LHFPL2

Lipoma HMGIC fusion partner-like 2 protein is a protein that in humans is encoded by the LHFPL2 gene.[5][6]

LHFPL2
Identifiers
AliasesLHFPL2, lipoma HMGIC fusion partner-like 2, LHFPL tetraspan subfamily member 2
External IDsOMIM: 609718 MGI: 2145236 HomoloGene: 4222 GeneCards: LHFPL2
Orthologs
SpeciesHumanMouse
Entrez

10184

218454

Ensembl

ENSG00000145685

ENSMUSG00000045312

UniProt

Q6ZUX7

Q8BGA2

RefSeq (mRNA)

NM_005779

NM_172589

RefSeq (protein)

NP_005770

NP_766177

Location (UCSC)Chr 5: 78.49 – 78.77 MbChr 13: 94.19 – 94.33 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000145685 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000045312 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Petit MM, Schoenmakers EF, Huysmans C, Geurts JM, Mandahl N, Van de Ven WJ (Aug 1999). "LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes". Genomics. 57 (3): 438–41. doi:10.1006/geno.1999.5778. PMID 10329012.
  6. "Entrez Gene: LHFPL2 lipoma HMGIC fusion partner-like 2".

Further reading


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