• Gene id: 57502

Gene Summary

• Gene Symbol: NLGN4X   Gene   UCSC   Ensembl
• Aliases: ASPGX2, AUTSX2, HLNX, HNL4X, NLGN4
• Gene name: neuroligin 4 X-linked
• Alternate names: neuroligin-4, X-linked,
• Gene location: Xp22.32-p22.31 (6228877: 5890025)     Exons: 13     NC_000023.11
• Gene summary(Entrez): 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 involv
• OMIM: 300427

Protein Summary

• Protein general information: Q8N0W4  
  • Name: Neuroligin 4, X linked (Neuroligin X) (HNLX)
  • Length: 816  
  • Mass: 91915
  • 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
• Sequence:

  MSRPQGLLWLPLLFTPVCVMLNSNVLLWLTALAIKFTLIDSQAQYPVVNTNYGKIRGLRTPLPNEILGPVEQYLG
  VPYASPPTGERRFQPPEPPSSWTGIRNTTQFAAVCPQHLDERSLLHDMLPIWFTANLDTLMTYVQDQNEDCLYLN
  IYVPTEDDIHDQNSKKPVMVYIHGGSYMEGTGNMIDGSILASYGNVIVITINYRLGILGFLSTGDQAAKGNYGLL
  DQIQALRWIEENVGAFGGDPKRVTIFGSGAGASCVSLLTLSHYSEGLFQKAIIQSGTALSSWAVNYQPAKYTRIL
  ADKVGCNMLDTTDMVECLRNKNYKELIQQTITPATYHIAFGPVIDGDVIPDDPQILMEQGEFLNYDIMLGVNQGE
  GLKFVDGIVDNEDGVTPNDFDFSVSNFVDNLYGYPEGKDTLRETIKFMYTDWADKENPETRRKTLVALFTDHQWV
  APAVATADLHAQYGSPTYFYAFYHHCQSEMKPSWADSAHGDEVPYVFGIPMIGPTELFSCNFSKNDVMLSAVVMT
  YWTNFAKTGDPNQPVPQDTKFIHTKPNRFEEVAWSKYNPKDQLYLHIGLKPRVRDHYRATKVAFWLELVPHLHNL
  NEIFQYVSTTTKVPPPDMTSFPYGTRRSPAKIWPTTKRPAITPANNPKHSKDPHKTGPEDTTVLIETKRDYSTEL
  SVTIAVGASLLFLNILAFAALYYKKDKRRHETHRRPSPQRNTTNDIAHIQNEEIMSLQMKQLEHDHECESLQAHD
  TLRLTCPPDYTLTLRRSPDDIPLMTPNTITMIPNTLTGMQPLHTFNTFSGGQNSTNLPHGHSTTRV

• Structural information:
  • Interpro: IPR029058  IPR002018  IPR019819  IPR000460  IPR030025  
  • Prosite: PS00941
  • PDB: 2WQZ 2XB6 3BE8
  • PDBsum: 2WQZ 2XB6 3BE8
  • STRING: ENSP00000370485
• Other Databases: GeneCards:  NLGN4X  Malacards:  NLGN4X

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098985	asymmetric, glutamatergic, excitatory synapse	TAS	cellular component
GO:0098983	symmetric, GABA-ergic, inhibitory synapse	TAS	cellular component
GO:0099054	presynapse assembly	TAS	biological process
GO:0089717	spanning component of membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0009986	cell surface	IBA	cellular component
GO:0042043	neurexin family protein binding	IBA	molecular function
GO:0045202	synapse	IBA	cellular component
GO:0048488	synaptic vesicle endocytosis	IBA	biological process
GO:0050804	modulation of chemical synaptic transmission	IBA	biological process
GO:0097104	postsynaptic membrane assembly	IBA	biological process
GO:0097105	presynaptic membrane assembly	IBA	biological process
GO:0007158	neuron cell-cell adhesion	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0050808	synapse organization	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0042043	neurexin family protein binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0097110	scaffold protein binding	IPI	molecular function
GO:0042043	neurexin family protein binding	IDA	molecular function
GO:0050839	cell adhesion molecule binding	TAS	molecular function
GO:0030425	dendrite	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0060076	excitatory synapse	IDA	cellular component
GO:0090394	negative regulation of excitatory postsynaptic potential	IDA	biological process
GO:0097105	presynaptic membrane assembly	IDA	biological process
GO:0007158	neuron cell-cell adhesion	TAS	biological process
GO:0021549	cerebellum development	ISS	biological process
GO:0035176	social behavior	IMP	biological process
GO:0003360	brainstem development	ISS	biological process
GO:0007612	learning	IMP	biological process
GO:0030182	neuron differentiation	NAS	biological process
GO:0030534	adult behavior	IMP	biological process
GO:0035265	organ growth	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0071625	vocalization behavior	ISS	biological process
GO:0071625	vocalization behavior	IMP	biological process
GO:0071625	vocalization behavior	IMP	biological process
GO:0097110	scaffold protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0031404	chloride ion binding	IDA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050808	synapse organization	NAS	biological process
GO:0042043	neurexin family protein binding	IPI	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0050808	synapse organization	IMP	biological process
GO:0045216	cell-cell junction organization	NAS	biological process
GO:0035176	social behavior	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Autism	KEGG:H02111
Asperger syndrome	KEGG:H01882
Autism	KEGG:H02111
Asperger syndrome	KEGG:H01882
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray