LHFPL6 (LHFPL tetraspan subfamily member 6)

Gene

• 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

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
MIRT636463	hsa-let-7g-3p	HITS-CLIP	23313552
MIRT636464	hsa-miR-493-5p	HITS-CLIP	23313552
MIRT684101	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT684100	hsa-miR-147a	HITS-CLIP	23313552
MIRT636462	hsa-miR-4455	HITS-CLIP	23313552
MIRT636461	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT636469	hsa-miR-323a-3p	HITS-CLIP	23824327
MIRT636467	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT636468	hsa-miR-3613-5p	HITS-CLIP	23824327
MIRT636466	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT636465	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT636463	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT636464	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT636462	hsa-miR-4455	HITS-CLIP	23824327
MIRT636461	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT636469	hsa-miR-323a-3p	HITS-CLIP	23824327
MIRT636467	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT636468	hsa-miR-3613-5p	HITS-CLIP	23824327
MIRT636466	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT636465	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT636463	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT636464	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT636462	hsa-miR-4455	HITS-CLIP	23824327
MIRT636461	hsa-miR-574-5p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 606710
• HGNC: 6586
• e!Ensembl: ENSG00000183722

Protein

• UniProt ID: 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:

  MASSLTCTGVIWALLSFLCAATSCVGFFMPYWLWGSQLGKPVSFGTFRRCSYPVHDESRQ
  MMVMVEECGRYASFQGIPSAEWRICTIVTGLGCGLLLLVALTALMGCCVSDLISRTVGRV
  AGGIQFLGGLLIGAGCALYPLGWDSEEVRQTCGYTSGQFDLGKCEIGWAYYCTGAGATAA
  MLLCTWLACFSGKKQKHYPY

• Sequence length: 200

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LHFPL6-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Cancer, Familial	Breast Cancer	BEFREE	12494468		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10329012		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28809398		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	28809398	Associate	★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	28775256		★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	28775256		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	22538188		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	11890997		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	10329012, 11890997		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	36227936	Associate	★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple	Lipomatosis	BEFREE	10329012, 11890997		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28775256	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18381458		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28809398		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11890997		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	16752389		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	18369459		★☆☆☆☆ Found in Text Mining only