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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

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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