NLGN4X - neuroligin 4 X-linked Gene

Homo sapiens

Also known as HLNX; HNL4X; NLGN4; ASPGX2; AUTSX2

Gene ID: 57502 | Gene type: protein coding

About NLGN4X

Cytogenetic location: Xp22.32-p22.31 Genomic coordinates (GRCh38): X:5,890,042-6,228,867 (from NCBI)

This gene has 8 transcripts (splice variants), 248 orthologues, 13 paralogues and is associated with 5 phenotypes. Broad expression in brain (RPKM 6.8), ovary (RPKM 4.3) and 19 other tissues.

Summary

This gene encodes a member of the type-B Carboxylesterase/Lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

NLGN4X Products(4)

mRNA	Protein	Name
NM_001282145.2	NP_001269074.1	neuroligin-4, X-linked
NM_001282146.2	NP_001269075.1	neuroligin-4, X-linked
NM_020742.4	NP_065793.1	neuroligin-4, X-linked
NM_181332.3	NP_851849.1	neuroligin-4, X-linked

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables chloride ion binding	IDA IDA: Inferred from direct assay	18093521	GOA
enables neurexin family protein binding	IDA IDA: Inferred from direct assay	19726642	GOA
enables neurexin family protein binding	IPI IPI: Inferred from physical interaction	18093521	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11368788	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	18093521	GOA
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	11368788	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in adult behavior	IMP IMP: Inferred from mutant phenotype	12669065	GOA
involved in learning	IMP IMP: Inferred from mutant phenotype	12669065	GOA
involved in modulation of chemical synaptic transmission	IDA IDA: Inferred from direct assay	31257103	GOA
involved in modulation of chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	31257103	GOA
involved in negative regulation of excitatory postsynaptic potential	IDA IDA: Inferred from direct assay	19726642	GOA
involved in presynaptic membrane assembly	IDA IDA: Inferred from direct assay	19726642	GOA
involved in regulation of synapse assembly	IDA IDA: Inferred from direct assay	31257103	GOA
involved in regulation of synapse assembly	IMP IMP: Inferred from mutant phenotype	31257103	GOA
involved in social behavior	IMP IMP: Inferred from mutant phenotype	12669065	GOA
involved in synapse organization	IMP IMP: Inferred from mutant phenotype	15150161	GOA
involved in vocalization behavior	IMP IMP: Inferred from mutant phenotype	12669065	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in GABA-ergic synapse	IDA IDA: Inferred from direct assay	31257103	GOA
is active in GABA-ergic synapse	IMP IMP: Inferred from mutant phenotype	31257103	GOA
located in cell surface	IDA IDA: Inferred from direct assay	15150161	GOA
located in dendrite	IDA IDA: Inferred from direct assay	19726642	GOA
located in excitatory synapse	IDA IDA: Inferred from direct assay	15620359	GOA
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	31257103	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	31257103	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11368788	GOA
is active in postsynaptic density membrane	IDA IDA: Inferred from direct assay	31257103	GOA
is active in postsynaptic density membrane	IMP IMP: Inferred from mutant phenotype	31257103	GOA
is active in postsynaptic specialization membrane	IDA IDA: Inferred from direct assay	31257103	GOA
is active in postsynaptic specialization membrane	IMP IMP: Inferred from mutant phenotype	31257103	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NLGN4X Protein Structure

COesterase

0
200
400
600
816 a.a.

Protein Preferred Names

Protein Names

neuroligin-4, X-linked

NLGN4X Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	NLGN4X	Q8N0W4	Nrxn1	Rattus norvegicus	Q63373-3	X-Ray Diffraction	20543817
Cross	NLGN4X	Q8N0W4	Nrxn1	Rattus norvegicus	Q63373-3	SPR	20543817

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NLGN4X Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71165	NLGN4X Protein, Human (HEK293, His)	Q8N0W4-1 (Q42-S676)	≥95%
HY-P76515	NLGN4X Protein, Human (HEK293, Fc)	Q8N0W4-1 (Q42-S676)	≥95%

Related Diseases

Diseases

Alias

Autism X-Linked 2

Autism, Susceptibility To, X-Linked 2	Intellectual Developmental Disorder, X-Linked
AUTSX2	Autism Susceptibility, X-Linked 2
Autism, X-Linked 2	Mental Retardation, X-Linked

Asperger Syndrome, X-Linked 2

Asperger Syndrome, X-Linked, Susceptibility To, 2	ASPGX2
Asperger Syndrome Susceptibility, X-Linked 2	Asperger Syndrome, X-Linked, 2
Asperger Syndrome X-Linked 2

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Childhood Disintegrative Disease

Childhood Disintegrative Disorder	Disintegrative Psychosis
Heller'S Syndrome	Symbiotic Psychosis
Dementia Infantilis	Heller Syndrome
Shared Paranoid Disorder

Pitt-Hopkins-Like Syndrome 2

PTHSL2	Mesh
D006985	Mesh
D008607

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome	Mcops7
Mls Syndrome	Microphthalmia, Syndromic 7
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia With Linear Skin Defects
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome	Syndromic Microphthalmia Type 7
LSDMCA1	Mls
Microphthalmia, Dermal Aplasia, And Sclerocornea	Microphthalmia With Linear Skin Defect Syndrome
Syndromic Microphthalmia 7	Linear Skin Defects With Multiple Congenital Anomalies
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome	Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
Micropthalmia Syndromic 7	Microphthalmia Syndromic 7
Microphthalmia With Linear Skin Lesions Syndrome	Syndromic Microphthalmia-7
Microphthalmia, Dermal Aplasia And Sclerocornea	Microphthalmia, Syndromic, 7
Midas

Atypical Autism

Pdd

Echolalia

Pitt-Hopkins-Like Syndrome 1

Cortical Dysplasia-Focal Epilepsy Syndrome	CDFES
PTHSL1	Cdfe Syndrome
Pitt-Hopkins Like Syndrome 1	Pitt-Hopkins-Like Syndrome-1
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cntnap2-Related Dee
Mesh	D006985
Mesh	D008607

Tic Disorder

Tics	Behavioral Tic

Ichthyosis, X-Linked

X-Linked Ichthyosis	Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency	Steroid Sulfatase Deficiency Disease
XLI	Sts Deficiency
Ssdd	X-Linked Recessive Ichthyosis
X-Linked Ichthyosis With Steryl-Sulphatase Deficiency	X-Linked Placental Steryl-Sulphatase Deficiency
Ssd	X Linked Ichthyosis
Recessive X-Linked Ichthyosis	Rxli
Syndromic Recessive X-Linked Ichthyosis	Recessive X-Linked Ichthyosis With Extracutaneous Manifestations
Syndromic Rxli	X-Linked Ichthyosis Syndrome
IXL	Ichthyosis X-Linked
Sex-Linked Ichthyosis	X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Phelan-Mcdermid Syndrome

Chromosome 22q13.3 Deletion Syndrome	22q13.3 Deletion Syndrome
Telomeric 22q13 Monosomy Syndrome	PHMDS
Deletion 22q13 Syndrome	22q13.3 Deletion
Deletion 22q13.3 Syndrome	Monosomy 22q13
Monosomy 22q13.3	22q13 Deletion Syndrome
Monosomy 22q13 Syndrome	22q13 Deletion
Chromosome Deletion

Chronic Tic Disorder

Chronic Motor Or Vocal Tic Disorder	Tic Disorders
Tic Disorder	Tic Disorder Nos
Tic Nos	Tic Spasm Nos

Gilles De La Tourette Syndrome

Tourette Syndrome	Tourette Disorder
GTS	Ts
Gilles De La Tourette'S Syndrome	Motor-Verbal Tic Disorder
Guinon'S Disease	Psychogenic Tics
Tourette'S Syndrome	Chronic Motor And Vocal Tic Disorder
Td	Tourette'S Disease
Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]	Combined Vocal And Multiple Motor Tic Disorder
Tic De La Tourette

Specific Language Impairment

Language Impairment, Specific

Learning Disability

Learning Disabilities	Learning Disorders
Academic Skill Disorder	Learning Disorder

Specific Developmental Disorder

Stereotypic Movement Disorder

Stereotypy Habit Disorder	Stereotyped Repetitive Movements
Stereotyped Disorder	Stereotypes Nos
Stereotype Habit Disorder

Speech Disorder

Speech Disorders

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09342	NLGN4X Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NLGN4X	MGD	MGI:3775191
Others	NLGN4X	NCBI