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    NLGN4X neuroligin 4, X-linked [ Homo sapiens (human) ]

    Gene ID: 57502, updated on 9-Apr-2017
    Official Symbol
    NLGN4Xprovided by HGNC
    Official Full Name
    neuroligin 4, X-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:14287
    See related
    Ensembl:ENSG00000146938 MIM:300427; Vega:OTTHUMG00000021093
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HLNX; HNL4X; NLGN4; ASPGX2; AUTSX2
    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]
    Orthologs
    Location:
    Xp22.32-p22.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (5890026..6228882, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (5808067..6146916, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit pseudogene Neighboring gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit pseudogene Neighboring gene uncharacterized LOC101928228 Neighboring gene uncharacterized LOC105373156 Neighboring gene microRNA 4770 Neighboring gene ribosomal protein S5 pseudogene 8

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Asperger syndrome X-linked 2
    MedGen: C1845334 OMIM: 300497 GeneReviews: Not available
    Compare labs
    Autism, susceptibility to, X-linked 2
    MedGen: C1845539 OMIM: 300495 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
      Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
      Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1260, MGC22376

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carboxylic ester hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell adhesion molecule binding TAS
    Traceable Author Statement
    more info
    PubMed 
    chloride ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurexin family protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurexin family protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adult behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    brainstem development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cell-cell junction organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cerebellum development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of excitatory postsynaptic potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron cell-cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    organ growth ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    presynaptic membrane assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    synapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    synapse organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    vocalization behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vocalization behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    excitatory synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008881.2 RefSeqGene

      Range
      5001..343857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282145.1NP_001269074.1  neuroligin-4, X-linked

      See identical proteins and their annotated locations for NP_001269074.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AC078989, AC079173, AK055471, CN357526
      Consensus CDS
      CCDS14126.1
      UniProtKB/Swiss-Prot
      Q8N0W4
      UniProtKB/TrEMBL
      A0A024RBV0, B3KP11
      Related
      ENSP00000370482.1, OTTHUMP00000022864, ENST00000381092.1, OTTHUMT00000055672
      Conserved Domains (2) summary
      COG0657
      Location:151266
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42590
      COesterase; Carboxylesterase family
    2. NM_001282146.1NP_001269075.1  neuroligin-4, X-linked

      See identical proteins and their annotated locations for NP_001269075.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 3. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AB033086, AC078989, AK291036, DA724500
      Consensus CDS
      CCDS14126.1
      UniProtKB/Swiss-Prot
      Q8N0W4
      UniProtKB/TrEMBL
      A0A024RBV0, A8K4S1
      Related
      ENSP00000370483.3, ENST00000381093.6
      Conserved Domains (2) summary
      COG0657
      Location:151266
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42590
      COesterase; Carboxylesterase family
    3. NM_020742.3NP_065793.1  neuroligin-4, X-linked

      See identical proteins and their annotated locations for NP_065793.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 3. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AB033086, AC078989, AC112654
      Consensus CDS
      CCDS14126.1
      UniProtKB/Swiss-Prot
      Q8N0W4
      UniProtKB/TrEMBL
      A0A024RBV0
      Related
      ENSP00000275857.6, OTTHUMP00000022863, ENST00000275857.10, OTTHUMT00000055670
      Conserved Domains (2) summary
      COG0657
      Location:151266
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42590
      COesterase; Carboxylesterase family
    4. NM_181332.2NP_851849.1  neuroligin-4, X-linked

      See identical proteins and their annotated locations for NP_851849.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 3. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AB033086, AC078989, CN357526
      Consensus CDS
      CCDS14126.1
      UniProtKB/Swiss-Prot
      Q8N0W4
      UniProtKB/TrEMBL
      A0A024RBV0
      Related
      ENSP00000370485.3, OTTHUMP00000022865, ENST00000381095.7, OTTHUMT00000055673
      Conserved Domains (2) summary
      COG0657
      Location:151266
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42590
      COesterase; Carboxylesterase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      5890026..6228882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274564.2XP_005274621.1  neuroligin-4, X-linked isoform X1

      See identical proteins and their annotated locations for XP_005274621.1

      UniProtKB/Swiss-Prot
      Q8N0W4
      Conserved Domains (2) summary
      COG0657
      Location:179286
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42610
      COesterase; Carboxylesterase family
    2. XM_011545548.2XP_011543850.1  neuroligin-4, X-linked isoform X1

      See identical proteins and their annotated locations for XP_011543850.1

      UniProtKB/Swiss-Prot
      Q8N0W4
      Conserved Domains (2) summary
      COG0657
      Location:179286
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42610
      COesterase; Carboxylesterase family
    3. XM_017029691.1XP_016885180.1  neuroligin-4, X-linked isoform X2

      UniProtKB/Swiss-Prot
      Q8N0W4
      UniProtKB/TrEMBL
      A0A024RBV0
      Conserved Domains (2) summary
      COG0657
      Location:151266
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42590
      COesterase; Carboxylesterase family
    4. XM_011545547.2XP_011543849.1  neuroligin-4, X-linked isoform X1

      See identical proteins and their annotated locations for XP_011543849.1

      UniProtKB/Swiss-Prot
      Q8N0W4
      Conserved Domains (2) summary
      COG0657
      Location:179286
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42610
      COesterase; Carboxylesterase family
    5. XM_005274565.2XP_005274622.1  neuroligin-4, X-linked isoform X1

      See identical proteins and their annotated locations for XP_005274622.1

      UniProtKB/Swiss-Prot
      Q8N0W4
      Conserved Domains (2) summary
      COG0657
      Location:179286
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42610
      COesterase; Carboxylesterase family
    6. XM_017029692.1XP_016885181.1  neuroligin-4, X-linked isoform X2

      UniProtKB/Swiss-Prot
      Q8N0W4
      UniProtKB/TrEMBL
      A0A024RBV0
      Conserved Domains (2) summary
      COG0657
      Location:151266
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42590
      COesterase; Carboxylesterase family
    7. XM_005274566.4XP_005274623.1  neuroligin-4, X-linked isoform X1

      See identical proteins and their annotated locations for XP_005274623.1

      UniProtKB/Swiss-Prot
      Q8N0W4
      Conserved Domains (2) summary
      COG0657
      Location:179286
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42610
      COesterase; Carboxylesterase family
    8. XM_017029693.1XP_016885182.1  neuroligin-4, X-linked isoform X2

      UniProtKB/Swiss-Prot
      Q8N0W4
      UniProtKB/TrEMBL
      A0A024RBV0
      Conserved Domains (2) summary
      COG0657
      Location:151266
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42590
      COesterase; Carboxylesterase family
    9. XM_017029690.1XP_016885179.1  neuroligin-4, X-linked isoform X1

      UniProtKB/Swiss-Prot
      Q8N0W4
      Related
      ENSP00000439203.2, ENST00000538097.5
      Conserved Domains (2) summary
      COG0657
      Location:179286
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42610
      COesterase; Carboxylesterase family
    10. XM_006724504.3XP_006724567.1  neuroligin-4, X-linked isoform X1

      See identical proteins and their annotated locations for XP_006724567.1

      UniProtKB/Swiss-Prot
      Q8N0W4
      Conserved Domains (2) summary
      COG0657
      Location:179286
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:42610
      COesterase; Carboxylesterase family

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      5839610..6178287 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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