• Gene id: 10184

Gene Summary

• Gene Symbol: LHFPL2   Gene   UCSC   Ensembl
• Gene name: LHFPL tetraspan subfamily member 2
• Alternate names: LHFPL tetraspan subfamily member 2 protein, LHFP-like protein 2, lipoma HMGIC fusion partner-like 2 protein,
• Gene location: 5q14.1 (78770255: 78485223)     Exons: 14     NC_000005.10
• 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: 609718

Protein Summary

• Protein general information: Q6ZUX7  
  • Name: LHFPL tetraspan subfamily member 2 protein (Lipoma HMGIC fusion partner like 2 protein)
  • Length: 228  
  • Mass: 24486
  • Tissue specificity: Expressed in all tissues and cell lines examined except brain and peripheral blood leukocytes. {ECO
• Sequence:

  MCHVIVTCRSMLWTLLSIVVAFAELIAFMSADWLIGKARSRGGVEPAGPGGGSPEPYHPTLGIYARCIRNPGVQH
  FQRDTLCGPYAESFGEIASGFWQATAIFLAVGIFILCMVALVSVFTMCVQSIMKKSIFNVCGLLQGIAGLFLILG
  LILYPAGWGCQKAIDYCGHYASAYKPGDCSLGWAFYTAIGGTVLTFICAVFSAQAEIATSSDKVQEEIEEGKNLI
  CLL

• Structural information:
  • Interpro: IPR019372  
  • STRING: ENSP00000369702
• Other Databases: GeneCards:  LHFPL2  Malacards:  LHFPL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:1905516	positive regulation of fertilization	ISS	biological process
GO:0046545	development of primary female sexual characteristics	ISS	biological process
GO:0046546	development of primary male sexual characteristics	ISS	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0031092	platelet alpha granule membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046545	development of primary female sexual characteristics	IEA	biological process
GO:1905516	positive regulation of fertilization	IEA	biological process
GO:0046546	development of primary male sexual characteristics	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray