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    NEXMIF neurite extension and migration factor [ Homo sapiens (human) ]

    Gene ID: 340533, updated on 27-Nov-2024

    Summary

    Official Symbol
    NEXMIFprovided by HGNC
    Official Full Name
    neurite extension and migration factorprovided by HGNC
    Primary source
    HGNC:HGNC:29433
    See related
    Ensembl:ENSG00000050030 MIM:300524; AllianceGenome:HGNC:29433
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    XPN; MRX98; KIDLIA; XLID98; KIAA2022
    Summary
    An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]
    Expression
    Biased expression in brain (RPKM 2.3), adrenal (RPKM 0.6) and 12 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NEXMIF in Genome Data Viewer
    Location:
    Xq13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (74732856..74925452, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (73166463..73359096, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (73952691..74145287, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29767 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 3 Neighboring gene ring finger protein, LIM domain interacting Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:73915317-73916516 Neighboring gene RNA, U6 small nuclear 330, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:74097925-74098468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:74098469-74099012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20907 Neighboring gene ATP binding cassette subfamily B member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29770 Neighboring gene uracil phosphoribosyltransferase homolog Neighboring gene BUD31 homolog pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Non-syndromic X-linked intellectual disability
    MedGen: C3501611 GeneReviews: Not available
    Compare labs
    X-linked intellectual disability, Cantagrel type
    MedGen: C3806730 OMIM: 300912 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-06-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-06-26)

    ClinGen Genome Curation PagePubMed

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of cell adhesion mediated by integrin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of cell-cell adhesion mediated by cadherin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of cell-matrix adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in midbody IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    neurite extension and migration factor
    Names
    XLMR protein related to neurite extension
    XLMR-related protein, neurite extension

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_027726.1 RefSeqGene

      Range
      5001..197597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008537.3NP_001008537.1  neurite extension and migration factor

      See identical proteins and their annotated locations for NP_001008537.1

      Status: VALIDATED

      Source sequence(s)
      AI167637, AL139395, AY563507, DA776009
      Consensus CDS
      CCDS35337.1
      UniProtKB/Swiss-Prot
      A7YY87, Q5JUX9, Q5QGS0, Q8IVE9
      UniProtKB/TrEMBL
      A0A2R8YEQ5
      Related
      ENSP00000055682.5, ENST00000055682.12
      Conserved Domains (1) summary
      pfam15735
      Location:284690
      DUF4683; Domain of unknown function (DUF4683)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      74732856..74925452 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      73166463..73359096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)