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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:609427 Ensembl IDEnsembl:ENSG00000197753 HGNC IDHGNC:HGNC:21253 PHARMGKB IDPA134943389 Map Location6p21.31 | |||||
GO terms in LHFPL5
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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 |
Gene expression in normal tissue: LHFPL5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in LHFPL5
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LHFPL5
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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