NLGN4X - neuroligin 4 X-linked Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57502

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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%, as determined by reducing SDS-PAGE.
HY-P76515	NLGN4X Protein, Human (HEK293, Fc)	Q8N0W4-1 (Q42-S676)	≥ 95%, as determined by reducing SDS-PAGE.

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

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 Set	/	Unkown

Orthologs Information

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