LHFPL5
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 this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| LHFPL tetraspan subfamily member 5 | MIM:609427 | Ensembl:ENSG00000197753 | HGNC:HGNC:21253 | PA134943389 | 6p21.31 |
GO terms in LHFPL5
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0016324 | apical plasma membrane |
| CC | IEA | GO:0032426 | stereocilium tip |
| BP | IEA | GO:0006811 | ion transport |
| BP | IEA | GO:0050910 | detection of mechanical stimulus involved in sensory perception of sound |
| BP | IEA | GO:0060088 | auditory receptor cell stereocilium organization |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: LHFPL5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in LHFPL5
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LHFPL5
CLASSFICATION
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