LHFPL6 (LHFPL tetraspan subfamily member 6)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 10186
Gene name LHFPL tetraspan subfamily member 6
Gene symbol LHFPL6
Synonyms (NCBI Gene)
LHFP
Chromosome 13
Chromosome location 13q13.3-q14.11
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. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mut
miRNA miRNA information provided by mirtarbase database.
29
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (29)
miRTarBase ID miRNA Experiments Reference
MIRT636469 hsa-miR-323a-3p HITS-CLIP 23313552
MIRT636467 hsa-miR-6867-5p HITS-CLIP 23313552
MIRT636468 hsa-miR-3613-5p HITS-CLIP 23313552
MIRT636466 hsa-let-7c-3p HITS-CLIP 23313552
MIRT636465 hsa-let-7a-2-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606710 6586 ENSG00000183722
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y693
Protein name LHFPL tetraspan subfamily member 6 protein (Lipoma HMGIC fusion partner)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10242 L_HMGIC_fpl 8 → 193 Lipoma HMGIC fusion partner-like protein Family
Tissue specificity TISSUE SPECIFICITY: Pancreas, kidney, skeletal muscle, liver, lung brain, heart, colon, small intestine, uterus, testis, prostate, thymus, spleen and placenta. {ECO:0000269|PubMed:10329012}.
Sequence
Sequence length 200
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
LHFPL6-related disorder Likely benign; Benign rs187660812, rs34616166 RCV003912147
RCV003978993
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Depressive Disorder Associate 28809398
Lipedema Associate 36227936
Lipoma Associate 36227936
Macular Degeneration Associate 28775256