• Gene id: 222223

Gene Summary

• Gene Symbol: ELAPOR2   Gene   UCSC   Ensembl
• Aliases: EIG121L, KIAA1324L
• Gene name: endosome-lysosome associated apoptosis and autophagy regulator family member 2
• Alternate names: UPF0577 protein KIAA1324-like, EIG121-like, KIAA1324 like, estrogen-induced gene 121-like protein,
• Gene location: 7q21.12 (77798772: 77957503)     Exons: 22     NC_000007.14
• OMIM: 614048

Protein Summary

• Protein general information: A8MWY0  
  • Name: UPF0577 protein KIAA1324 like (Estrogen induced gene 121 like protein) (hEIG121L)
  • Length: 1029  
  • Mass: 113842
• Sequence:

  MLFRARGPVRGRGWGRPAEAPRRGRSPPWSPAWICCWALAGCQAAWAGDLPSSSSRPLPPCQEKDYHFEYTECDS
  SGSRWRVAIPNSAVDCSGLPDPVRGKECTFSCASGEYLEMKNQVCSKCGEGTYSLGSGIKFDEWDELPAGFSNIA
  TFMDTVVGPSDSRPDGCNNSSWIPRGNYIESNRDDCTVSLIYAVHLKKSGYVFFEYQYVDNNIFFEFFIQNDQCQ
  EMDTTTDKWVKLTDNGEWGSHSVMLKSGTNILYWRTTGILMGSKAVKPVLVKNITIEGVAYTSECFPCKPGTFSN
  KPGSFNCQVCPRNTYSEKGAKECIRCKDDSQFSEEGSSECTERPPCTTKDYFQIHTPCDEEGKTQIMYKWIEPKI
  CREDLTDAIRLPPSGEKKDCPPCNPGFYNNGSSSCHPCPPGTFSDGTKECRPCPAGTEPALGFEYKWWNVLPGNM
  KTSCFNVGNSKCDGMNGWEVAGDHIQSGAGGSDNDYLILNLHIPGFKPPTSMTGATGSELGRITFVFETLCSADC
  VLYFMVDINRKSTNVVESWGGTKEKQAYTHIIFKNATFTFTWAFQRTNQGQDNRRFINDMVKIYSITATNAVDGV
  ASSCRACALGSEQSGSSCVPCPPGHYIEKETNQCKECPPDTYLSIHQVYGKEACIPCGPGSKNNQDHSVCYSDCF
  FYHEKENQSLHYDFSNLSSVGSLMNGPSFTSKGTKYFHFFNISLCGHEGKKMALCTNNITDFTVKEIVAGSDDYT
  NLVGAFVCQSTIIPSESKGFRAALSSQSIILADTFIGVTVETTLKNINIKEDMFPVPTSQIPDVHFFYKSSTATT
  SCINGRSTAVKMRCNPTKSGAGVISVPSKCPAGTCDGCTFYFLWESAEACPLCTEHDFHEIEGACKRGFQETLYV
  WNEPKWCIKGISLPEKKLATCETVDFWLKVGAGVGAFTAVLLVALTCYFWKKNQKLEYKYSKLVMTTNSKECELP
  AADSCAIMEGEDNEEEVVYSNKQSLLGKLKSLATKEKEDHFESVQLKTSRSPNI

• Structural information:
  • Interpro: IPR039181  IPR009030  IPR011641  
  • STRING: ENSP00000413445
• Other Databases: GeneCards:  ELAPOR2  Malacards:  ELAPOR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051961	negative regulation of nervous system development	ISS	biological process
GO:0070700	BMP receptor binding	ISS	molecular function
GO:0030513	positive regulation of BMP signaling pathway	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0045684	positive regulation of epidermis development	ISS	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
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)