LHX8 LIM homeobox 8 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 1p31.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (75128434..75199454)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (74970280..75041301)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (75594119..75627218)

Chromosome 1 - NC_000001.11 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 8 reduced apoptosis and promoted periodontal tissue regeneration function of dental pulp stem cells.
Title: LIM homeobox 8 reduced apoptosis and promoted periodontal tissue regeneration function of dental pulp stem cells.
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.
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.
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.
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.
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.
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.
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.
Mutations in the LHX8 exons are uncommon in Caucasian women with premature ovarian failure.
Title: Analysis of LHX8 mutation in premature ovarian failure.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-149363 (e-PCR)
- UniSTS:176963

SHGC-6203 (e-PCR)
- UniSTS:66968

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
located_in 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)

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
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