Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57502
Gene name Gene Name - the full gene name approved by the HGNC.
Neuroligin 4 X-linked
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NLGN4X
Synonyms (NCBI Gene) Gene synonyms aliases
ASPGX2, AUTSX2, HLNX, HNL4X, NLGN4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AUTSX2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.32-p22.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs398124367 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs756651509 G>A Pathogenic Coding sequence variant, stop gained
rs1555913640 G>A Pathogenic Missense variant, coding sequence variant
rs1569118680 TC>- Pathogenic, risk-factor Coding sequence variant, frameshift variant
rs1569118853 ->A Risk-factor Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019360 hsa-miR-148b-3p Microarray 17612493
MIRT029196 hsa-miR-26b-5p Microarray 19088304
MIRT574576 hsa-miR-8066 HITS-CLIP 21572407
MIRT515781 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT574575 hsa-miR-6831-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003360 Process Brainstem development ISS 18227507
GO:0005515 Function Protein binding IPI 11368788, 17292328, 20543817
GO:0005886 Component Plasma membrane IDA 19726642
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300427 14287 ENSG00000146938
Protein
UniProt ID Q8N0W4
Protein name Neuroligin-4, X-linked (Neuroligin X) (HNLX)
Protein function Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members.
PDB 2WQZ , 2XB6 , 3BE8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00135 COesterase 44 590 Carboxylesterase family Domain
Tissue specificity 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:0000269|PubMed:11368788}.
Sequence
MSRPQGLLWLPLLFTPVCVMLNSNVLLWLTALAIKFTLIDSQAQYPVVNTNYGKIRGLRT
PLPNEILGPVEQYLGVPYASPPTGERRFQPPEPPSSWTGIRNTTQFAAVCPQHLDERSLL
HDMLPIWFTANLDTLMTYVQDQNEDCLYLNIYVPTEDDIHDQNSKKPVMVYIHGGSYMEG
TGNMIDGSILASYGNVIVITINYRLGILGFLSTGDQAAKGNYGLLDQIQALRWIEENVGA
FGGDPKRVTIFGSGAGASCVSLLTLSHYSEGLFQKAIIQSGTALSSWAVNYQPAKYTRIL
ADKVGCNMLDTTDMVECLRNKNYKELIQQTITPATYHIAFGPVIDGDVIPDDPQILMEQG
EFLNYDIMLGVNQGEGLKFVDGIVDNEDGVTPNDFDFSVSNFVDNLYGYPEGKDTLRETI
KFMYTDWADKENPETRRKTLVALFTDHQWVAPAVATADLHAQYGSPTYFYAFYHHCQSEM
KPSWADSAHGDEVPYVFGIPMIGPTELFSCNFSKNDVMLSAVVMTYWTNFAKTGDPNQPV
PQDTKFIHTKPNRFEEVAWSKYNPKDQLYLHIGLKPRVRDHYRATKVAFW
LELVPHLHNL
NEIFQYVSTTTKVPPPDMTSFPYGTRRSPAKIWPTTKRPAITPANNPKHSKDPHKTGPED
TTVLIETKRDYSTELSVTIAVGASLLFLNILAFAALYYKKDKRRHETHRRPSPQRNTTND
IAHIQNEEIMSLQMKQLEHDHECESLQAHDTLRLTCPPDYTLTLRRSPDDIPLMTPNTIT
MIPNTLTGMQPLHTFNTFSGGQNSTNLPHGHSTTRV
Sequence length 816
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cell adhesion molecules   Neurexins and neuroligins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism NON RARE IN EUROPE: Autism, Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
12669065
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)
18252227
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Mental retardation Mental Retardation, X-Linked Nonsyndromic, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Autism, X-Linked autism, susceptibility to, X-linked 2 GenCC
Neuroticism Neuroticism GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 12669065, 16648374, 18252227, 18555979, 21569590, 22892527, 22952857, 23710042, 32155636, 32243781
Autistic Disorder Associate 12669065, 16648374, 18555979, 24204716, 27782075, 29244827, 31852540, 32155636, 32243781, 33268543, 36747195
Brain Diseases Associate 18555979
Breast Neoplasms Stimulate 29244827
Developmental Disabilities Associate 33268543
Hirschsprung Disease Associate 29622757
Intellectual Disability Associate 32243781
Neurodevelopmental Disorders Associate 23710042
Night blindness congenital stationary Associate 33268543
Schizophrenia Associate 22952857