LHFPL2

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. [provided by RefSeq, Jul 2008]

Description

LHFPL tetraspan subfamily member 2

Tissue specificity

Low tissue specificity

Subcell location

Nuclear bodies, Vesicles, Plasma membrane

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (78485215 - 78770021)

Ensembl ID

ENSG00000145685  (ver. 103.38)

Orthologs

Mouse Lhfpl2: ENSMUSG00000045312

UniProt

Q6ZUX7

neXtProt

NX_Q6ZUX7

Human splice variants
Mouse splice variants

Protein structure