Contactin-associated protein-like 2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the ''CNTNAP2''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome
This gene encodes a member of the
neurexin
Neurexins (NRXN) are a family of presynaptic cell adhesion proteins that have roles in connecting neurons at the synapse. They are located mostly on the presynaptic membrane and contain a single transmembrane domain. The extracellular doma ...
family which functions in the vertebrate nervous system as
cell adhesion molecule
Cell adhesion molecules (CAMs) are a subset of cell surface proteins that are involved in the binding of cells with other cells or with the extracellular matrix (ECM), in a process called cell adhesion. In essence, CAMs help cells stick to each ...
s and receptors. This protein, like other neurexin proteins, contains
epidermal growth factor
Epidermal growth factor (EGF) is a protein that stimulates cell growth and differentiation by binding to its receptor, EGFR. Human EGF is 6-k Da and has 53 amino acid residues and three intramolecular disulfide bonds.
EGF was originally de ...
repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin
N-terminal
The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide, referring to the free amine group (-NH2) located at the end of a polypeptide. Within a peptide, the amin ...
-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with
potassium channel
Potassium channels are the most widely distributed type of ion channel found in virtually all organisms. They form potassium-selective pores that span cell membranes. Potassium channels are found in most cell types and control a wide variety of c ...
s. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.6% of chromosome 7 and is one of the largest genes in the
human genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the ...
. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.
Clinical significance
''CNTNAP2'' has been associated with
autism spectrum disorder
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...
but accounts for very few cases. ''CNTNAP2'' may also be related to a disorder called
specific language impairment
Specific language impairment (SLI) (the term developmental language disorder is preferred by some) is diagnosed when a child's language does not develop normally and the difficulties cannot be accounted for by generally slow development, physical ...
.
Recessive mutations in ''CNTNAP2'' result in a disorder that resembles
Pitt–Hopkins syndrome
Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Pitt-Hopkins syndrome can be marked by intellectu ...
.
Interactions
CNTNAP2 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizat ...
with
CNTN2
Contactin-2 is a protein that in humans is encoded by the ''CNTN2'' gene.
Function
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein th ...
.
See also
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Brett Abrahams
Brett Abrahams (born March 3, 1973) is an American geneticist and neuroscientist involved in the identification and subsequent functional characterization of the autism
The autism spectrum, often referred to as just autism or in the context of ...
, geneticist and neuroscientist
References
External links
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Further reading
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