Gene Gene information from NCBI Gene database.
Entrez ID 10184
Gene name LHFPL tetraspan subfamily member 2
Gene symbol LHFPL2
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q14.1
Summary This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-l
miRNA miRNA information provided by mirtarbase database.
626
miRTarBase ID miRNA Experiments Reference
MIRT019846 hsa-miR-375 Microarray 20215506
MIRT024177 hsa-miR-221-3p Sequencing 20371350
MIRT028068 hsa-miR-93-5p Sequencing 20371350
MIRT028386 hsa-miR-32-5p Sequencing 20371350
MIRT052375 hsa-let-7a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane TAS
GO:0007338 Process Single fertilization IEA
GO:0016020 Component Membrane IBA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609718 6588 ENSG00000145685
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZUX7
Protein name LHFPL tetraspan subfamily member 2 protein (Lipoma HMGIC fusion partner-like 2 protein)
Protein function Plays a role in female and male fertility. Involved in distal reproductive tract development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10242 L_HMGIC_fpl 9 204 Lipoma HMGIC fusion partner-like protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues and cell lines examined except brain and peripheral blood leukocytes. {ECO:0000269|PubMed:9039502}.
Sequence
Sequence length 228
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STROKE GWAS catalog
★★☆☆☆
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
Brain Neoplasms Brain Neoplasms BEFREE 27402877
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37589508 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Coronary Disease Coronary artery disease Pubtator 28408707 Associate
★☆☆☆☆
Found in Text Mining only
IGA Glomerulonephritis Glomerulonephritis CTD_human_DG 25133636
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Parkinson Disease Parkinson disease BEFREE 27402877
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Parkinson Disease Parkinson disease GWASCAT_DG 27402877
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Parkinson Disease Parkinson disease Pubtator 27402877 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations