TCF4-AS1

Homo sapiens

ASSOCIATED WITH genetic disease; Pitt-Hopkins syndrome

MSH2-OT1

Homo sapiens

ASSOCIATED WITH Lynch syndrome; Lynch syndrome 1; Pitt-Hopkins-like syndrome 2; INTERACTS WITH perfluorooctanoic acid

nlr-1

Caenorhabditis elegans

Enables actin filament binding activity and gap junction channel activity. Involved in positive regulation of gap junction assembly and positive regulation of nematode pharyngeal pumping. Located in gap junction. Expressed in RIS; pharyngeal gland cell; and pharyngeal muscle cell. Human ortholog(s) of this gene implicated in several diseases, including Pitt-Hopkins syndrome; autistic disorder; and communication disorder (multiple). Is an ortholog of human CNTNAP5 (contactin associated protein family member 5).

nrx-1

Caenorhabditis elegans

Involved in negative regulation of receptor clustering. Located in presynaptic active zone. Expressed in GABAergic neurons; cholinergic neurons; nervous system; and ventral cord neurons. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in Pitt-Hopkins-like syndrome 2 and alcohol dependence. Is an ortholog of human NRXN1 (neurexin 1) and NRXN3 (neurexin 3).

Tcf4

Rattus norvegicus

Enables bHLH transcription factor binding activity and double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of beta-catenin-TCF7L2 complex and chromatin. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; Lynch syndrome; and Pitt-Hopkins syndrome. Orthologous to human TCF4 (transcription factor 4); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.

Cntnap2

Rattus norvegicus

Enables protease binding activity and transmembrane transporter binding activity. Involved in prepulse inhibition. Located in several cellular components, including main axon; neuronal cell body; and synaptic membrane. Is active in GABA-ergic synapse; glutamatergic synapse; and presynaptic membrane. Used to study autism spectrum disorder and visual epilepsy. Human ortholog(s) of this gene implicated in several diseases, including Pitt-Hopkins syndrome; autism spectrum disorder (multiple); communication disorder (multiple); cortical dysplasia-focal epilepsy syndrome; and social phobia. Orthologous to human CNTNAP2 (contactin associated protein 2); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; bisphenol A.

Nrxn1

Rattus norvegicus

Enables several functions, including calcium ion binding activity; cell adhesion molecule binding activity; and neuroligin family protein binding activity. Involved in several processes, including cellular response to calcium ion; circadian rhythm; and presynapse assembly. Acts upstream of or within vesicle docking involved in exocytosis. Located in several cellular components, including cell surface; endocytic vesicle; and slit diaphragm. Used to study autism spectrum disorder. Biomarker of transient cerebral ischemia. Human ortholog(s) of this gene implicated in Pitt-Hopkins-like syndrome 2. Orthologous to human NRXN1 (neurexin 1); INTERACTS WITH 17alpha-ethynylestradiol; 2,2',4,4'-Tetrabromodiphenyl ether; 2,3,7,8-tetrachlorodibenzodioxine.

Tcf4

Homo sapiens

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]

Nrxn1

Homo sapiens

This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]

Nelfa

Homo sapiens

This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]