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LHX8 LIM homeobox 8 [ Homo sapiens (human) ]

Gene ID: 431707, updated on 1-Jun-2020

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
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

Genomic context

See LHX8 in Genome Data Viewer
Location:
1p31.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (75128434..75199454)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (75594119..75627218)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene crystallin zeta Neighboring gene tRNA-yW synthesizing protein 3 homolog Neighboring gene Sharpr-MPRA regulatory region 8849 Neighboring gene RNA, U6 small nuclear 622, pseudogene Neighboring gene solute carrier family 44 member 5 Neighboring gene G protein nucleolar 3 pseudogene Neighboring gene RNA, U6 small nuclear 503, pseudogene

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
female gonad development IEA
Inferred from Electronic Annotation
more info
 
forebrain neuron development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
learning or memory IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
female germ cell nucleus IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
LIM/homeobox protein Lhx8
Names
LIM-homeodomain protein Lhx8

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_001001933.1NP_001001933.1  LIM/homeobox protein Lhx8 isoform 1

    See identical proteins and their annotated locations for NP_001001933.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC099786, BC040321
    Consensus CDS
    CCDS30756.1
    UniProtKB/Swiss-Prot
    Q68G74
    Related
    ENSP00000294638.5, ENST00000294638.9
    Conserved Domains (3) summary
    cd09381
    Location:74129
    LIM1_Lhx7_Lhx8; The first LIM domain of Lhx7 and Lhx8
    cd09383
    Location:136190
    LIM2_Lhx7_Lhx8; The second LIM domain of Lhx7 and Lhx8
    smart00389
    Location:226281
    HOX; Homeodomain
  2. NM_001256114.2NP_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, ENST00000356261.3
    Conserved Domains (3) summary
    cd09381
    Location:64119
    LIM1_Lhx7_Lhx8; The first LIM domain of Lhx7 and Lhx8
    cd09383
    Location:126180
    LIM2_Lhx7_Lhx8; The second LIM domain of Lhx7 and Lhx8
    smart00389
    Location:216271
    HOX; Homeodomain

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

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

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