Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9355
Gene name	LIM homeobox 2
Gene symbol	LHX2
Synonyms (NCBI Gene)	LH2hLhx2
Chromosome	9
Chromosome location	9q33.3
Summary	This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phe

Show/Hide all (13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022169	hsa-miR-124-3p	Microarray	18668037
MIRT042689	hsa-miR-196b-5p	CLASH	23622248
MIRT734416	hsa-miR-1238-3p	Immunohistochemistry (IHC)Luciferase reporter assayMicroarrayqRT-PCRWestern blotting	32526477
MIRT735618	hsa-miR-409-3p	Immunohistochemistry (IHC)qRT-PCR	32040954
MIRT735620	hsa-miR-409-5p	Immunohistochemistry (IHC)qRT-PCR	32040954
MIRT1108985	hsa-miR-185	CLIP-seq
MIRT1108986	hsa-miR-3919	CLIP-seq
MIRT1108987	hsa-miR-4306	CLIP-seq
MIRT1108988	hsa-miR-4419a	CLIP-seq
MIRT1108989	hsa-miR-4510	CLIP-seq
MIRT1108990	hsa-miR-4644	CLIP-seq
MIRT1108991	hsa-miR-4797-5p	CLIP-seq
MIRT1108992	hsa-miR-583	CLIP-seq

Show/Hide all (40)

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:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	20211142, 32296183, 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:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007420	Process	Brain development	IEA
GO:0007498	Process	Mesoderm development	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030182	Process	Neuron differentiation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045199	Process	Maintenance of epithelial cell apical/basal polarity	IEA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048675	Process	Axon extension	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA

MIM	HGNC	e!Ensembl
603759	6594	ENSG00000106689

P50458

Protein name

LIM/homeobox protein Lhx2 (Homeobox protein LH-2) (LIM homeobox protein 2)

Protein function

Acts as a transcriptional activator. Stimulates the promoter of the alpha-glycoprotein gene. Transcriptional regulatory protein involved in the control of cell differentiation in developing lymphoid and neural cell types (By similarity). {ECO:00

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00412	LIM	53 → 110	LIM domain	Domain
PF00412	LIM	115 → 172	LIM domain	Domain
PF00046	Homeodomain	267 → 323	Homeodomain	Domain

Sequence

MLFHSLSGPEVHGVIDEMDRRAKSEAPAISSAIDRGDTETTMPSISSDRAALCAGCGGKI
SDRYYLLAVDKQWHMRCLKCCECKLNLESELTCFSKDGSIYCKEDYYRRFSVQRCARCHL
GISASEMVMRARDLVYHLNCFTCTTCNKMLTTGDHFGMKDSLVYCRLHFEALLQGEYPAH
FNHADVAAAAAAAAAAKSAGLGAAGANPLGLPYYNGVGTVQKGRPRKRKSPGPGADLAAY
NAALSCNENDAEHLDRDQPYPSSQKTKRMRTSFKHHQLRTMKSYFAINHNPDAKDLKQLA
QKTGLTKRVLQVWFQNARAKFRRNLLRQENTGVDKSTDAALQTGTPSGPASELSNASLSP
SSTPTTLTDLTSPTLPTVTSVLTSVPGNLEGHEPHSPSQTTLTNLF

Sequence length

406

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Variable neurodevelopmental disorder	Likely pathogenic	rs2540147394	RCV003314216

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
LHX2-related disorder	Likely benign; Benign	rs138022431, rs370825161, rs189601606, rs140229756, rs144291200, rs61734362	RCV003939036 RCV003933878 RCV003951673 RCV003924421 RCV003979163 RCV003978192

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anophthalmos	Associate	21203406
Arthritis Rheumatoid	Associate	23456299
Astrocytoma	Associate	26497896
Autism Spectrum Disorder	Associate	37057675
Breast Neoplasms	Associate	26510686
Carcinogenesis	Associate	31724536
Carcinoma Non Small Cell Lung	Associate	26189214
Colorectal Neoplasms	Associate	38092774
Esophageal Squamous Cell Carcinoma	Associate	36011368
Familial schizencephaly	Associate	20949537
Gastrointestinal Stromal Tumors	Associate	24133624
Glioblastoma	Associate	38563293
Glioma	Associate	32857719
Hypoxia	Inhibit	38563293
Intellectual Disability	Associate	37057675
Lymphoma Large B Cell Diffuse	Associate	34001679
Microcephaly	Associate	37057675
Nasopharyngeal Carcinoma	Associate	35300558, 35864158
Neoplasm Metastasis	Stimulate	35864158, 36011368
Neoplasms	Associate	21169070, 23864708, 26510686, 31724536, 36011368
Neoplasms Adipose Tissue	Associate	23966867
Osteosarcoma	Associate	31724536
Septo Optic Dysplasia	Associate	20949537
Stomach Neoplasms	Associate	31173287

LHX2 (LIM homeobox 2)