies for CNTN2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CNTN2
- Sino Biological Antibodies for CNTN2
Protein Products
- G Biosciences Human Contactin-2/CNTN2, Lyophilized
- Atlas Antibodies PrEST Antigen CNTN2 (APrEST77496) and PrEST Antigen CNTN2 (APrEST77495)
- Creative Diagnostics Human CNTN2 peptide
-
OriGene Purified Proteins for CNTN2
- Search Origene for MassSpec and Protein Over-expression Lysates for CNTN2
- Origene Custom Protein Services for CNTN2
- Sino Biological Recombinant Proteins for CNTN2
- Sino Biological Cell Lysates for CNTN2
-
ProSci Proteins for CNTN2
-
Abcam proteins for CNTN2
Assay Products
- RayBiotech Custom Human Contactin-2 ELISA
- Novus Biologicals ELISA Kits for CNTN2
-
Boster Bio ELISA Kits for CNTN2
No data available for DME Specific Peptides for CNTN2 Gene
Domains & Families for CNTN2 Gene
Gene Families for CNTN2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted secreted proteins
- Transporters
Protein Domains for CNTN2 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CNTN2 Gene
- GenScript: Design optimal peptide antigens:
-
- Contactin 2 (Axonal) (A1L3A3_HUMAN)
- Transient axonal glycoprotein 1 (CNTN2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q02246- Family:
-
- Belongs to the immunoglobulin superfamily. Contactin family.
Function for CNTN2 Gene
Molecular function for CNTN2 Gene
- UniProtKB/Swiss-Prot Function:
- In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.
Phenotypes From GWAS Catalog for CNTN2 Gene
| 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 |
Phenotypes for CNTN2 Gene
- MGI mutant phenotypes for CNTN2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CNTN2:
Animal Model Products
-
Taconic Biosciences Mouse Models for CNTN2
CRISPR Products
-
OriGene CRISPR knockouts for CNTN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTN2
- genomics-online: gRNA clones - Search for available CNTN2 gRNA products
- Overview of 124 available CNTN2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for CNTN2 - Select products 50% OFF >
- * CNTN2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CNTN2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTN2
miRNA for CNTN2 Gene
- miRTarBase miRNAs that target CNTN2
-
- mmu-let-7b-5p (MIRT012244)
- mmu-mir-34b-5p (MIRT012918)
- mmu-mir-124-3p (MIRT015846)
- mmu-mir-743b-3p (MIRT590345)
- mmu-mir-743a-3p (MIRT590346)
- mmu-mir-136-5p (MIRT590347)
- mmu-mir-1896 (MIRT590348)
- mmu-mir-129-2-3p (MIRT590349)
- mmu-mir-129-1-3p (MIRT590350)
- mmu-mir-3064-5p (MIRT590351)
- mmu-mir-3085-3p (MIRT590352)
- mmu-mir-105 (MIRT601031)
- mmu-mir-291a-3p (MIRT601032)
- mmu-mir-294-3p (MIRT601033)
- mmu-mir-295-3p (MIRT601034)
- mmu-mir-302b-3p (MIRT601035)
- mmu-mir-302d-3p (MIRT601036)
- mmu-mir-1186a (MIRT601037)
- mmu-mir-302a-3p (MIRT601038)
- mmu-mir-532-3p (MIRT605818)
- mmu-mir-150-5p (MIRT605819)
- mmu-mir-5127 (MIRT605820)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CNTN2
- Browse OriGene Inhibitory RNA Products For CNTN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTN2
- genomics-online: shRNA clones - Search for available CNTN2 shRNA products
- Overview of 124 available CNTN2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CNTN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTN2
- genomics-online: cdna clones - Search for available CNTN2 CDNA products
- Overview of 124 available CNTN2 gene related products
- orf clones - Search for available CNTN2 ORF products
- Overview of 124 available CNTN2 gene related products
- Applied Biological Materials (abm): Clones for CNTN2 - Select products 50% OFF >
- * CNTN2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CNTN2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for CNTN2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CNTN2 Gene
Localization for CNTN2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CNTN2 Gene
- Cell membrane; Lipid-anchor, GPI-anchor. Note=Attached to the neuronal membrane by a GPI-anchor and is also released from neurons.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytoskeleton | 1 |
| nucleus | 1 |
| mitochondrion | 0 |
| peroxisome | 0 |
| endoplasmic reticulum | 0 |
| lysosome | 0 |
| golgi apparatus | 0 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNTN2 Gene
Pathways & Interactions for CNTN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Developmental Biology |
.51
|
|
| 2 | L1CAM interactions | ||
| 3 | Neuroscience | ||
| 4 | Cell adhesion molecules (CAMs) | ||
| 5 | RET signaling | ||
Pathways by source for CNTN2 Gene
6 Reactome pathways for CNTN2 Gene
1 KEGG pathway for CNTN2 Gene
1 Cell Signaling Technology pathway for CNTN2 Gene
Interacting Proteins for CNTN2 Gene
Selected Interacting proteins:
Q02246-CNTN2_HUMAN
ENSP00000330633
for CNTN2 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for CNTN2
| 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 | -- |
No data available for SIGNOR curated interactions for CNTN2 Gene
Drugs & Compounds for CNTN2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- G Biosciences Human Contactin-2/CNTN2, Lyophilized
- Atlas Antibodies PrEST Antigen CNTN2 (APrEST77496) and PrEST Antigen CNTN2 (APrEST77495)
- Creative Diagnostics Human CNTN2 peptide
Transcripts for CNTN2 Gene
mRNA/cDNA for CNTN2 Gene
- (2) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (65) Selected AceView cDNA sequences:
- (33) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000640352 4000 bps (ENST00000640352.1)
- ENST00000638378 4447 bps (ENST00000638378.1)
- ENST00000331830 7916 bps (ENST00000331830.6)
- ENST00000636809 3733 bps (ENST00000636809.2)
- ENST00000640428 4146 bps (ENST00000640428.1)
CRISPR Products
-
OriGene CRISPR knockouts for CNTN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTN2
- genomics-online: gRNA clones - Search for available CNTN2 gRNA products
- Overview of 124 available CNTN2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for CNTN2 - Select products 50% OFF >
- * CNTN2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CNTN2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTN2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CNTN2
- Browse OriGene Inhibitory RNA Products For CNTN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTN2
- genomics-online: shRNA clones - Search for available CNTN2 shRNA products
- Overview of 124 available CNTN2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CNTN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTN2
- genomics-online: cdna clones - Search for available CNTN2 CDNA products
- Overview of 124 available CNTN2 gene related products
- orf clones - Search for available CNTN2 ORF products
- Overview of 124 available CNTN2 gene related products
- Applied Biological Materials (abm): Clones for CNTN2 - Select products 50% OFF >
- * CNTN2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CNTN2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| 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: |
Expression for CNTN2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Mature Endothelial Cells Blood Brain Barrier
- Epithalamus
- Cerebellum
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Non-myelinating Schwann Cells Peripheral Nerve Domain
-
Peripheral Nervous System (Nervous System)
- Non-myelinating Schwann Cells Peripheral Nerve Domain
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Eye (Sensory Organs)
- Neural Ectoderm (Nervous System)
mRNA differential expression in normal tissues according to GTEx for CNTN2 Gene
This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x11.6), Brain - Substantia nigra (x7.6), and Brain - Hippocampus (x5.0).
This gene is overexpressed in Frontal cortex (18.8), Cerebrospinal fluid (18.1), Fetal Brain (13.4), and Brain (10.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNTN2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CNTN2 Gene:
CNTN2SOURCE GeneReport for Unigene cluster for CNTN2 Gene:
Hs.519220Evidence on tissue expression from TISSUES for CNTN2 Gene
- Nervous system(5)
- Bone marrow(4)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTN2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- eye
- eyelid
- face
- head
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for CNTN2
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for CNTN2 Gene
Orthologs for CNTN2 Gene
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 |
|
|
- Species where no ortholog for CNTN2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- 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 squirt (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 CNTN2 Gene
- ENSEMBL:
- Gene Tree for CNTN2 (if available)
- TreeFam:
- Gene Tree for CNTN2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CNTN2: view image
Paralogs for CNTN2 Gene
Paralogs for CNTN2 Gene
(8) SIMAP similar genes for CNTN2 Gene using alignment to 3 proteins:
- CNTN2_HUMAN
- A1L3A3_HUMAN
- L8ECB9_HUMAN
Variants for CNTN2 Gene
| 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 |
Residual Variation Intolerance Score:
65.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.39;
88.49% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CNTN2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTN2 Gene
Disorders for CNTN2 Gene
(17) MalaCards diseases for CNTN2 Gene - From: HGMD, LncRNADisease, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epilepsy, familial adult myoclonic, 5 |
|
|
| benign adult familial myoclonic epilepsy |
|
|
| tropical spastic paraparesis |
|
|
| glioblastoma |
|
|
| adult t-cell leukemia |
|
Search CNTN2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CNTN2_HUMAN- Epilepsy, familial adult myoclonic, 5 (FAME5) [MIM:615400]: A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME5 is characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Inheritance is autosomal recessive. {ECO:0000269 PubMed:23518707}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CNTN2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CNTN2 Gene
Publications for CNTN2 Gene
- Isolation of the cDNA and chromosomal localization of the gene (TAX1) encoding the human axonal glycoprotein TAG-1. (PMID: 8307567) Tsiotra PC … Papamatheakis J (Genomics 1993) 2 3 4 23 56
- cDNA cloning, structural features, and eucaryotic expression of human TAG-1/axonin-1. (PMID: 8425542) Hasler TH … Sonderegger P (European journal of biochemistry 1993) 3 4 23 56
- Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. (PMID: 23518707) Stogmann E … Zimprich A (Brain : a journal of neurology 2013) 3 4 56
- Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 43 56
- Single nucleotide polymorphism of TAG-1 influences IVIg responsiveness of Japanese patients with CIDP. (PMID: 19776380) Iijima M … Sobue G (Neurology 2009) 3 43 56
ExternalLinks
Products for CNTN2 Gene
- View all 6 R&D Systems CNTN2 (Contactin-2/TAG1) Products
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Sources for CNTN2 Gene
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