• Gene id: 339768

Gene Summary

• Gene Symbol: ESPNL   Gene   UCSC   Ensembl
• Gene name: espin like
• Alternate names: espin-like protein,
• Gene location: 2q37.3 (238100339: 238133286)     Exons: 11     NC_000002.12
• OMIM: 608893

Protein Summary

• Protein general information: Q6ZVH7  
  • Name: Espin like protein
  • Length: 1005  
  • Mass: 108132
• Sequence:

  MEKQRALVAAKDGDVATLERLLEAGALGPGITDALGAGLVHHATRAGHLDCVKFLVQRAQLPGNQRAHNGATPAH
  DAAATGSLAELCWLVREGGCGLQDQDASGVSPLHLAARFGHPVLVEWLLHEGHSATLETREGARPLHHAAVSGDL
  TCLKLLTAAHGSSVNRRTRSGASPLYLACQEGHLHLAQFLVKDCGADVHLRALDGMSALHAAAARGHYSLVVWLV
  TFTDIGLTARDNEGATALHFAARGGHTPILDRLLLMGTPILRDSWGGTPLHDAAENGQMECCQTLVSHHVDPSLR
  DEDGYTAADLAEYHGHRDCAQYLREVAQPVPLLMTPPPPPFPPPPLLATRRSLEDGRRGGPGPGNPSPMSLSPAW
  PGHPDQPLPREQMTSPAPPRIITSATADPEGTETALAGDTSDGLAALQLDGLPSGDIDGLVPTRDERGQPIPEWK
  RQVMVRKLQARLGAESSAEAQDNGGSSGPTEQAAWRYSQTHQAILGPFGELLTEDDLVYLEKQIADLQLRRRCQE
  YESELGRLAAELQALLPEPLVSITVNSHFLPRAPGLEVEEASIPAAEPAGSAEASEVAPGVQPLPFWCSHISRLV
  RSLSLLLKGVHGLVQGDEKPSTRPLQDTCREASASPPRSEAQRQIQEWGVSVRTLRGNFESASGPLCGFNPGPCE
  PGAQHRQCLSGCWPALPKPRSGLASGEPRPGDTEEASDSGISCEEVPSEAGAAAGPDLASLRKERIIMLFLSHWR
  RSAYTPALKTVACRTLGARHAGLRGQEAARSPGPPSPPSEGPRLGHLWQQRSTITHLLGNWKAIMAHVPARQLRR
  LSRQPRGALSPEQFLPHVDGAPVPYSSLSLDLFMLGYFQLLECDLPAEERKLRHLLCFEVFEHLGTHGWEAVRAF
  HKAVTDEVAAGRRAWTDGFEDIKARFFGSSQRPAWDTEPGRKSGLTLLGPLPHAAVPCSGPEPTAQRLGSRSQQG
  SFNGEDICGYINRSFAFWKEKEAEMFNFGE

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000339115
• Other Databases: GeneCards:  ESPNL  Malacards:  ESPNL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0032426	stereocilium tip	ISS	cellular component
GO:0051015	actin filament binding	ISS	molecular function
GO:0007605	sensory perception of sound	ISS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0032426	stereocilium tip	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0032420	stereocilium	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray