LHX8 (LIM homeobox 8)

Gene

• Entrez ID: 431707
• Gene name: LIM homeobox 8
• Gene symbol: LHX8
• Synonyms (NCBI Gene): LHX7
• Chromosome: 1
• Chromosome location: 1p31.1
• 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 a

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2030147	hsa-miR-30a	CLIP-seq
MIRT2030148	hsa-miR-30b	CLIP-seq
MIRT2030149	hsa-miR-30c	CLIP-seq
MIRT2030150	hsa-miR-30d	CLIP-seq
MIRT2030151	hsa-miR-30e	CLIP-seq
MIRT2030152	hsa-miR-513b	CLIP-seq
MIRT2030147	hsa-miR-30a	CLIP-seq
MIRT2030148	hsa-miR-30b	CLIP-seq
MIRT2030149	hsa-miR-30c	CLIP-seq
MIRT2030150	hsa-miR-30d	CLIP-seq
MIRT2030151	hsa-miR-30e	CLIP-seq
MIRT2261033	hsa-miR-4760-3p	CLIP-seq
MIRT2390138	hsa-miR-3129-3p	CLIP-seq
MIRT2030152	hsa-miR-513b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 32296183, 32814053, 33961781, 35140242
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0021884	Process	Forebrain neuron development	IBA
GO:0030182	Process	Neuron differentiation	IBA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 604425
• HGNC: 28838
• e!Ensembl: ENSG00000162624

Protein

• UniProt ID: Q68G74
• Protein name: LIM/homeobox protein Lhx8 (LIM homeobox protein 8)
• Protein function: Transcription factor involved in differentiation of certain neurons and mesenchymal cells.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00412	LIM	75 → 132	LIM domain	Domain
  PF00412	LIM	136 → 193	LIM domain	Domain
  PF00046	Homeodomain	226 → 282	Homeodomain	Domain

• Sequence:

  MQILSRCQGLMSEECGRTTALAAGRTRKGAGEEGLVSPEGAGDEDSCSSSAPLSPSSSPR
  SMASGSGCPPGKCVCNSCGLEIVDKYLLKVNDLCWHVRCLSCSVCRTSLGRHTSCYIKDK
  DIFCKLDYFRRYGTRCSRCGRHIHSTDWVRRAKGNVYHLACFACFSCKRQLSTGEEFALV
  EEKVLCRVHYDCMLDNLKREVENGNGISVEGALLTEQDVNHPKPAKRARTSFTADQLQVM
  QAQFAQDNNPDAQTLQKLAERTGLSRRVIQVWFQNCRARHKKHVSPNHSSSTPVTAVPPS
  RLSPPMLEEMAYSAYVPQDGTMLTALHSYMDAHSPTTLGLQPLLPHSMTQLPISHT

• Sequence length: 356

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LHX8-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma	Carcinoma	BEFREE	30101434		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30101434		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	30101434		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30101434		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	16327884, 29162626	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	16327884, 30870065	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	23860042	Associate	★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	22435649		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	36151370	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	28089945		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30101434		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	17624344		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	LHGDN	17624344		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	17624344		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	33846517	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34558659, 36366827	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30101434, 32171935, 36366827	Associate	★☆☆☆☆ Found in Text Mining only