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Aliases for NLGN4X Gene

Aliases for NLGN4X Gene

  • Neuroligin 4, X-Linked 2 3
  • NLGN4 3 4 6
  • KIAA1260 4 6
  • ASPGX2 3 6
  • AUTSX2 3 6
  • Neuroligin-4, X-Linked 3
  • Neuroligin 4 2
  • Neuroligin X 4
  • HNL4X 3
  • HLNX 3
  • HNLX 4

External Ids for NLGN4X Gene

Previous Symbols for NLGN4X Gene

  • NLGN4

Summaries for NLGN4X Gene

Entrez Gene Summary for NLGN4X 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 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]

GeneCards Summary for NLGN4X Gene

NLGN4X (Neuroligin 4, X-Linked) is a Protein Coding gene. Diseases associated with NLGN4X include nlgn4-related x-linked mental retardation and autism susceptibility, x-linked 2. Among its related pathways are Cell adhesion molecules (CAMs). GO annotations related to this gene include protein homodimerization activity and neurexin family protein binding. An important paralog of this gene is CES2.

UniProtKB/Swiss-Prot for NLGN4X Gene

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

Gene Wiki entry for NLGN4X Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLGN4X Gene

Genomics for NLGN4X Gene

Genomic Location for NLGN4X Gene

Start:
5,840,637 bp from pter
End:
6,228,882 bp from pter
Size:
388,246 bases
Orientation:
Minus strand

Genomic View for NLGN4X Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NLGN4X Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLGN4X Gene

No data available for Regulatory Elements for NLGN4X Gene

Proteins for NLGN4X Gene

  • Protein details for NLGN4X Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N0W4-NLGNX_HUMAN
    Recommended name:
    Neuroligin-4, X-linked
    Protein Accession:
    Q8N0W4
    Secondary Accessions:
    • Q6UX10
    • Q9ULG0

    Protein attributes for NLGN4X Gene

    Size:
    816 amino acids
    Molecular mass:
    91915 Da
    Quaternary structure:
    • Homodimer. Interacts with NRXN1 in a calcium-dependent manner. Interacts through its C-terminus with DLG4/PSD-95 third PDZ domain.
    SequenceCaution:
    • Sequence=BAA86574.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NLGN4X Gene

    Alternative splice isoforms for NLGN4X Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLGN4X Gene

Proteomics data for NLGN4X Gene at MOPED

Post-translational modifications for NLGN4X Gene

  • Glycosylation at Asn102 and Asn511

Other Protein References for NLGN4X Gene

No data available for DME Specific Peptides for NLGN4X Gene

Domains for NLGN4X Gene

Protein Domains for NLGN4X Gene

UniProtKB/Swiss-Prot:

NLGNX_HUMAN
Family:
  • Belongs to the type-B carboxylesterase/lipase family.:
    • Q8N0W4
genes like me logo Genes that share domains with NLGN4X: view

No data available for Gene Families for NLGN4X Gene

Function for NLGN4X Gene

Molecular function for NLGN4X Gene

UniProtKB/Swiss-Prot Function: Putative neuronal cell surface protein involved in cell-cell-interactions

Gene Ontology (GO) - Molecular Function for NLGN4X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IBA --
GO:0005515 protein binding IPI 11368788
GO:0016787 hydrolase activity --
GO:0031404 chloride ion binding IDA 18093521
GO:0042043 neurexin family protein binding IPI 18093521
genes like me logo Genes that share ontologies with NLGN4X: view

Phenotypes for NLGN4X Gene

GenomeRNAi human phenotypes for NLGN4X:
genes like me logo Genes that share phenotypes with NLGN4X: view

miRNA for NLGN4X Gene

miRTarBase miRNAs that target NLGN4X

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for NLGN4X Gene

Localization for NLGN4X Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLGN4X Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NLGN4X Gene COMPARTMENTS Subcellular localization image for NLGN4X gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NLGN4X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 NOT extracellular space IBA --
GO:0005886 plasma membrane IDA 19726642
GO:0005887 integral component of plasma membrane IDA 11368788
GO:0009986 cell surface IDA 15150161
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with NLGN4X: view

Pathways for NLGN4X Gene

SuperPathways for NLGN4X Gene

genes like me logo Genes that share pathways with NLGN4X: view

Pathways by source for NLGN4X Gene

1 KEGG pathway for NLGN4X Gene

Gene Ontology (GO) - Biological Process for NLGN4X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003360 brainstem development ISS 18227507
GO:0007158 neuron cell-cell adhesion TAS 18923512
GO:0007612 learning IMP 12669065
GO:0008152 metabolic process IBA --
GO:0021549 cerebellum development ISS 18227507
genes like me logo Genes that share ontologies with NLGN4X: view

Transcripts for NLGN4X Gene

mRNA/cDNA for NLGN4X Gene

(10) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NLGN4X Gene

Neuroligin 4, X-linked:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NLGN4X Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10
SP1:
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - -
SP7: - - -
SP8: -
SP9:

Relevant External Links for NLGN4X Gene

GeneLoc Exon Structure for
NLGN4X
ECgene alternative splicing isoforms for
NLGN4X

Expression for NLGN4X Gene

mRNA expression in normal human tissues for NLGN4X Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NLGN4X Gene

SOURCE GeneReport for Unigene cluster for NLGN4X Gene Hs.21107

mRNA Expression by UniProt/SwissProt for NLGN4X Gene

Q8N0W4-NLGNX_HUMAN
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.
genes like me logo Genes that share expressions with NLGN4X: view

Orthologs for NLGN4X Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NLGN4X Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLGN4X 36
  • 99.47 (n)
  • 100 (a)
NLGN4X 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 99 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NLGN4 37
  • 96 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 95 (a)
OneToMany
chicken
(Gallus gallus)
Aves NLGN4 37
  • 94 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia NLGN4 37
  • 93 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii nlgn4a 36
  • 74.03 (n)
  • 84.44 (a)
nlgn4a 37
  • 81 (a)
ManyToMany
nlgn4b 37
  • 78 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU02679 36
  • 44.37 (n)
  • 31.2 (a)
Species with no ortholog for NLGN4X:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NLGN4X Gene

ENSEMBL:
Gene Tree for NLGN4X (if available)
TreeFam:
Gene Tree for NLGN4X (if available)

Paralogs for NLGN4X Gene

Paralogs for NLGN4X Gene

Selected SIMAP similar genes for NLGN4X Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NLGN4X: view

Variants for NLGN4X Gene

Sequence variations from dbSNP and Humsavar for NLGN4X Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs3723 -- 5,890,415(+) ATTCA(C/T)TTAAC utr-variant-3-prime
rs1300055 -- 5,937,695(+) CCTGG(G/T)GCACT intron-variant
rs1316392 -- 6,135,564(+) AAGCC(C/T)ACTGG intron-variant
rs1316825 -- 6,175,748(-) GTAAA(G/T)AGTTC intron-variant
rs1378387 -- 6,223,115(-) TTATA(A/G)TAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NLGN4X Gene

Variant ID Type Subtype PubMed ID
esv988822 CNV Gain 20482838
nsv522938 CNV Gain 19592680
nsv528749 CNV Gain 19592680
nsv526949 CNV Gain 19592680
nsv507943 CNV Insertion 20534489
nsv510523 CNV Loss 20534489
esv2662877 CNV Deletion 23128226
esv1398053 CNV Deletion 17803354
nsv520621 CNV Gain 19592680
nsv513718 OTHER Inversion 21212237
esv8448 OTHER Inversion 19470904
nsv513719 OTHER Inversion 21212237
esv33664 CNV Gain+Loss 17666407

Relevant External Links for NLGN4X Gene

HapMap Linkage Disequilibrium report
NLGN4X
Human Gene Mutation Database (HGMD)
NLGN4X
Locus Specific Mutation Databases (LSDB)
NLGN4X

Disorders for NLGN4X Gene

(2) OMIM Diseases for NLGN4X Gene (300427)

UniProtKB/Swiss-Prot

NLGNX_HUMAN
  • 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:0000269 PubMed:14963808}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for NLGN4X Gene

Disease -log(P) Hits PubMed IDs
autistic 76 12
mental retardation 60.4 10
pervasive developmental disorder 59.1 1

Relevant External Links for NLGN4X

GeneTests
NLGN4X
GeneReviews
NLGN4X
Genetic Association Database (GAD)
NLGN4X
Human Genome Epidemiology (HuGE) Navigator
NLGN4X
genes like me logo Genes that share disorders with NLGN4X: view

Publications for NLGN4X Gene

  1. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. (PMID: 12669065) Jamain S. … Van Maldergem L. (Nat. Genet. 2003) 3 4 23
  2. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. (PMID: 14963808) Laumonnier F. … Briault S. (Am. J. Hum. Genet. 2004) 3 4 23
  3. Analysis of the neuroligin 4Y gene in patients with autism. (PMID: 18628683) Yan J. … Sommer S.S. (Psychiatr. Genet. 2008) 3 23 49
  4. Positive association of neuroligin-4 gene with nonspecific mental retardation in the Qinba Mountains Region of China. (PMID: 19125102) Qi H. … Zhang F. (Psychiatr. Genet. 2009) 3 23 49
  5. A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population. (PMID: 19645625) Pampanos A. … Kitsiou-Tzeli S. (Genet Test Mol Biomarkers 2009) 3 23 49

Products for NLGN4X Gene

Sources for NLGN4X Gene

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