CNTN1 Gene (Protein Coding)

Contactin 1

GC12P040692
GIFtS:
45
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been... See more...

Aliases for CNTN1 Gene

Aliases for CNTN1 Gene

  • Contactin 1 2 3 5
  • Neural Cell Surface Protein F3 3 4
  • Glycoprotein GP135 2 3
  • Contactin-1 3 4
  • Glycoprotein Gp135 4
  • GP135 3
  • MYPCN 3
  • F3 3

External Ids for CNTN1 Gene

Previous GeneCards Identifiers for CNTN1 Gene

  • GC12P041375
  • GC12P040985
  • GC12P040803
  • GC12P039372
  • GC12P039508
  • GC12P041086
  • GC12P038113

Summaries for CNTN1 Gene

Entrez Gene Summary for CNTN1 Gene

  • The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for CNTN1 Gene

CNTN1 (Contactin 1) is a Protein Coding gene. Diseases associated with CNTN1 include Myopathy, Congenital, Compton-North and Myopathy, Congenital. Among its related pathways are Notch Signaling Pathway (WikiPathways) and Cell adhesion molecules (CAMs). Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is CNTN5.

UniProtKB/Swiss-Prot Summary for CNTN1 Gene

  • Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity).

Gene Wiki entry for CNTN1 Gene

Additional gene information for CNTN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNTN1 Gene

Genomics for CNTN1 Gene

GeneHancer (GH) Regulatory Elements for CNTN1 Gene

Promoters and enhancers for CNTN1 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
GH12J040692 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 582.8 +0.6 561 2.4 SP1 PHF8 ZIC2 ZNF423 TRIM28 SAP30 NFYB MXI1 ZNF341 OSR2 CNTN1 ENSG00000257680 lnc-MUC19-3
GH12J040827 Promoter/Enhancer 0.9 EPDnew Ensembl 500.1 +135.9 135862 1.4 EP300 ZIC2 ZNF423 ZNF341 MAFF MAFK ZNF610 ZNF629 POLR2A PRDM1 lnc-MUC19-5 CNTN1 PDZRN4 ENSG00000274682
GH12J040697 Enhancer 0.9 Ensembl ENCODE 82.6 +5.6 5562 1.2 ZSCAN5C TCF12 JUND OSR2 WT1 ZBTB17 ZNF184 FOS FOSL2 ZNF213 CNTN1 ENSG00000257680 lnc-MUC19-3
GH12J040734 Enhancer 0.4 Ensembl 40 +42.9 42862 1.8 GATA3 ZNF189 FEZF1 CNTN1 LOC100420117 piR-60246-038
GH12J040759 Enhancer 0.4 dbSUPER 24.3 +69.5 69504 5.8 CTCF NFYB GATA3 GATA2 CNTN1 piR-60246-038 LOC100420117
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNTN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNTN1

Top Transcription factor binding sites by QIAGEN in the CNTN1 gene promoter:
  • AhR
  • Arnt
  • C/EBPalpha
  • C/EBPbeta
  • COMP1
  • CUTL1
  • ISGF-3
  • LCR-F1
  • MyoD
  • RP58

Genomic Locations for CNTN1 Gene

Genomic Locations for CNTN1 Gene
chr12:40,692,439-41,072,415
(GRCh38/hg38)
Size:
379,977 bases
Orientation:
Plus strand
chr12:41,086,244-41,466,220
(GRCh37/hg19)
Size:
379,977 bases
Orientation:
Plus strand

Genomic View for CNTN1 Gene

Genes around CNTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNTN1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CNTN1 Gene

Proteins for CNTN1 Gene

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  • Protein details for CNTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12860-CNTN1_HUMAN
    Recommended name:
    Contactin-1
    Protein Accession:
    Q12860
    Secondary Accessions:
    • A8K0H9
    • A8K0Y3
    • Q12861
    • Q14030
    • Q7M4P0
    • Q8N466

    Protein attributes for CNTN1 Gene

    Size:
    1018 amino acids
    Molecular mass:
    113320 Da
    Quaternary structure:
    • Monomer. Interacts with CNTNAP1 in cis form (By similarity). Binds to the carbonic-anhydrase like domain of PTPRZ1 (PubMed:20133774). Interacts with NOTCH1 and TNR. Detected in a complex with NRCAM and PTPRB (By similarity).

    Three dimensional structures from OCA and Proteopedia for CNTN1 Gene

    Alternative splice isoforms for CNTN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNTN1 Gene

Protein Expression for CNTN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CNTN1 Gene

  • Glycosylation at Asn208, Asn258, Asn338, Asn457, Asn473, Asn494, Asn521, Asn591, Asn630, and Asn933
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CNTN1_HUMAN (1930)

Other Protein References for CNTN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNTN1 Gene

Domains & Families for CNTN1 Gene

Gene Families for CNTN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CNTN1 Gene

Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin I-set
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNTN1 Gene

GenScript: Design optimal peptide antigens:
  • Neural cell surface protein F3 (CNTN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12860

UniProtKB/Swiss-Prot:

CNTN1_HUMAN :
  • Belongs to the immunoglobulin superfamily. Contactin family.
Family:
  • Belongs to the immunoglobulin superfamily. Contactin family.
genes like me logo Genes that share domains with CNTN1: view

Function for CNTN1 Gene

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Molecular function for CNTN1 Gene

UniProtKB/Swiss-Prot Function:
Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity).
GENATLAS Biochemistry:
contactin,neuronal cell adhesion molecule (Ig superfamily),involved in axon growth,isoforms 1,2

Phenotypes From GWAS Catalog for CNTN1 Gene

Gene Ontology (GO) - Molecular Function for CNTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21969550
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with CNTN1: view
genes like me logo Genes that share phenotypes with CNTN1: view

Human Phenotype Ontology for CNTN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNTN1 Gene

MGI Knock Outs for CNTN1:

Animal Model Products

miRNA for CNTN1 Gene

miRTarBase miRNAs that target CNTN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CNTN1 Gene

Localization for CNTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTN1 Gene

[Isoform 1]: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.
[Isoform 2]: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNTN1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
endosome 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CNTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane TAS 7959734
GO:0031225 anchored component of membrane IEA --
GO:0045121 membrane raft IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with CNTN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNTN1 Gene

Pathways & Interactions for CNTN1 Gene

genes like me logo Genes that share pathways with CNTN1: view

Pathways by source for CNTN1 Gene

1 BioSystems pathway for CNTN1 Gene
1 KEGG pathway for CNTN1 Gene
1 R&D Systems pathway for CNTN1 Gene

Gene Ontology (GO) - Biological Process for CNTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,NAS --
GO:0007219 Notch signaling pathway IEA --
GO:0007399 nervous system development IEA --
GO:0010628 positive regulation of gene expression IEA --
GO:0010765 positive regulation of sodium ion transport IEA --
genes like me logo Genes that share ontologies with CNTN1: view

No data available for SIGNOR curated interactions for CNTN1 Gene

Drugs & Compounds for CNTN1 Gene

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No Compound Related Data Available

Transcripts for CNTN1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CNTN1 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNTN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b
SP1: - -
SP2: -
SP3:

Relevant External Links for CNTN1 Gene

GeneLoc Exon Structure for
CNTN1

Expression for CNTN1 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNTN1 Gene

mRNA expression in normal human tissues for CNTN1 Gene
mRNA expression by BioGPS for CNTN1 GenemRNA expression by GTEx for CNTN1 Gene

mRNA differential expression in normal tissues according to GTEx for CNTN1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.5), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Frontal Cortex (BA9) (x4.7).

Protein differential expression in normal tissues from HIPED for CNTN1 Gene

This gene is overexpressed in Frontal cortex (19.9), Brain (13.9), Fetal Brain (9.9), and Serum (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNTN1 Gene



Protein tissue co-expression partners for CNTN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNTN1

SOURCE GeneReport for Unigene cluster for CNTN1 Gene:

Hs.143434

mRNA Expression by UniProt/SwissProt for CNTN1 Gene:

Q12860-CNTN1_HUMAN
Tissue specificity: Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle.

Evidence on tissue expression from TISSUES for CNTN1 Gene

  • Nervous system(4.9)
  • Bone marrow(4)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Thorax:
  • lung
Pelvis:
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CNTN1: view

Orthologs for CNTN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNTN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CNTN1 31 30
  • 99.44 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CNTN1 31 30
  • 92.36 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CNTN1 31 30
  • 92.08 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CNTN1 31
  • 87 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cntn1 30
  • 86.21 (n)
mouse
(Mus musculus)
 Mammalia Cntn1 17 31 30
  • 86.08 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CNTN1 31
  • 79 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CNTN1 31 30
  • 76.31 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CNTN1 31
  • 65 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cntn1 30
  • 70.06 (n)
zebrafish
(Danio rerio)
 Actinopterygii cntn1a 30
  • 59.36 (n)
cntn1b 31
  • 51 (a)
 OneToOne
cntn1 30
fruit fly
(Drosophila melanogaster)
 Insecta Cont 32
  • 31 (a)
worm
(Caenorhabditis elegans)
 Secernentea C33F10.5b 32
  • 23 (a)
C33F10.5a 32
  • 22 (a)
Species where no ortholog for CNTN1 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 CNTN1 Gene

ENSEMBL:
Gene Tree for CNTN1 (if available)
TreeFam:
Gene Tree for CNTN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNTN1: view image

Paralogs for CNTN1 Gene

Paralogs for CNTN1 Gene

(6) SIMAP similar genes for CNTN1 Gene using alignment to 6 proteins:

  • CNTN1_HUMAN
  • F8VQW3_HUMAN
  • F8VUI8_HUMAN
  • F8VUI9_HUMAN
  • F8VX96_HUMAN
  • H0YIJ1_HUMAN
genes like me logo Genes that share paralogs with CNTN1: view

Variants for CNTN1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNTN1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
640567 Uncertain Significance: Myopathy, congenital, compton-north 40,944,027(+) G/A MISSENSE_VARIANT
641061 Uncertain Significance: Myopathy, congenital, compton-north 40,980,940(+) A/G MISSENSE_VARIANT
643635 Uncertain Significance: Myopathy, congenital, compton-north 40,918,762(+) C/T MISSENSE_VARIANT
645568 Uncertain Significance: Myopathy, congenital, compton-north 40,922,293(+) G/A MISSENSE_VARIANT
650397 Uncertain Significance: Myopathy, congenital, compton-north 40,933,490(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CNTN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CNTN1 Gene

Variant ID Type Subtype PubMed ID
dgv2595n54 CNV loss 21841781
dgv807n106 CNV deletion 24896259
dgv808n106 CNV deletion 24896259
dgv82e215 CNV deletion 23714750
esv1308804 CNV deletion 17803354
esv1359669 CNV deletion 17803354
esv1616736 CNV deletion 17803354
esv1646892 CNV deletion 17803354
esv1920593 CNV deletion 18987734
esv2498446 CNV deletion 19546169
esv2665856 CNV deletion 23128226
esv2671801 CNV deletion 23128226
esv2745801 CNV deletion 23290073
esv2745802 CNV deletion 23290073
esv2745803 CNV deletion 23290073
esv2745804 CNV deletion 23290073
esv2745805 CNV deletion 23290073
esv2751098 CNV gain 17911159
esv3549098 CNV deletion 23714750
esv3549102 CNV deletion 23714750
esv3580245 CNV loss 25503493
esv3629298 CNV loss 21293372
esv3629301 CNV loss 21293372
esv3629302 CNV loss 21293372
esv3892194 CNV gain 25118596
esv5231 CNV loss 18987735
esv7063 CNV loss 19470904
esv995948 CNV deletion 20482838
esv997554 CNV deletion 20482838
nsv1042296 CNV gain 25217958
nsv1048258 CNV gain 25217958
nsv1069024 CNV deletion 25765185
nsv1070105 CNV deletion 25765185
nsv1122726 CNV deletion 24896259
nsv1124732 CNV deletion 24896259
nsv1134218 CNV deletion 24896259
nsv1138126 CNV deletion 24896259
nsv1138127 CNV deletion 24896259
nsv1146259 CNV insertion 26484159
nsv523801 CNV loss 19592680
nsv524407 CNV loss 19592680
nsv52882 CNV deletion 16902084
nsv53030 CNV deletion 16902084
nsv558696 CNV gain 21841781
nsv826345 CNV loss 20364138
nsv826346 CNV loss 20364138
nsv826347 CNV loss 20364138
nsv832378 CNV gain 17160897
nsv832379 CNV gain 17160897
nsv832380 CNV loss 17160897
nsv832382 CNV loss 17160897
nsv958642 CNV deletion 24416366
nsv958683 CNV deletion 24416366

Variation tolerance for CNTN1 Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNTN1 Gene

Human Gene Mutation Database (HGMD)
CNTN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNTN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTN1 Gene

Disorders for CNTN1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CNTN1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, congenital, compton-north
  • mypcn
myopathy, congenital
  • batten-turner congenital myopathy
demyelinating polyneuropathy
  • peripheral demyelinating neuropathy
myopathy
  • muscular diseases
autoimmune neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search CNTN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNTN1_HUMAN
  • Myopathy, congenital, Compton-North (MYPCN) [MIM:612540]: A lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band. {ECO:0000269 PubMed:19026398}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CNTN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CNTN1: view

No data available for Genatlas for CNTN1 Gene

Publications for CNTN1 Gene

  1. Molecular cloning and in situ localization of the human contactin gene (CNTN1) on chromosome 12q11-q12. (PMID: 7959734) Berglund EO … Ranscht B (Genomics 1994) 2 3 4 23 54
  2. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. (PMID: 19026398) Compton AG … North KN (American journal of human genetics 2008) 3 4 23 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. 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 41 54
  5. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D … Ferrucci L (PLoS genetics 2008) 3 41 54

ExternalLinks

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