Gene Gene information from NCBI Gene database.
Entrez ID 10660
Gene name Ladybird homeobox 1
Gene symbol LBX1
Synonyms (NCBI Gene)
CCHS3HPX-6HPX6LBX1Hhomeobox
Chromosome 10
Chromosome location 10q24.32
Summary This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal id
miRNA miRNA information provided by mirtarbase database.
54
miRTarBase ID miRNA Experiments Reference
MIRT488375 hsa-miR-4695-5p PAR-CLIP 20371350
MIRT488372 hsa-miR-6087 PAR-CLIP 20371350
MIRT488369 hsa-miR-765 PAR-CLIP 20371350
MIRT488368 hsa-miR-7106-5p PAR-CLIP 20371350
MIRT569361 hsa-miR-6781-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
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:0001947 Process Heart looping IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604255 16960 ENSG00000138136
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52954
Protein name Transcription factor LBX1 (Ladybird homeobox protein homolog 1)
Protein function Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord. {ECO:000
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 126 182 Homeodomain Domain
Sequence
MTSKEDGKAAPGEERRRSPLDHLPPPANSNKPLTPFSIEDILNKPSVRRSYSLCGAAHLL
AAADKHAQGGLPLAGRALLSQTSPLCALEELASKTFKGLEVSVLQAAEGRDGMTIFGQRQ
TPKKRRKSRTAFTNHQIYELEKRFLYQKYLSPADRDQIAQQLGLTNAQVITWFQNRRAKL
KR
DLEEMKADVESAKKLGPSGQMDIVALAELEQNSEATAGGGGGCGRAKSRPGSPVLPPG
APKAPGAGALQLSPASPLTDQPASSQDCSEDEEDEEIDVDD
Sequence length 281
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3 ClinVar, Disgenet, HPO
ClinVar, Disgenet, HPO
ClinVar, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 7698766
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 23096252, 23308168, 24721834, 24878781, 25675428, 26394188, 27450593, 28187071, 28604496, 29535018, 31202838, 31277174, 31365516
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 21302352
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder PSYGENET_DG 12963668
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 19651985
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 19651985
★☆☆☆☆
Found in Text Mining only
Caudal Regression Syndrome Caudal regression sequence BEFREE 16498628
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia BEFREE 12461755
★☆☆☆☆
Found in Text Mining only
Leukemia, T-Cell T-cell leukemia BEFREE 7698766
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 19651985
★☆☆☆☆
Found in Text Mining only