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LHX8 LIM homeobox 8 [ Homo sapiens (human) ]

Gene ID: 431707, updated on 5-Mar-2024

Summary

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Official Symbol
LHX8provided by HGNC
Official Full Name
LIM homeobox 8provided by HGNC
Primary source
HGNC:HGNC:28838
See related
Ensembl:ENSG00000162624 MIM:604425; AllianceGenome:HGNC:28838
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
LHX7
Summary
The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
1p31.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (75128434..75199454)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (74970280..75041301)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (75594119..75627218)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:75187729-75188286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1199 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:75198416-75199126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1201 Neighboring gene crystallin zeta Neighboring gene NANOG hESC enhancer GRCh37_chr1:75311356-75311857 Neighboring gene tRNA-yW synthesizing protein 3 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:75342688-75343188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:75343189-75343689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:75417464-75418002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:75452641-75453140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:75548004-75548706 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:75548707-75549409 Neighboring gene Sharpr-MPRA regulatory region 8849 Neighboring gene MPRA-validated peak288 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:75597021-75598220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:75600378-75600890 Neighboring gene LHX8 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 622, pseudogene Neighboring gene solute carrier family 44 member 5 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:75841149-75842348 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:75842759-75843540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:75942295-75942795 Neighboring gene MPRA-validated peak289 silencer Neighboring gene G protein nucleolar 3 pseudogene Neighboring gene RNA, U6 small nuclear 503, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Single-cell profiling of lncRNAs in human germ cells and molecular analysis reveals transcriptional regulation of LNC1845 on LHX8. Wang N, et al. Elife, 2023 Jan 5. PMID 36602025, Free PMC Article
  2. Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest. Zhao L, et al. Genet Med, 2022 Nov. PMID 36029299
  3. Pharmacological modulation of the Hedgehog pathway differentially affects dorsal/ventral patterning in mouse and human embryonic stem cell models of telencephalic development. Nat R, et al. Stem Cells Dev, 2012 May 1. PMID 22204396
  4. Oogenesis: transcriptional regulators and mouse models. Jagarlamudi K, et al. Mol Cell Endocrinol, 2012 Jun 5. PMID 21856374
  5. Comparative study of LHX8 expression between odontoma and dental tissue-derived stem cells. Kim JY, et al. J Oral Pathol Med, 2011 Mar. PMID 21143530

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Validation of ASCL1 and LHX8 Methylation Analysis as Primary Cervical Cancer Screening Strategy in South African Women with Human Immunodeficiency Virus.
    Title: Validation of ASCL1 and LHX8 Methylation Analysis as Primary Cervical Cancer Screening Strategy in South African Women with Human Immunodeficiency Virus.
  2. Single-cell profiling of lncRNAs in human germ cells and molecular analysis reveals transcriptional regulation of LNC1845 on LHX8.
    Title: Single-cell profiling of lncRNAs in human germ cells and molecular analysis reveals transcriptional regulation of LNC1845 on LHX8.
  3. Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest.
    Title: Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest.
  4. Posttreatment monitoring by ASCL1/LHX8 methylation analysis in women with HIV treated for cervical intraepithelial neoplasia grade 2/3.
    Title: Posttreatment monitoring by ASCL1/LHX8 methylation analysis in women with HIV treated for cervical intraepithelial neoplasia grade 2/3.
  5. Increasing Lhx8 expression in neuronal cell lines also increased acetylcholine release.
    Title: Upregulation of Lhx8 increase VAChT expression and ACh release in neuronal cell line SHSY5Y.
  6. Our tagging-single nucleotide polymorphism (tSNP)-based association analysis was negative for Tourette syndrome association with LHX8.
    Title: Evaluation of the LIM homeobox genes LHX6 and LHX8 as candidates for Tourette syndrome.
  7. LHX8 might play an important role in odontoma formation. This is 1st report on comparison of LHX8 expression between human odontoma-derived mesenchymal cells and normal adult dental mesenchymal stem cells and its overexpression in human samples.
    Title: Comparative study of LHX8 expression between odontoma and dental tissue-derived stem cells.
  8. Mutations in the LHX8 exons are uncommon in Caucasian women with premature ovarian failure.
    Title: Analysis of LHX8 mutation in premature ovarian failure.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
  10. Sohlh1 and Lhx8 are two germ cell-specific, critical regulators of oogenesis
    Title: Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in female gonad development IEA
Inferred from Electronic Annotation
more info
  
involved_in forebrain neuron development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in learning or memory IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in odontogenesis of dentin-containing tooth 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
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in female germ cell nucleus IEA
Inferred from Electronic Annotation
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 Lhx8
Names
LIM-homeodomain protein Lhx8

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)

  1. NM_001001933.1 → NP_001001933.1  LIM/homeobox protein Lhx8 isoform 1

    See identical proteins and their annotated locations for NP_001001933.1

    Status: REVIEWED

    Source sequence(s)
    AC099786, BC040321
    Consensus CDS
    CCDS30756.1
    UniProtKB/Swiss-Prot
    E9PGE3, Q68G74
    Related
    ENSP00000294638.5, ENST00000294638.9
    Conserved Domains (3) summary
    cd09381
    Location:74 → 129
    LIM1_Lhx7_Lhx8; The first LIM domain of Lhx7 and Lhx8
    cd09383
    Location:136 → 190
    LIM2_Lhx7_Lhx8; The second LIM domain of Lhx7 and Lhx8
    pfam00046
    Location:229 → 282
    Homeobox; Homeobox domain

  2. NM_001256114.2 → NP_001243043.1  LIM/homeobox protein Lhx8 isoform 2

    See identical proteins and their annotated locations for NP_001243043.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC099786, BC036423, BC040321
    Consensus CDS
    CCDS58008.1
    UniProtKB/Swiss-Prot
    Q68G74
    Related
    ENSP00000348597.3, ENST00000356261.4
    Conserved Domains (3) summary
    cd09381
    Location:64 → 119
    LIM1_Lhx7_Lhx8; The first LIM domain of Lhx7 and Lhx8
    cd09383
    Location:126 → 180
    LIM2_Lhx7_Lhx8; The second LIM domain of Lhx7 and Lhx8
    pfam00046
    Location:219 → 272
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    75128434..75199454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001316.2 → XP_016856805.1  LIM/homeobox protein Lhx8 isoform X1

  2. XM_017001317.2 → XP_016856806.1  LIM/homeobox protein Lhx8 isoform X1

  3. XM_047421040.1 → XP_047276996.1  LIM/homeobox protein Lhx8 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    74970280..75041301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336668.1 → XP_054192643.1  LIM/homeobox protein Lhx8 isoform X1

  2. XM_054336669.1 → XP_054192644.1  LIM/homeobox protein Lhx8 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q68G74.2 GenPept UniProtKB/Swiss-Prot:Q68G74

Gene LinkOut

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