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    TLX3 T cell leukemia homeobox 3 [ Homo sapiens (human) ]

    Gene ID: 30012, updated on 17-Jun-2019

    Summary

    Official Symbol
    TLX3provided by HGNC
    Official Full Name
    T cell leukemia homeobox 3provided by HGNC
    Primary source
    HGNC:HGNC:13532
    See related
    Ensembl:ENSG00000164438 MIM:604640
    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
    RNX; HOX11L2
    Summary
    The protein encoded by this gene is an orphan homeobox protein that encodes a DNA-binding nuclear transcription factor. A translocation [t(5;14)(q35;q32)] involving this gene is associated with T-cell acute lymphoblastic leukemia (T-ALL) in children and young adults. [provided by RefSeq, Nov 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See TLX3 in Genome Data Viewer
    Location:
    5q35.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (171309248..171312139)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (170736288..170739138)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RAN binding protein 17 Neighboring gene VISTA enhancer hs278 Neighboring gene ubiquitin specific peptidase 12 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 339, pseudogene Neighboring gene ribosomal protein L19 pseudogene 10

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2018-09-25)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2018-09-25)

    ClinGen Genome Curation Page

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Clone Names

    • MGC29804

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    central nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    neuron fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of respiratory gaseous exchange by neurological system process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    respiratory gaseous exchange IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    T-cell leukemia homeobox protein 3
    Names
    homeo box 11-like 2
    homeobox protein Hox-11L2

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_021025.4NP_066305.2  T-cell leukemia homeobox protein 3

      See identical proteins and their annotated locations for NP_066305.2

      Status: REVIEWED

      Source sequence(s)
      AC091980, BC017291
      Consensus CDS
      CCDS34288.1
      UniProtKB/Swiss-Prot
      O43711
      Related
      ENSP00000296921.5, ENST00000296921.6
      Conserved Domains (1) summary
      pfam00046
      Location:169222
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      171309248..171312139
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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