Gene: Lhx8

Basic information

Tag Content
Uniprot ID O35652; O70163; O88707; Q3TMT2;
Entrez ID 16875
Genbank protein ID EDL11894.1; AAI25284.1; AAI25282.1; BAA28628.1; CAA04012.1; BAE38359.1; BAA21649.1; AAI44769.1;
Genbank nucleotide ID NM_010713.2
Ensembl protein ID ENSMUSP00000136047
Ensembl nucleotide ID ENSMUSG00000096225
Gene name LIM/homeobox protein Lhx8
Gene symbol Lhx8
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E14.5
Data sources Manually collected
Reference 10611327; 19591819; 15217369;
Functional description Transcription factor involved in differentiation of certain neurons and mesenchymal cells.
Sequence
MYWKSDQMFV CKLEGKEVPE LAVPREKCPG LMSEECGRPA ALAAGRTRKG AGEEGLVNPE 60
GAGDEDSCSS SAPLSPSSSP QSMASGSVCP PGKCVCSSCG LEIVDKYLLK VNDLCWHVRC 120
LSCSVCRTSL GRHTSCYIKD KDIFCKLDYF RRYGTRCSRC GRHIHSTDWV RRAKGNVYHL 180
ACFACFSCKR QLSTGEEFAL VEEKVLCRVH FDCMLDNLKR EVENGNGISV EGALLTEQDV 240
NHPKPAKRAR TSFTADQLQV MQAQFAQDNN PDAQTLQKLA ERTGLSRRVI QVWFQNCRAR 300
HKKHVSPNHS SSAPVTAVPS SRLSPPMLEE MAYSAYVPQD GTMLTALHSY MDAHQQLLDS 360
SPCYPIQ 367

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologLHX8431707Q68G74Homo sapiensPublicationMore>>
1:1 orthologLhx816875O35652CPOE14.5Mus musculusPublicationMore>>
1:1 orthologLHX8469353H2R2T0Pan troglodytesPredictionMore>>
1:1 orthologLhx8365963G3V6V6Rattus norvegicusPredictionMore>>
1:1 orthologlhx8aA5PMV8Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
LHX8haplotype combination rs17565565C/rs6593568AGenotyping21462296

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIBA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0046872 metal ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0007611 learning or memoryIMP
GO:0008585 female gonad developmentIMP
GO:0021879 forebrain neuron differentiationIMP
GO:0021884 forebrain neuron developmentIGI
GO:0021884 forebrain neuron developmentIBA
GO:0030182 neuron differentiationIBA
GO:0042475 odontogenesis of dentin-containing toothIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIIBA

GO:Cellular Component

GO ID GO Term Evidence
GO:0001674 female germ cell nucleusIDA
GO:0005634 nucleusIBA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0238 DNA-binding
KW-0371 Homeobox
KW-0440 LIM domain
KW-0479 Metal-binding
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0677 Repeat
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0862 Zinc

Interpro

InterPro ID InterPro Term
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR001781 Znf_LIM

PROSITE

PROSITE ID PROSITE Term
PS00027 HOMEOBOX_1
PS50071 HOMEOBOX_2
PS00478 LIM_DOMAIN_1
PS50023 LIM_DOMAIN_2

Pfam

Pfam ID Pfam Term
PF00046 Homeodomain
PF00412 LIM

Protein-miRNA interaction