HLX H2.0 like homeobox [Homo sapiens (human)] - Gene

Summary

Official Symbol: HLXprovided by HGNC
Official Full Name: H2.0 like homeoboxprovided by HGNC
Primary source: HGNC:HGNC:4978
See related: Ensembl:ENSG00000136630 MIM:142995; AllianceGenome:HGNC:4978
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: HB24; HLX1
Summary: Enables sequence-specific DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including animal organ development; enteric nervous system development; and regulation of T-helper cell differentiation. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bone marrow (RPKM 18.6), fat (RPKM 10.7) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q41

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (220879443..220885059)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (220119233..220124841)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (221052785..221058401)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epstein-Barr virus (EBV) activates NKL homeobox gene HLX in DLBCL.
Title: Epstein-Barr virus (EBV) activates NKL homeobox gene HLX in DLBCL.
HLX has a role in coordinating metabolic interplay regulates myeloid differentiation both in zebrafish and human hematopoietic stem and progenitor cells and in acute myeloid leukemia through partly overlapping pathways
Title: A metabolic interplay coordinated by HLX regulates myeloid differentiation and AML through partly overlapping pathways.
An important association between HLX transcription factor expression and abnormal human placental development in discordant twin pregnancies.
Title: Expression of Homeobox Gene HLX and its Downstream Target Genes are Altered in Placentae From Discordant Twin Pregnancies.
HLX is a homeobox transcription factor gene which is relatively conserved across species. Hlx homozygous null mice have a short bowel and reduced muscle cells in the diaphragm, closely resembling the anomalies in the two fetuses and we therefore suggest that the HLX mutation in this family could explain the fetal findings
Title: HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Two differentiation-related genes, HHEX and HLX, are promoters of early phase reprogramming toward pluripotency.
Title: Screening of Human cDNA Library Reveals Two differentiation-Related Genes, HHEX and HLX, as Promoters of Early Phase Reprogramming toward Pluripotency.
Prdm16 interacts with the transcription factor Hlx, which is stabilized in response to beta3-adrenergic signaling, to increase thermogenic gene expression and mitochondrial biogenesis in subcutaneous WAT.
Title: Transcription factor Hlx controls a systematic switch from white to brown fat through Prdm16-mediated co-activation.
HLX1 is significantly downregulated in HCC and suggests that HLX1 has suppressive effects on HCC growth and metastasis. Accordingly, HLX1 may act as a tumor suppressor in HCC.
Title: H2.0-like homeobox 1 acts as a tumor suppressor in hepatocellular carcinoma.
Studies have identified HLX as a novel key transcription factor involved in the regulation of early hematopoiesis and AML pathogenesis.
Title: HLX in AML: novel prognostic and therapeutic target.
The expression levels of Hlx, T-bet, and IFN-gamma were significantly decreased.
Title: Downregulation of Hlx closely related to the decreased expressions of T-bet and Runx3 in patients with gastric cancer may be associated with a pathological event leading to the imbalance of Th1/Th2.
Data suggest that HLX1 is downstream mediator of hepatocyte growth factor- (HGF-) induced cell survival, cell proliferation, and invasive properties of trophoblast cells; thus, both HGF and HLX1 appear to be involved in normal placental development.
Title: Hepatocyte growth factor regulates HLX1 gene expression to modulate HTR-8/SVneo trophoblast cells.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:491273

SHGC-32821 (e-PCR)
- UniSTS:57997

GDB:251518 (e-PCR)
- UniSTS:156308

HLX1_2251 (e-PCR)
- UniSTS:280754

fb33b12.x1 (e-PCR)
- UniSTS:190403

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in T-helper 1 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in T-helper 2 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in embryonic digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in enteric nervous system development	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of T-helper 2 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in organ growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T-helper 1 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of organ growth	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: H2.0-like homeobox protein

Names: H2.0-like homeo box-1; H2.0-like homeobox 1; homeobox protein HB24; homeobox protein HLX1

NCBI Reference Sequences (RefSeq)

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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.