InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NLGN4X

Summary

InnateDB Protein

IDBP-41670.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NLGN4X

Protein Name

neuroligin 4, X-linked

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000370483

InnateDB Gene

IDBG-41664 (NLGN4X)

Protein Structure

UniProt Annotation

Function

Putative neuronal cell surface protein involved in cell- cell-interactions.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density.

Disease Associations

Autism, X-linked 2 (AUTSX2) [MIM:300495]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Asperger syndrome, X-linked, 2 (ASPGX2) [MIM:300497]: A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to- eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. {ECO:0000269PubMed:14963808}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed at highest levels in heart. Expressed at lower levels in liver, skeletal muscle and pancreas and at very low levels in brain. {ECO:0000269PubMed:11368788}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005515	protein binding
GO:0016787	hydrolase activity
GO:0031404	chloride ion binding
GO:0042043	neurexin family protein binding
GO:0042803	protein homodimerization activity
GO:0050839	cell adhesion molecule binding

Biological Process

GO:0003360	brainstem development
GO:0007158	neuron cell-cell adhesion
GO:0007612	learning
GO:0008152	metabolic process
GO:0021549	cerebellum development
GO:0030182	neuron differentiation
GO:0030534	adult behavior
GO:0035176	social behavior
GO:0035265	organ growth
GO:0045216	cell-cell junction organization
GO:0050808	synapse organization
GO:0071625	vocalization behavior
GO:0090394	negative regulation of excitatory postsynaptic membrane potential
GO:0097105	presynaptic membrane assembly

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0009986	cell surface
GO:0014069	postsynaptic density
GO:0016021	integral component of membrane
GO:0030054	cell junction
GO:0030425	dendrite
GO:0045202	synapse
GO:0045211	postsynaptic membrane
GO:0060076	excitatory synapse