• Gene id: 375323

Gene Summary

• Gene Symbol: LHFPL4   Gene   UCSC   Ensembl
• Aliases: GARLH4
• Gene name: LHFPL tetraspan subfamily member 4
• Alternate names: LHFPL tetraspan subfamily member 4 protein, GABAA receptor regulatory Lhfpl4, LHFP-like protein 4, lipoma HMGIC fusion partner-like 4 protein,
• Gene location: 3p25.3 (9553821: 9498360)     Exons: 19     NC_000003.12
• Gene summary(Entrez): 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-l
• OMIM: 610240

Protein Summary

• Protein general information: Q7Z7J7  
  • Name: LHFPL tetraspan subfamily member 4 protein (GABAA receptor regulatory Lhfpl4) (Lipoma HMGIC fusion partner like 4 protein)
  • Length: 247  
  • Mass: 27007
• Sequence:

  MLPSQEASKLYHEHYMRNSRAIGVLWAIFTICFAIINVVVFIQPYWVGDSVSTPKPGYFGLFHYCVGSGLAGREL
  TCRGSFTDFSTIPSSAFKAAAFFVLLSMVLILGCITCFSLFFFCNTATVYKICAWMQLLAALCLVLGCMIFPDGW
  DAETIRDMCGAKTGKYSLGDCSVRWAYILAIIGILNALILSFLAFVLGNRQTDLLQEELKPENKDFVGSTVSSVL
  RPGGDVSGWGVLPCPVAHSQGP

• Structural information:
  • Interpro: IPR019372  
  • STRING: ENSP00000287585
• Other Databases: GeneCards:  LHFPL4  Malacards:  LHFPL4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050811	GABA receptor binding	IBA	molecular function
GO:0060077	inhibitory synapse	IBA	cellular component
GO:0097112	gamma-aminobutyric acid receptor clustering	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0007605	sensory perception of sound	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0060077	inhibitory synapse	ISS	cellular component
GO:0097112	gamma-aminobutyric acid receptor clustering	ISS	biological process
GO:1905702	regulation of inhibitory synapse assembly	ISS	biological process
GO:0045211	postsynaptic membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0097112	gamma-aminobutyric acid receptor clustering	IEA	biological process
GO:0060077	inhibitory synapse	IEA	cellular component
GO:0050811	GABA receptor binding	IEA	molecular function
GO:0060077	inhibitory synapse	IEA	cellular component
GO:0050811	GABA receptor binding	IEA	molecular function
GO:1905702	regulation of inhibitory synapse assembly	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq