Gene Gene information from NCBI Gene database.
Entrez ID 375612
Gene name LHFPL tetraspan subfamily member 3
Gene symbol LHFPL3
Synonyms (NCBI Gene)
LHFPL4
Chromosome 7
Chromosome location 7q22.2-q22.3
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.
305
miRTarBase ID miRNA Experiments Reference
MIRT540674 hsa-miR-8485 HITS-CLIP 23824327
MIRT540673 hsa-miR-574-3p HITS-CLIP 23824327
MIRT540671 hsa-miR-342-3p HITS-CLIP 23824327
MIRT540674 hsa-miR-8485 HITS-CLIP 23824327
MIRT540673 hsa-miR-574-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0007605 Process Sensory perception of sound 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
609719 6589 ENSG00000187416
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86UP9
Protein name LHFPL tetraspan subfamily member 3 protein (Lipoma HMGIC fusion partner-like 3 protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10242 L_HMGIC_fpl 36 213 Lipoma HMGIC fusion partner-like protein Family
Sequence
Sequence length 236
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
CHRONIC LYMPHOCYTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA 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
Arthritis, Gouty Gouty arthritis GWASCAT_DG 22179738
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder GWASCAT_DG 26806518
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35435361 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 18381458
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 18381458
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33431054 Associate
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease GWASDB_DG 21971053
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 24358143
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 24358143 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 24358143
★☆☆☆☆
Found in Text Mining only