LHX2 LIM homeobox 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LHX2provided by HGNC
Official Full Name: LIM homeobox 2provided by HGNC
Primary source: HGNC:HGNC:6594
See related: Ensembl:ENSG00000106689 MIM:603759; AllianceGenome:HGNC:6594
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: LH2; hLhx2
Summary: This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 8.5), placenta (RPKM 1.0) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (124011768..124033301)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (136209686..136231219)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (126774047..126795580)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

LIM Homeobox 2 Increases Adhesion-Regulating Molecule 1 Transcription to Facilitate the Pathological Progression of Oxidized Low-Density Lipoprotein-Stimulated Atherosclerotic Cell Models.
Title: LIM Homeobox 2 Increases Adhesion-Regulating Molecule 1 Transcription to Facilitate the Pathological Progression of Oxidized Low-Density Lipoprotein-Stimulated Atherosclerotic Cell Models.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Title: LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration.
Title: The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration.
LHX2 facilitates the progression of nasopharyngeal carcinoma via activation of the FGF1/FGFR axis.
Title: LHX2 facilitates the progression of nasopharyngeal carcinoma via activation of the FGF1/FGFR axis.
REGgamma regulates hair cycle by activating Lgr5 positive hair follicle stem cells.
Title: REGγ regulates hair cycle by activating Lgr5 positive hair follicle stem cells.
LHX2 promotes malignancy and inhibits autophagy via mTOR in osteosarcoma and is negatively regulated by miR-129-5p.
Title: LHX2 promotes malignancy and inhibits autophagy via mTOR in osteosarcoma and is negatively regulated by miR-129-5p.
LIM homeobox 2 promotes interaction between human iPS-derived hepatic progenitors and iPS-derived hepatic stellate-like cells.
Title: LIM homeobox 2 promotes interaction between human iPS-derived hepatic progenitors and iPS-derived hepatic stellate-like cells.
These data indicate that Lhx2 is capable of blocking proliferation of T-ALL-derived cells by both LMO2-dependent and -independent means. We propose Lhx2 as a new molecular tool for anti-T-ALL drug development.
Title: Overexpression of Lhx2 suppresses proliferation of human T cell acute lymphoblastic leukemia-derived cells, partly by reducing LMO2 protein levels.
Findings demonstrate that miR-1238 inhibit the proliferation of NSCLC cells at least partly via repression of LHX2, shedding light on the mechanistic interaction of miR-1238 and LHX2 in NSCLC carcinogenesis.
Title: miR-1238 inhibits cell proliferation by targeting LHX2 in non-small cell lung cancer.
Results show that LHX2 is overexpressed in pancreatic ductal adenocarcinoma cells and is involved in promoting cancer cell proliferation and enhanced tumor development.
Title: Oncogenicity of LHX2 in pancreatic ductal adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Genome-wide association of body fat distribution in African ancestry populations suggests new loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

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

NIB1517 (e-PCR)
- UniSTS:49255

LHX2_2239 (e-PCR)
- UniSTS:280821

NoName (e-PCR)
- UniSTS:484345

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon extension	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in dorsal/ventral pattern formation	IEA Inferred from Electronic Annotation more info
involved_in hair follicle development	IEA Inferred from Electronic Annotation more info
involved_in maintenance of epithelial cell apical/basal polarity	IEA Inferred from Electronic Annotation more info
involved_in mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression, epigenetic	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in neural tube closure	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in olfactory bulb development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neural precursor cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in telencephalon regionalization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: LIM/homeobox protein Lhx2

Names: LIM HOX gene 2; LIM homeobox protein 2; homeobox protein LH-2

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.

mRNA and Protein(s)

NM_004789.4 → NP_004780.3 LIM/homeobox protein Lhx2

See identical proteins and their annotated locations for NP_004780.3

Status: REVIEWED

Source sequence(s)

AC006450, AL158052

Consensus CDS

CCDS6853.1

UniProtKB/Swiss-Prot

O95860, P50458, Q52M57, Q8N1Z3

UniProtKB/TrEMBL

B3KNJ5

Related

ENSP00000362717.4, ENST00000373615.9

Conserved Domains (4) summary

cd09377
Location:111 → 169

LIM2_Lhx2_Lhx9; The second LIM domain of Lhx2 and Lhx9 family

cd09469
Location:43 → 106

LIM1_Lhx2; The first LIM domain of Lhx2

COG5576
Location:247 → 378

COG5576; Homeodomain-containing transcription factor [Transcription]

pfam00046
Location:270 → 323

Homeobox; Homeobox domain

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

124011768..124033301

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006717323.4 → XP_006717386.1 LIM/homeobox protein Lhx2 isoform X1

See identical proteins and their annotated locations for XP_006717386.1

Conserved Domains (3) summary

cd09377
Location:111 → 169

LIM2_Lhx2_Lhx9; The second LIM domain of Lhx2 and Lhx9 family

cd09469
Location:43 → 106

LIM1_Lhx2; The first LIM domain of Lhx2

smart00389
Location:266 → 311

HOX; Homeodomain
XM_047424082.1 → XP_047280038.1 LIM/homeobox protein Lhx2 isoform X1